Variant report

Variant	nsv1023003
Chromosome Location	chr8:43078010-43414929
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1493)
CpG islands
(count:3172)
Chromatin interactive
region (count:361)
LncRNA
region (count:20)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1493 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr8:43094373-43097182	K562	blood:	n/a	n/a
2	ATF1	chr8:43092711-43094031	K562	blood:	n/a	n/a
3	ATF2	chr8:43108749-43109645	GM12878	blood:	n/a	n/a
4	ATF2	chr8:43108629-43109665	GM12878	blood:	n/a	n/a
5	ATF3	chr8:43136024-43136278	K562	blood:	n/a	n/a
6	ATF3	chr8:43092744-43093362	H1-hESC	embryonic stem cell:	n/a	n/a
7	ATF3	chr8:43093031-43093316	GM12878	blood:	n/a	n/a
8	ATF3	chr8:43135995-43136320	GM12878	blood:	n/a	n/a
9	ATF3	chr8:43135865-43136266	HepG2	liver:	n/a	n/a
10	ATF3	chr8:43136037-43136199	HepG2	liver:	n/a	n/a
11	ATF3	chr8:43147119-43147233	K562	blood:	n/a	n/a
12	ATF3	chr8:43092762-43093021	GM12878	blood:	n/a	n/a
13	BACH1	chr8:43092590-43097183	K562	blood:	n/a	n/a
14	BATF	chr8:43109104-43109534	GM12878	blood:	n/a	chr8:43109272-43109283
15	BATF	chr8:43108719-43109805	GM12878	blood:	n/a	chr8:43109272-43109283
16	BATF	chr8:43109976-43110180	GM12878	blood:	n/a	n/a
17	BATF	chr8:43109893-43110159	GM12878	blood:	n/a	n/a
18	BCL11A	chr8:43093044-43093315	H1-hESC	embryonic stem cell:	n/a	n/a
19	BCL11A	chr8:43109074-43109557	GM12878	blood:	n/a	n/a
20	BCL11A	chr8:43092760-43093018	H1-hESC	embryonic stem cell:	n/a	n/a
21	BCL11A	chr8:43109237-43109516	GM12878	blood:	n/a	n/a
22	BCL3	chr8:43109125-43109600	GM12878	blood:	n/a	n/a
23	BHLHE40	chr8:43135971-43136325	HepG2	liver:	n/a	n/a
24	BHLHE40	chr8:43096328-43097227	HepG2	liver:	n/a	n/a
25	BHLHE40	chr8:43094597-43095487	HepG2	liver:	n/a	n/a
26	BHLHE40	chr8:43109185-43109506	GM12878	blood:	n/a	n/a
27	BHLHE40	chr8:43135956-43136331	K562	blood:	n/a	n/a
28	BHLHE40	chr8:43095678-43096317	HepG2	liver:	n/a	n/a
29	BHLHE40	chr8:43092680-43093343	HepG2	liver:	n/a	n/a
30	BHLHE40	chr8:43135956-43136341	GM12878	blood:	n/a	n/a
31	BHLHE40	chr8:43147157-43147318	K562	blood:	n/a	chr8:43147193-43147202
32	BHLHE40	chr8:43093607-43094086	HepG2	liver:	n/a	n/a
33	BRCA1	chr8:43092712-43097416	HepG2	liver:	n/a	n/a
34	BRCA1	chr8:43092713-43097248	Hela-S3	cervix:	n/a	n/a
35	CBX3	chr8:43135925-43136324	K562	blood:	n/a	n/a
36	CBX3	chr8:43136043-43136239	K562	blood:	n/a	n/a
37	CCNT2	chr8:43092712-43097183	K562	blood:	n/a	n/a
38	CCNT2	chr8:43136064-43136182	K562	blood:	n/a	n/a
39	CEBPB	chr8:43082900-43083044	K562	blood:	n/a	n/a
40	CEBPB	chr8:43145445-43145645	HepG2	liver:	n/a	chr8:43145521-43145532 chr8:43145523-43145532
41	CEBPB	chr8:43198145-43198345	HepG2	liver:	n/a	chr8:43198226-43198237
42	CEBPB	chr8:43373772-43373988	A549	lung:	n/a	chr8:43373832-43373843
43	CEBPB	chr8:43094978-43095337	HepG2	liver:	n/a	n/a
44	CEBPB	chr8:43303234-43303525	HepG2	liver:	n/a	chr8:43303409-43303422 chr8:43303410-43303421
45	CEBPB	chr8:43306501-43306786	IMR90	lung:	n/a	chr8:43306646-43306657 chr8:43306657-43306668
46	CEBPB	chr8:43306476-43306804	HepG2	liver:	n/a	chr8:43306646-43306657 chr8:43306657-43306668
47	CEBPB	chr8:43145377-43145724	ECC-1	luminal epithelium:	n/a	chr8:43145521-43145532 chr8:43145523-43145532
48	CEBPB	chr8:43221409-43221449	HepG2	liver:	n/a	n/a
49	CEBPB	chr8:43414546-43414811	Hela-S3	cervix:	n/a	n/a
50	CEBPB	chr8:43096381-43096773	HepG2	liver:	n/a	n/a

