Variant report

Variant	nsv948932
Chromosome Location	chr17:43651040-44176717
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:9867)
CpG islands
(count:9349)
Chromatin interactive
region (count:399)
LncRNA
region (count:129)
Mature miRNA
region (count: 0)
miRNA target
sites (count:4)

(count:9867 , 50 per page) page: 1 2 3 4 5 6 7 ... 198

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr17:44000863-44001547	HepG2	liver:	n/a	n/a
2	ARID3A	chr17:44156000-44156510	K562	blood:	n/a	n/a
3	ARID3A	chr17:44079921-44080192	HepG2	liver:	n/a	n/a
4	ARID3A	chr17:44121656-44122045	HepG2	liver:	n/a	n/a
5	ARID3A	chr17:44138881-44139073	K562	blood:	n/a	n/a
6	ARID3A	chr17:43660962-43661976	K562	blood:	n/a	n/a
7	ARID3A	chr17:43657095-43658236	K562	blood:	n/a	chr17:43657271-43657287 chr17:43658107-43658123
8	ARID3A	chr17:43889519-43889725	K562	blood:	n/a	n/a
9	ARID3A	chr17:43980526-43980677	HepG2	liver:	n/a	n/a
10	ARID3A	chr17:44068440-44068500	K562	blood:	n/a	n/a
11	ARID3A	chr17:44026279-44026637	K562	blood:	n/a	n/a
12	ARID3A	chr17:43971626-43971843	HepG2	liver:	n/a	n/a
13	ARID3A	chr17:44081221-44082115	HepG2	liver:	n/a	chr17:44081703-44081719
14	ARID3A	chr17:43935417-43935673	HepG2	liver:	n/a	n/a
15	ARID3A	chr17:43947549-43947645	K562	blood:	n/a	n/a
16	ARID3A	chr17:43662509-43662655	HepG2	liver:	n/a	n/a
17	ARID3A	chr17:43889560-43889800	HepG2	liver:	n/a	n/a
18	ARID3A	chr17:44054551-44054902	K562	blood:	n/a	n/a
19	ARID3A	chr17:44121720-44122049	K562	blood:	n/a	n/a
20	ARID3A	chr17:43954222-43954286	HepG2	liver:	n/a	n/a
21	ARID3A	chr17:43931758-43931805	K562	blood:	n/a	n/a
22	ARID3A	chr17:43930148-43930468	K562	blood:	n/a	n/a
23	ARID3A	chr17:43980199-43980608	K562	blood:	n/a	n/a
24	ARID3A	chr17:44026383-44026693	HepG2	liver:	n/a	n/a
25	ARID3A	chr17:44091040-44091326	HepG2	liver:	n/a	n/a
26	ATF1	chr17:43985912-43986247	K562	blood:	n/a	n/a
27	ATF1	chr17:43704647-43704718	K562	blood:	n/a	n/a
28	ATF1	chr17:43866141-43866180	K562	blood:	n/a	n/a
29	ATF1	chr17:44123170-44123274	K562	blood:	n/a	n/a
30	ATF1	chr17:43661398-43662051	K562	blood:	n/a	n/a
31	ATF1	chr17:44029323-44029629	K562	blood:	n/a	n/a
32	ATF1	chr17:43985442-43985638	K562	blood:	n/a	n/a
33	ATF1	chr17:43651525-43652025	K562	blood:	n/a	n/a
34	ATF1	chr17:43656866-43657763	K562	blood:	n/a	n/a
35	ATF1	chr17:43662544-43662699	K562	blood:	n/a	n/a
36	ATF1	chr17:44054395-44054964	K562	blood:	n/a	n/a
37	ATF1	chr17:44155921-44156419	K562	blood:	n/a	n/a
38	ATF1	chr17:43782928-43783062	K562	blood:	n/a	n/a
39	ATF1	chr17:43763629-43763990	K562	blood:	n/a	n/a
40	ATF1	chr17:43765896-43766163	K562	blood:	n/a	n/a
41	ATF2	chr17:43660922-43662038	H1-hESC	embryonic stem cell:	n/a	n/a
42	ATF2	chr17:43661100-43662181	GM12878	blood:	n/a	n/a
43	ATF2	chr17:43662306-43662899	GM12878	blood:	n/a	n/a
44	ATF2	chr17:43661302-43662124	H1-hESC	embryonic stem cell:	n/a	n/a
45	ATF2	chr17:43660892-43662260	GM12878	blood:	n/a	n/a
46	ATF2	chr17:43971458-43971860	H1-hESC	embryonic stem cell:	n/a	n/a
47	ATF3	chr17:43662322-43662817	GM12878	blood:	n/a	chr17:43662556-43662565 chr17:43662545-43662565
48	ATF3	chr17:43782647-43783165	A549	lung:	n/a	n/a
49	ATF3	chr17:43662437-43662787	H1-hESC	embryonic stem cell:	n/a	chr17:43662556-43662565 chr17:43662545-43662565
50	ATF3	chr17:43971597-43972321	HepG2	liver:	n/a	chr17:43971822-43971831 chr17:43971772-43971781 chr17:43971663-43971676