(count:3172 , 50 per page) page: 1 2 3 4 5 6 7 ... 64

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:43132256-43132306	HUVEC	blood vessel:	n/a
2	chr8:43136162-43136212	SK-N-MC	brain:	n/a
3	chr8:43129374-43129424	HCT-116	colon:	n/a
4	chr8:43157775-43157825	SK-N-SH_RA	brain:	n/a
5	chr8:43146218-43146268	HEK293	kidney:	embryo
6	chr8:43402930-43402980	GM19239	blood:	n/a
7	chr8:43102008-43102058	RPTEC	kidney:	n/a
8	chr8:43124515-43124565	NH-A	brain:	n/a
9	chr8:43131431-43131481	SKMC	muscle:	n/a
10	chr8:43129726-43129776	GM12878	blood:	n/a
11	chr8:43127238-43127288	HCF	heart:	n/a
12	chr8:43401874-43401924	HCM	heart:	n/a
13	chr8:43147581-43147631	Hela-S3	cervix:	n/a
14	chr8:43213875-43213925	SAEC	small airway:	n/a
15	chr8:43129374-43129424	H1-hESC	embryonic stem cell:	embryo
16	chr8:43147397-43147447	HEEpiC	esophagus:	n/a
17	chr8:43147581-43147631	GM12891	blood:	n/a
18	chr8:43101403-43101453	SK-N-MC	brain:	n/a
19	chr8:43105801-43105851	NHDF-neo	bronchial:	n/a
20	chr8:43105801-43105851	RPTEC	kidney:	n/a
21	chr8:43132451-43132501	HRPEpiC	eye:	n/a
22	chr8:43147564-43147614	K562	blood:	n/a
23	chr8:43132256-43132306	AG04449	skin:	fetal
24	chr8:43147741-43147791	IMR90	lung:	fetal
25	chr8:43101900-43101950	HMEC	breast:	n/a
26	chr8:43105801-43105851	GM19239	blood:	n/a
27	chr8:43131431-43131481	ProgFib	skin:	n/a
28	chr8:43147564-43147614	HepG2	liver:	n/a
29	chr8:43401874-43401924	Jurkat	blood:	n/a
30	chr8:43131353-43131403	HCT-116	colon:	n/a
31	chr8:43405739-43405789	HRCEpiC	kidney:	n/a
32	chr8:43131353-43131403	AG09309	skin:	n/a
33	chr8:43127072-43127122	SK-N-MC	brain:	n/a
34	chr8:43131431-43131481	SAEC	small airway:	n/a
35	chr8:43404458-43404508	AG04450	lung:	fetal
36	chr8:43146388-43146438	ECC-1	luminal epithelium:	n/a
37	chr8:43101622-43101672	SAEC	small airway:	n/a
38	chr8:43406314-43406364	K562	blood:	n/a
39	chr8:43275453-43275503	ovcar-3	ovarian:	n/a
40	chr8:43102008-43102058	HepG2	liver:	n/a
41	chr8:43275453-43275503	MCF-7	breast:	n/a
42	chr8:43131260-43131310	U87	brain:	n/a
43	chr8:43101403-43101453	LNCaP	prostate:	n/a
44	chr8:43275453-43275503	Hepatocyte	liver:	n/a
45	chr8:43132256-43132306	A549	lung:	n/a
46	chr8:43147564-43147614	HEEpiC	esophagus:	n/a
47	chr8:43129374-43129424	GM12878	blood:	n/a
48	chr8:43101403-43101453	ProgFib	skin:	n/a
49	chr8:43146894-43146944	HRE	kidney:	n/a
50	chr8:43146388-43146438	NHBE	bronchial:	n/a