(count:9349 , 50 per page) page: 1 2 3 4 5 6 7 ... 187

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr17:43922244-43922294	ECC-1	luminal epithelium:	n/a
2	chr17:43921863-43921913	HepG2	liver:	n/a
3	chr17:43860691-43860741	HRE	kidney:	n/a
4	chr17:43978251-43978301	AG10803	skin:	n/a
5	chr17:43973146-43973196	CMK	blood:	n/a
6	chr17:43983362-43983412	HL-60	blood:	n/a
7	chr17:43974869-43974919	MCF10A-Er-Src	breast:	n/a
8	chr17:44105544-44105594	PANC-1	pancreas:	n/a
9	chr17:43974919-43974969	GM12878	blood:	n/a
10	chr17:43663579-43663629	H1-hESC	embryonic stem cell:	embryo
11	chr17:43922244-43922294	IMR90	lung:	fetal
12	chr17:44058016-44058066	GM06990	blood:	n/a
13	chr17:43922800-43922850	HEK293	kidney:	embryo
14	chr17:43922244-43922294	HAEpiC	amniotic membrane:	n/a
15	chr17:44060252-44060302	Hela-S3	cervix:	n/a
16	chr17:43863303-43863353	NT2-D1	testis:	n/a
17	chr17:43922244-43922294	ECC-1	luminal epithelium:	n/a
18	chr17:43921863-43921913	HepG2	liver:	n/a
19	chr17:43860691-43860741	HRE	kidney:	n/a
20	chr17:43978251-43978301	AG10803	skin:	n/a
21	chr17:43973146-43973196	CMK	blood:	n/a
22	chr17:43983362-43983412	HL-60	blood:	n/a
23	chr17:43974869-43974919	MCF10A-Er-Src	breast:	n/a
24	chr17:44105544-44105594	PANC-1	pancreas:	n/a
25	chr17:43974919-43974969	GM12878	blood:	n/a
26	chr17:43663579-43663629	H1-hESC	embryonic stem cell:	embryo
27	chr17:43922244-43922294	IMR90	lung:	fetal
28	chr17:44058016-44058066	GM06990	blood:	n/a
29	chr17:43922800-43922850	HEK293	kidney:	embryo
30	chr17:43922244-43922294	HAEpiC	amniotic membrane:	n/a
31	chr17:44060252-44060302	Hela-S3	cervix:	n/a
32	chr17:43863303-43863353	NT2-D1	testis:	n/a
33	chr17:43656297-43656347	T-47D	breast:	n/a
34	chr17:43921565-43921615	NB4	blood:	n/a
35	chr17:44060353-44060403	H1-hESC	embryonic stem cell:	embryo
36	chr17:44068857-44068907	RPTEC	kidney:	n/a
37	chr17:43862247-43862297	ovcar-3	ovarian:	n/a
38	chr17:44026652-44026702	GM12892	blood:	n/a
39	chr17:43862910-43862960	BE2_C	brain:	n/a
40	chr17:43922875-43922925	BE2_C	brain:	n/a
41	chr17:43910226-43910276	NH-A	brain:	n/a
42	chr17:43971461-43971511	BJ	skin:	n/a
43	chr17:43942128-43942178	AG09309	skin:	n/a
44	chr17:44075684-44075734	ProgFib	skin:	n/a
45	chr17:43700306-43700356	HRPEpiC	eye:	n/a
46	chr17:43862247-43862297	SKMC	muscle:	n/a
47	chr17:43861668-43861718	SK-N-SH	brain:	n/a
48	chr17:44159144-44159194	NT2-D1	testis:	n/a
49	chr17:44105544-44105594	Hela-S3	cervix:	n/a
50	chr17:43662625-43662675	GM12878	blood:	n/a