(count:361 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Distal block	Cell Line	Cell type
1	chr2:109954904..109955904-chr8:43092281..43092908,2	MCF-7	breast:
2	chr1:188145514..188146515-chr8:43095916..43097259,7	MCF-7	breast:
3	chr1:188146013..188146514-chr8:43092410..43092910,2	MCF-7	breast:
4	chr4:188390078..188391598-chr8:43091410..43092931,3	MCF-7	breast:
5	chr8:42948115..42950146-chr8:43255758..43258426,2	K562	blood:
6	chr14:23340529..23342302-chr8:43091410..43093774,2	MCF-7	breast:
7	chr12:61190187..61191167-chr8:43092261..43093429,5	MCF-7	breast:
8	chr8:43092410..43092931-chr9:85470654..85471174,4	MCF-7	breast:
9	chr2:133110121..133110687-chr8:43101237..43102219,2	MCF-7	breast:
10	chr20:56089143..56089800-chr8:43092428..43092931,2	MCF-7	breast:
11	chr6:143209324..143209824-chr8:43096750..43097412,3	MCF-7	breast:
12	chr8:43394978..43396738-chr8:43399115..43401110,2	K562	blood:
13	chr13:54255787..54257307-chr8:43091408..43092931,2	MCF-7	breast:
14	chr1:149857709..149858433-chr8:43092428..43093289,2	MCF-7	breast:
15	chr2:109955404..109956904-chr8:43095971..43098089,2	K562	blood:
16	chr17:59485568..59489232-chr8:43094345..43096984,3	MCF-7	breast:
17	chr8:43092409..43092909-chr8:77157671..77158337,2	MCF-7	breast:
18	chr5:88135765..88136508-chr8:43093519..43094479,2	MCF-7	breast:
19	chr2:162166745..162168245-chr8:43096750..43098253,2	MCF-7	breast:
20	chr17:57921464..57922103-chr8:43092929..43093431,2	MCF-7	breast:
21	chr12:29436722..29437227-chr8:43092930..43093430,2	MCF-7	breast:
22	chr8:43094206..43095212-chrX:124181042..124181542,3	MCF-7	breast:
23	chr12:61189187..61190689-chr8:43092929..43094431,2	MCF-7	breast:
24	chr17:59984614..59986749-chr8:43091410..43092930,2	MCF-7	breast:
25	chr5:25237065..25240045-chr8:43091410..43092910,2	K562	blood:
26	chr3:3995189..3996691-chr8:43091408..43092911,2	MCF-7	breast:
27	chr14:25841073..25841573-chr8:43094202..43095005,2	MCF-7	breast:
28	chr4:101370568..101371068-chr8:43096224..43096730,2	MCF-7	breast:
29	chr13:40006578..40007559-chr8:43092929..43093431,2	MCF-7	breast:
30	chr10:29692523..29694023-chr8:43093730..43096075,4	K562	blood:
31	chr8:43092929..43095232-chrX:25126042..25127564,2	K562	blood:
32	chr11:83756394..83757894-chr8:43091429..43092930,2	MCF-7	breast:
33	chr11:115753180..115754160-chr8:43096750..43097251,2	MCF-7	breast:
34	chr5:25238045..25238565-chr8:43094374..43095232,3	MCF-7	breast:
35	chr17:59939918..59942263-chr8:43095062..43096734,2	MCF-7	breast:
36	chr8:43091408..43093430-chr8:43094417..43096912,15	MCF-7	breast:
37	chr12:29435723..29438704-chr8:43094408..43095931,2	K562	blood:
38	chr12:100948417..100949281-chr8:43092430..43093429,2	MCF-7	breast:
39	chr20:46133444..46136258-chr8:43092929..43095847,2	MCF-7	breast:
40	chr20:52950136..52950670-chr8:43092410..43092910,2	MCF-7	breast:
41	chr13:36123641..36125141-chr8:43095070..43096726,2	K562	blood:
42	chr17:57919221..57920753-chr8:43091408..43092929,2	MCF-7	breast:
43	chr8:43091408..43093800-chr8:43095231..43097056,5	K562	blood:
44	chr11:123166232..123167752-chr8:43091411..43092930,2	MCF-7	breast:
45	chr2:171314129..171314649-chr8:43092410..43092929,2	MCF-7	breast:
46	chr8:43094720..43097471-chrX:149155394..149156894,2	MCF-7	breast:
47	chr20:10902696..10903676-chr8:43093278..43093908,2	MCF-7	breast:
48	chr7:103809053..103809753-chr8:43096226..43096785,2	MCF-7	breast:
49	chr3:121920901..121921421-chr8:43094593..43095218,2	MCF-7	breast:
50	chr4:120183161..120184141-chr8:43095223..43095920,2	MCF-7	breast:

(count:20 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-HGSNAT-8	chr8:43349080-43349905	NONHSAT126357
2	lnc-HGSNAT-5	chr8:43233441-43233652	NONHSAT126354
3	lnc-HGSNAT-7	chr8:43307943-43308055	NONHSAT126356
4	lnc-HGSNAT-7	chr8:43298045-43298224	NONHSAT126356
5	lnc-RNF170-1	chr8:43096866-43097076	NONHSAT126341
6	lnc-HGSNAT-9	chr8:43368786-43369564	NONHSAT126361
7	lnc-RNF170-5	chr8:43095855-43096073	NONHSAT126340
8	lnc-HGSNAT-7	chr8:43303948-43304047	NONHSAT126356
9	lnc-HGSNAT-2	chr8:43109018-43109232	NONHSAT126346
10	lnc-HGSNAT-7	chr8:43299491-43299558	NONHSAT126356
11	lnc-HGSNAT-10	chr8:43394280-43394615	NONHSAT126362
12	lnc-RNF170-8	chr8:43366963-43367176	NONHSAT126358
13	lnc-RNF170-5	chr8:43094654-43095063	NONHSAT126340
14	lnc-HGSNAT-4	chr8:43169091-43169343	NONHSAT126351
15	lnc-RNF170-1	chr8:43097495-43097508	NONHSAT126341
16	lnc-HGSNAT-6	chr8:43236787-43237091	NONHSAT126355
17	lnc-HGSNAT-7	chr8:43306599-43306780	NONHSAT126356
18	lnc-RNF170-1	chr8:43096867-43097076	XLOC_007077
19	lnc-HGSNAT-2	chr8:43108875-43108959	NONHSAT126346
20	lnc-RNF170-1	chr8:43097496-43097508	XLOC_007077

No data

Variant related genes	Relation type
CYP4F44P	TF binding region
ENSG00000253195	TF binding region
ENSG00000254145	TF binding region
ENSG00000250637	TF binding region
VN1R46P	TF binding region
ENSG00000255166	TF binding region
ENSG00000221295	TF binding region
ENSG00000201329	TF binding region
ENSG00000255497	TF binding region
AFG3L2P1	TF binding region
ENSG00000253884	TF binding region
ENSG00000253186	TF binding region
ENSG00000254342	TF binding region
RN7SKP41	TF binding region
POTEA	TF binding region
ENSG00000253486	TF binding region
ENSG00000253707	TF binding region
ENSG00000253319	TF binding region
RNU6-104P	TF binding region
SNX18P27	TF binding region
ENSG00000264094	TF binding region
ENSG00000253312	TF binding region
ENSG00000234713	TF binding region
ENSG00000254069	TF binding region
CYP4F44P	CpG island
ENSG00000253195	CpG island
ENSG00000254145	CpG island
ENSG00000250637	CpG island
VN1R46P	CpG island
ENSG00000255166	CpG island
ENSG00000221295	CpG island
ENSG00000201329	CpG island
ENSG00000255497	CpG island
AFG3L2P1	CpG island
ENSG00000253884	CpG island
ENSG00000253186	CpG island
ENSG00000254342	CpG island
RN7SKP41	CpG island
POTEA	CpG island
ENSG00000253486	CpG island
ENSG00000253707	CpG island
ENSG00000253319	CpG island
RNU6-104P	CpG island
SNX18P27	CpG island
ENSG00000264094	CpG island
ENSG00000253312	CpG island
ENSG00000234713	CpG island
ENSG00000254069	CpG island
ENSG00000185900	chromatin interactions
ENSG00000165102	chromatin interactions
ENSG00000169189	chromatin interactions
ENSG00000204569	chromatin interactions
ENSG00000197324	chromatin interactions
ENSG00000177731	chromatin interactions
ENSG00000267280	chromatin interactions
ENSG00000163466	chromatin interactions
ENSG00000111371	chromatin interactions
ENSG00000147526	chromatin interactions
ENSG00000108592	chromatin interactions
ENSG00000167700	chromatin interactions
ENSG00000087191	chromatin interactions
ENSG00000238509	chromatin interactions
ENSG00000253748	chromatin interactions
ENSG00000230992	chromatin interactions
ENSG00000222894	chromatin interactions
ENSG00000108654	chromatin interactions
ENSG00000145390	chromatin interactions
ENSG00000124171	chromatin interactions
ENSG00000131051	chromatin interactions
ENSG00000253195	chromatin interactions
ENSG00000245888	chromatin interactions
ENSG00000187013	chromatin interactions
ENSG00000116774	chromatin interactions
ENSG00000184678	chromatin interactions
ENSG00000159063	chromatin interactions
ENSG00000121068	chromatin interactions
ENSG00000136021	chromatin interactions
ENSG00000136492	chromatin interactions
ENSG00000146192	chromatin interactions
ENSG00000163636	chromatin interactions
ENSG00000167513	chromatin interactions