(count:399 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Distal block	Cell Line	Cell type
1	chr17:43750122..43752781-chr17:43755256..43756766,2	K562	blood:
2	chr17:43743554..43744059-chr17:43905812..43906447,2	MCF-7	breast:
3	chr17:44114839..44118796-chr17:44119688..44124458,6	K562	blood:
4	chr17:43915875..43918874-chr17:43921810..43923680,2	K562	blood:
5	chr17:44111597..44113343-chr17:44122514..44124347,2	K562	blood:
6	chr17:44079536..44080411-chr17:44290329..44290936,4	MCF-7	breast:
7	chr17:43796711..43797518-chr17:43909265..43910123,2	K562	blood:
8	chr17:43661828..43662345-chr7:27779149..27779760,2	Hela-S3	cervix:
9	chr17:44079045..44080598-chr17:44082403..44085358,2	K562	blood:
10	chr17:43718895..43720470-chr17:43908930..43911582,2	MCF-7	breast:
11	chr17:44105011..44106935-chr17:44109139..44111271,3	MCF-7	breast:
12	chr17:43837523..43839986-chr17:43875478..43878111,2	K562	blood:
13	chr17:44002357..44005026-chr17:44007240..44009723,3	K562	blood:
14	chr17:43976754..43978771-chr17:43981675..43983934,2	K562	blood:
15	chr17:43789857..43791520-chr17:43798686..43801656,2	MCF-7	breast:
16	chr17:44148582..44150491-chr17:44161038..44163704,2	K562	blood:
17	chr17:43660094..43663642-chr17:44269227..44273306,6	K562	blood:
18	chr17:43807196..43808771-chr17:43810138..43811945,2	K562	blood:
19	chr17:43887903..43889656-chr17:43897713..43900085,2	K562	blood:
20	chr17:43860147..43861189-chr17:43909188..43910157,4	K562	blood:
21	chr17:44078798..44081335-chr17:44093106..44096327,3	MCF-7	breast:
22	chr17:44012029..44013801-chr17:44018731..44021088,2	K562	blood:
23	chr17:43801456..43803040-chr17:43803716..43806202,2	K562	blood:
24	chr17:43912642..43915056-chr17:43921730..43923482,2	K562	blood:
25	chr17:44120338..44122699-chr17:44269206..44272510,5	K562	blood:
26	chr17:44148967..44150504-chr17:44153179..44155719,2	MCF-7	breast:
27	chr17:43860147..43861189-chr17:43909188..43910157,4	K562	blood:
28	chr17:43887903..43889656-chr17:43897713..43900085,2	K562	blood:
29	chr17:44019634..44022226-chr17:44056520..44058701,2	K562	blood:
30	chr17:43982018..43983744-chr17:43991558..43993086,2	K562	blood:
31	chr17:43723720..43725759-chr17:43727192..43728840,2	K562	blood:
32	chr17:43799220..43800065-chr17:43905822..43906413,2	MCF-7	breast:
33	chr17:44119703..44123792-chr17:44269812..44272755,3	MCF-7	breast:
34	chr17:44029869..44033509-chr17:44052959..44056477,3	K562	blood:
35	chr17:44147812..44149835-chr17:44158018..44159990,2	K562	blood:
36	chr17:43713604..43715423-chr17:43719097..43720603,2	K562	blood:
37	chr17:43971391..43972977-chr17:44025286..44028221,2	MCF-7	breast:
38	chr17:44083390..44085801-chr17:44094694..44096303,2	K562	blood:
39	chr17:44037993..44040534-chr17:44053155..44056124,2	K562	blood:
40	chr17:44020085..44022960-chr17:44025930..44028305,2	K562	blood:
41	chr17:43930225..43931201-chr17:43971666..43972273,2	K562	blood:
42	chr17:43775476..43777556-chr17:43778862..43781028,2	K562	blood:
43	chr17:43994279..43996056-chr17:44002235..44005084,3	K562	blood:
44	chr17:44083759..44086659-chr17:44089567..44091338,2	K562	blood:
45	chr17:44049867..44052687-chr17:44056733..44058786,2	K562	blood:
46	chr17:44164814..44167113-chr17:44176139..44178358,2	K562	blood:
47	chr17:43725711..43728020-chr17:43781192..43782870,2	MCF-7	breast:
48	chr17:44090186..44092925-chr17:44118270..44121097,2	K562	blood:
49	chr17:43982117..43983782-chr17:43984058..43985573,2	MCF-7	breast:
50	chr17:43976754..43978771-chr17:43981675..43983934,2	K562	blood:

(count:129 , 50 per page) page: 1 2 3

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-STH-3	chr17:44036288-44036407	ucscGeneNc_uc002inu_2
2	lnc-C17orf69-2	chr17:43723267-43723557	NONHSAT054157
3	lnc-C17orf69-3	chr17:43728735-43729225	NONHSAT054175
4	lnc-MAPT-2	chr17:44166854-44167017	l_1458_chr17:44166853-44175884_prostate
5	lnc-C17orf69-2	chr17:43699274-43699407	NONHSAT054160
6	lnc-KIAA1267-1	chr17:43988101-43988145	ENSG00000262881.1
7	lnc-KIAA1267-7	chr17:44001725-44002817	NONHSAT054189
8	lnc-C17orf69-2	chr17:43707270-43707524	NONHSAT054163
9	lnc-KIAA1267-7	chr17:43990460-43991849	NONHSAT054187
10	lnc-C17orf69-2	chr17:43713649-43713710	NONHSAT054163
11	lnc-C17orf69-2	chr17:43717755-43717821	NONHSAT054171
12	lnc-C17orf69-2	chr17:43723267-43723596	NONHSAT054168
13	lnc-C17orf69-2	chr17:43713649-43715329	NONHSAT054160
14	lnc-CRHR1-1	chr17:43669945-43671117	NONHSAT054155
15	lnc-ARL17B-2	chr17:44115389-44116052	NONHSAT054201
16	lnc-AC091132.2-10	chr17:43699326-43699407	NONHSAT054165
17	lnc-C17orf69-2	chr17:43716341-43716886	NONHSAT054170
18	lnc-C17orf69-2	chr17:43697706-43697738	NONHSAT054157
19	lnc-C17orf69-1	chr17:43717670-43718032	ENSG00000167159.5
20	lnc-KIAA1267-3	chr17:43922005-43922143	NONHSAT054181
21	lnc-C17orf69-1	chr17:43716341-43716886	ENSG00000167159.5
22	lnc-MAPT-2	chr17:44175485-44175884	l_1458_chr17:44166853-44175884_prostate
23	lnc-STH-4	chr17:44032808-44032906	refGeneNc_3870_NR_033202
24	lnc-C17orf69-2	chr17:43697708-43697738	NONHSAT054158
25	lnc-KIAA1267-7	chr17:44012816-44013403	NONHSAT054186
26	lnc-C17orf69-2	chr17:43713649-43715370	NONHSAT054162
27	lnc-KIAA1267-7	chr17:43990460-43991849	NONHSAT054186
28	lnc-C17orf69-2	chr17:43717755-43719671	NONHSAT054170
29	lnc-C17orf69-2	chr17:43717755-43719673	NR_026905
30	lnc-KIAA1267-3	chr17:43972846-43972966	ENSG00000264589.1
31	lnc-C17orf69-2	chr17:43707270-43707524	NONHSAT054157
32	lnc-C17orf69-2	chr17:43714253-43715052	NONHSAT054167
33	lnc-C17orf69-2	chr17:43723267-43723551	NONHSAT054162
34	lnc-C17orf69-2	chr17:43716341-43716886	NONHSAT054171
35	lnc-KIAA1267-7	chr17:43999025-44000170	NONHSAT054188
36	lnc-AC091132.2-8	chr17:43665659-43665981	NONHSAT054154
37	lnc-C17orf69-2	chr17:43716759-43717185	NONHSAT054167
38	lnc-KIAA1267-3	chr17:43920722-43921527	NONHSAT054180
39	lnc-AC091132.2-1	chr17:43809068-43809310	NONHSAT054176
40	lnc-KIAA1267-4	chr17:44065868-44066131	NONHSAT054192
41	lnc-C17orf69-2	chr17:43893829-43893909	ENSG00000263715.1
42	lnc-C17orf69-2	chr17:43707270-43707524	NONHSAT054160
43	lnc-AC091132.2-10	chr17:43717896-43718042	NONHSAT054165
44	lnc-KIAA1267-7	chr17:44001081-44001258	NONHSAT054188
45	lnc-AC091132.2-8	chr17:43664046-43664266	NONHSAT054154
46	lnc-STH-4	chr17:44034436-44034702	refGeneNc_3870_NR_033202
47	lnc-C17orf69-3	chr17:43726626-43728206	NONHSAT054175
48	lnc-STH-3	chr17:44038493-44038771	ucscGeneNc_uc002inu_2
49	lnc-KIAA1267-4	chr17:44071447-44071471	NONHSAT054196
50	lnc-C17orf69-1	chr17:43717755-43719666	ENSG00000167159.5

No data

(count:4 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location
1	KIAA1267	hsa-miR-421	chr17:44108557-44108579
2	KIAA1267	hsa-miR-148a-3p	chr17:44108561-44108582
3	MAPT	hsa-miR-34c-5p	chr17:44102709-44102730
4	KIAA1267	hsa-miR-130b-3p	chr17:44108562-44108586

Variant related genes	Relation type
CRHR1-IT1	TF binding region
ENSG00000262881	TF binding region
DND1P1	TF binding region
MAPT	TF binding region
ENSG00000265964	TF binding region
ENSG00000263503	TF binding region
SPPL2C	TF binding region
CRHR1	TF binding region
RPS26P8	TF binding region
ENSG00000263715	TF binding region
STH	TF binding region
ENSG00000265547	TF binding region
KANSL1	TF binding region
ENSG00000262372	TF binding region
MAPT-AS1	TF binding region
CRHR1-IT1	CpG island
ENSG00000262881	CpG island
DND1P1	CpG island
MAPT	CpG island
ENSG00000265964	CpG island
ENSG00000263503	CpG island
SPPL2C	CpG island
CRHR1	CpG island
RPS26P8	CpG island
ENSG00000263715	CpG island
STH	CpG island
ENSG00000265547	CpG island
KANSL1	CpG island
ENSG00000262372	CpG island
MAPT-AS1	CpG island
ENSG00000152558	chromatin interactions
ENSG00000214401	chromatin interactions
ENSG00000262372	chromatin interactions
ENSG00000106052	chromatin interactions
ENSG00000186868	chromatin interactions
ENSG00000120088	chromatin interactions
ENSG00000185294	chromatin interactions
ENSG00000272523	chromatin interactions
ENSG00000261575	chromatin interactions
ENSG00000256762	chromatin interactions
ENSG00000133794	chromatin interactions
ENSG00000264070	chromatin interactions
ENSG00000264589	chromatin interactions
ENSG00000176809	chromatin interactions
ENSG00000265964	chromatin interactions
ENSG00000255337	chromatin interactions
ENSG00000204650	chromatin interactions
ENSG00000159314	chromatin interactions
ENSG00000262881	chromatin interactions
ENSG00000169375	chromatin interactions
ENSG00000120071	chromatin interactions
ENSG00000265547	chromatin interactions
ENSG00000186834	chromatin interactions

Extended variants
information (count: 19525 )
Associated
traits (count: 124 )

Variant overlapped rSNPs/rCNVs (count:19525 , 50 per page) page: 1 2 3 4 5 6 7 ... 391