Extended variants
information (count: 6829 )
Associated
traits (count: 112 )

Variant overlapped rSNPs/rCNVs (count:6829 , 50 per page) page: 1 2 3 4 5 6 7 ... 137

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs188346484	chr8:43084831-43084832	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs561189480	chr8:43084851-43084852	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs530045737	chr8:43084870-43084871	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs543627120	chr8:43084871-43084872	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs563517566	chr8:43084889-43084890	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs193188869	chr8:43084948-43084949	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs551858802	chr8:43084988-43084989	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs571511807	chr8:43085019-43085020	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs80100844	chr8:43085040-43085041	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs144555483	chr8:43085120-43085121	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs184661221	chr8:43085166-43085167	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs536579209	chr8:43085177-43085178	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs565398298	chr8:43085304-43085305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs146637407	chr8:43085340-43085341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs149181161	chr8:43085341-43085342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs143351547	chr8:43085366-43085367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs79832754	chr8:43085373-43085374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs7845889	chr8:43085378-43085379	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs373001855	chr8:43085387-43085388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs189941616	chr8:43085391-43085392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs554639557	chr8:43085417-43085418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs574778316	chr8:43085450-43085451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs373487212	chr8:43085457-43085458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs117464867	chr8:43085465-43085466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs180749582	chr8:43085516-43085517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs183655494	chr8:43085520-43085521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs532348327	chr8:43085528-43085529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs73571592	chr8:43085561-43085562	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs148318335	chr8:43085574-43085575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs562998328	chr8:43085667-43085668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs527808193	chr8:43085710-43085711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs536355410	chr8:43085711-43085712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs117777088	chr8:43085722-43085723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs530323656	chr8:43085772-43085773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs372412745	chr8:43085832-43085833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs398007642	chr8:43085848-43085849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs374083499	chr8:43085857-43085858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs367918113	chr8:43085861-43085862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs10104151	chr8:43085868-43085869	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs199950465	chr8:43085912-43085913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs570108798	chr8:43085934-43085935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs554900484	chr8:43085936-43085937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs138336775	chr8:43085941-43085942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs200931750	chr8:43085980-43085981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs558915288	chr8:43086080-43086081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs565753936	chr8:43086138-43086139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs534750661	chr8:43086142-43086143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs10086958	chr8:43086170-43086171	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs574491143	chr8:43086179-43086180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs11785330	chr8:43086257-43086258	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:112)

Disease	PMID	Source
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Breast cancer	20837533	CNVD
Squamous cell cancer	21044232	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	22429812	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21264507	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	21386901	CNVD
Prostate cancer	21088497	CNVD
Prostate cancer	21965145	CNVD
Breast cancer	20940404	CNVD
Colorectal cancer	19359472	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Gastric cancer	17167181	CNVD
Prostate cancer	16705090	CNVD
8p-syndrome	17576883	CNVD
Colorectal cancer	16272173	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Prostate cancer	17245344	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Cancer	16751803	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute myeloid leukemia	20729466	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Seminomas	18059402	CNVD
Myxofibrosarcoma	16751306	CNVD
Immune disease	21572526	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Kallmann Syndrome 2	22470819	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Lung cancer	18438408	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Pancreatic cancer	21811587	CNVD
Multiple myeloma	16461302	CNVD
Developmental delay	21373258	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Disorders of sex development	21048976	CNVD
Testicular cancer	18059402	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hepatocellular carcinoma	16750200	CNVD
Bladder cancer	19088036	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Breast cancer	17001308	CNVD
Breast cancer	17157792	CNVD
Cancer	17001308	CNVD
Cancer	18840272	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Chordoma	18071362	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Breast cancer	16608533	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21785460	CNVD
Rhabdomyosarcoma	16790082	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Medulloblastoma	19270706	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Breast cancer	21045282	CNVD
Lung cancer	17925434	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Sezary syndrome	18413736	CNVD
Cancer	20164919	CNVD
primary effusion lymphomas	17116491	CNVD
Esophageal cancer	20955586	CNVD
abnormal development	18461090	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
Breast cancer	22522925	CNVD
Mental retardation	17124404	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Medulloblastoma	20607354	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD

Chromatin state (count:549 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:43084800-43085200	Enhancers	Muscle Satellite Cultured Cells	--
2	chr8:43084800-43085200	Enhancers	NHEK	skin
3	chr8:43085200-43092800	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr8:43085200-43092800	Weak transcription	NHEK	skin
5	chr8:43086200-43092800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr8:43086800-43087200	Enhancers	Gastric	stomach
7	chr8:43088400-43088600	Enhancers	Osteobl	bone
8	chr8:43088400-43089000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr8:43088600-43092800	Weak transcription	Osteobl	bone
10	chr8:43088800-43089200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
11	chr8:43089000-43092800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr8:43092200-43092400	Weak transcription	Ovary	ovary
13	chr8:43092200-43092800	Weak transcription	Fetal Lung	lung
14	chr8:43092200-43092800	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr8:43092400-43092600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr8:43092400-43092600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr8:43092400-43092600	Weak transcription	HSMMtube	muscle
18	chr8:43092400-43092800	Weak transcription	HMEC	breast
19	chr8:43092600-43092800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
20	chr8:43092600-43092800	Bivalent Enhancer	HUVEC	blood vessel
21	chr8:43092600-43098000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
22	chr8:43092600-43099800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
23	chr8:43092800-43093000	Bivalent Enhancer	Gastric	stomach
24	chr8:43092800-43093000	Bivalent Enhancer	HSMM	muscle
25	chr8:43092800-43093200	Flanking Bivalent TSS/Enh	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr8:43092800-43093200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
27	chr8:43092800-43093200	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
28	chr8:43092800-43093200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr8:43092800-43093200	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood
30	chr8:43092800-43093200	ZNF genes & repeats	Fetal Heart	heart
31	chr8:43092800-43093200	ZNF genes & repeats	Ovary	ovary
32	chr8:43092800-43093200	Flanking Bivalent TSS/Enh	Placenta Amnion	Placenta Amnion
33	chr8:43092800-43093200	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
34	chr8:43092800-43093200	ZNF genes & repeats	Thymus	Thymus
35	chr8:43092800-43093400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr8:43092800-43093400	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr8:43092800-43093400	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr8:43092800-43093400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr8:43092800-43093400	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
40	chr8:43092800-43093400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
41	chr8:43092800-43093400	Flanking Bivalent TSS/Enh	Primary T helper memory cells from peripheral blood 2	blood
42	chr8:43092800-43093400	Flanking Bivalent TSS/Enh	Primary T helper naive cells from peripheral blood	blood
43	chr8:43092800-43093400	Flanking Bivalent TSS/Enh	Primary T helper naive cells fromperipheralblood	blood
44	chr8:43092800-43093400	Flanking Bivalent TSS/Enh	Primary T helper 17 cells PMA-I stimulated	--
45	chr8:43092800-43093400	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
46	chr8:43092800-43093400	Flanking Bivalent TSS/Enh	Primary T killer memory cells from peripheral blood	blood
47	chr8:43092800-43093400	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
48	chr8:43092800-43093400	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr8:43092800-43093400	Flanking Bivalent TSS/Enh	Brain Anterior Caudate	brain
50	chr8:43092800-43093400	ZNF genes & repeats	Brain Hippocampus Middle	brain

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