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2696639	chr17:43651040-43651041	Enhancers ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs536316966	chr17:43651119-43651120	Enhancers ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs554970536	chr17:43651232-43651233	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs2696640	chr17:43651233-43651234	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
5	rs543711613	chr17:43651239-43651240	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs558883505	chr17:43651248-43651249	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs577155447	chr17:43651257-43651258	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs541204562	chr17:43651298-43651299	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs559524093	chr17:43651299-43651300	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs141764580	chr17:43651355-43651356	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs541530055	chr17:43651367-43651368	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs563296089	chr17:43651377-43651378	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs544850609	chr17:43651387-43651388	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs2693363	chr17:43651422-43651423	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
15	rs550100456	chr17:43651452-43651453	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs571588666	chr17:43651503-43651504	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs2693364	chr17:43651511-43651512	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs371745216	chr17:43651522-43651523	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs547602555	chr17:43651548-43651549	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs2696641	chr17:43651550-43651551	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
21	rs2696642	chr17:43651556-43651557	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
22	rs554726524	chr17:43651611-43651612	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
23	rs570074459	chr17:43651632-43651633	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
24	rs139770139	chr17:43651634-43651635	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
25	rs369872900	chr17:43651654-43651655	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
26	rs2696643	chr17:43651680-43651681	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
27	rs577193365	chr17:43651715-43651716	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
28	rs543881756	chr17:43651737-43651738	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
29	rs2696644	chr17:43651767-43651768	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
30	rs2696645	chr17:43651770-43651771	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
31	rs568562218	chr17:43651815-43651816	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs535544472	chr17:43651836-43651837	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs2696646	chr17:43651892-43651893	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
34	rs563226039	chr17:43651903-43651904	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs548565913	chr17:43651906-43651907	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs377444447	chr17:43651907-43651908	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs2696647	chr17:43651920-43651921	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
38	rs575224716	chr17:43651977-43651978	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs112946858	chr17:43652059-43652060	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs8082014	chr17:43652065-43652066	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
41	rs532691852	chr17:43652069-43652070	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs372970113	chr17:43652094-43652095	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs547638963	chr17:43652113-43652114	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs138665233	chr17:43652120-43652121	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs8082042	chr17:43652124-43652125	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
46	rs8082044	chr17:43652131-43652132	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
47	rs142798545	chr17:43652132-43652133	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs8082148	chr17:43652142-43652143	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
49	rs8068259	chr17:43652169-43652170	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
50	rs548710954	chr17:43652230-43652231	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:124)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Ovarian cancer	22174824	CNVD
Melanoma	18172304	CNVD
Moyamoya disease	22323933	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ovarian cancer	21781307	CNVD
Colorectal cancer	21645411	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell lymphomas	19863542	CNVD
Cancer	16751803	CNVD
Chordoma	21602918	CNVD
Neurofibromatosis	20686819	CNVD
Peripheral nerve sheath tumors	20686819	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Neuroblastoma	18923524	CNVD
Neuroblastoma	17897457	CNVD
Neuroblastoma	17327916	CNVD
Breast cancer	21264507	CNVD
Endometrial cancer	22040021	CNVD
Neuroblastoma	21484798	CNVD
Breast cancer	22028636	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute myeloid leukemia	20724749	CNVD
Breast cancer	21858162	CNVD
lymphocytic leukemia	21291569	CNVD
Gastric cancer	17167181	CNVD
Breast cancer	19287154	CNVD
Leukemia	20874852	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Neuroblastoma	18664255	CNVD
Neuroblastoma	17533364	CNVD
Human rectal carcinomas	16397240	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Breast cancer	17457667	CNVD
Breast cancer	16951389	CNVD
Basal cell lymphoma	17053054	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22048815	CNVD
Breast cancer	17603634	CNVD
Follicular lymphoma	20505157	CNVD
Non-small cell lung cancer	20864512	CNVD
Cancer	21183584	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	20953835	CNVD
Thyroid cancer	19087340	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
TAR Syndrome	17847015	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	17850661	CNVD
Breast cancer	19261255	CNVD
Lung cancer	16773561	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Basal-like breast cancer	18066063	CNVD
Breast cancer	20031965	CNVD
Colorectal cancer	19287155	CNVD
Hereditary breast	19566914	CNVD
Ovarian cancer	19047089	CNVD
Ovarian cancer	19566914	CNVD
Triple-negative breast cancer	18950515	CNVD
Breast cancer	16846527	CNVD
Bladder cancer	21909424	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Neuroticism	17667963	CNVD
Prostate cancer	19156837	CNVD
Williams-beuren syndrome	18553513	CNVD
Mental retardation	17847001	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Ewing''s sarcoma	18628472	CNVD
Glioblastoma multiforme	18628472	CNVD
Leukemia	18628472	CNVD
Acute myeloid leukemia	21251322	CNVD
Astrocytoma	22246337	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	22817714	CNVD
Non-syndromic sensorineural hearing loss	21084979	CNVD
Ewing''s sarcoma	22429812	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Melanoma	17363583	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21509527	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Ovarian cancer	21720365	CNVD
Urothelial carcinoma	21177765	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
early-passage human iPS cells	21368824	CNVD
Melanoma	20877625	CNVD
Adenoid cystic carcinoma	18332873	CNVD

Chromatin state (count:8961 , 50 per page) page: 1 2 3 4 5 6 7 ... 180

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:43640600-43653000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr17:43640800-43652800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr17:43640800-43653800	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr17:43640800-43660200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr17:43641000-43651600	Weak transcription	Primary hematopoietic stem cells	blood
6	chr17:43641400-43657200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr17:43644200-43651200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr17:43645400-43652600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr17:43645800-43652600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr17:43645800-43653400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr17:43646000-43651200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr17:43646000-43651200	Weak transcription	Primary T helper cells PMA-I stimulated	--
13	chr17:43646000-43660200	Weak transcription	Primary B cells from peripheral blood	blood
14	chr17:43647000-43656200	Weak transcription	Left Ventricle	heart
15	chr17:43647800-43659000	Weak transcription	Primary T cells fromperipheralblood	blood
16	chr17:43648200-43652600	Weak transcription	Fetal Thymus	thymus
17	chr17:43649200-43653000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr17:43649400-43652800	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr17:43649600-43651800	Weak transcription	HUVEC	blood vessel
20	chr17:43649600-43656800	Weak transcription	Duodenum Mucosa	Duodenum
21	chr17:43649600-43657000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr17:43649600-43658600	Weak transcription	Primary T cells from cord blood	blood
23	chr17:43649600-43659200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr17:43649600-43659200	Weak transcription	Fetal Brain Female	brain
25	chr17:43649800-43652400	Weak transcription	Fetal Muscle Trunk	muscle
26	chr17:43649800-43654400	Weak transcription	Esophagus	oesophagus
27	chr17:43649800-43654400	Weak transcription	Thymus	Thymus
28	chr17:43649800-43656400	Weak transcription	Brain Anterior Caudate	brain
29	chr17:43649800-43660200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr17:43650000-43653000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr17:43650600-43652200	Weak transcription	Hela-S3	cervix
32	chr17:43650800-43651200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr17:43650800-43651200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr17:43650800-43651200	Enhancers	Aorta	Aorta
35	chr17:43650800-43651400	Strong transcription	Monocytes-CD14+_RO01746	blood
36	chr17:43650800-43652200	Enhancers	Osteobl	bone
37	chr17:43650800-43652400	Strong transcription	Primary B cells from cord blood	blood
38	chr17:43650800-43653200	Enhancers	NHLF	lung
39	chr17:43650800-43653800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
40	chr17:43650800-43655400	Genic enhancers	Brain Angular Gyrus	brain
41	chr17:43651000-43651200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
42	chr17:43651000-43651200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr17:43651000-43651200	Enhancers	HUES64 Cell Line	embryonic stem cell
44	chr17:43651000-43651200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr17:43651000-43651200	Enhancers	Brain Germinal Matrix	brain
46	chr17:43651000-43651200	Enhancers	Sigmoid Colon	Sigmoid Colon
47	chr17:43651000-43651200	Genic enhancers	Dnd41	blood
48	chr17:43651000-43651400	Enhancers	NHDF-Ad	bronchial
49	chr17:43651000-43651600	Enhancers	HUES48 Cell Line	embryonic stem cell
50	chr17:43651000-43651600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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