Variant report

Variant	nsv888327
Chromosome Location	chr7:65938980-66029429
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2430)
CpG islands
(count:2322)
Chromatin interactive
region (count:43)
LncRNA
region (count:45)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2430 , 50 per page) page: 1 2 3 4 5 6 7 ... 49

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr7:66022691-66022880	K562	blood:	n/a	n/a
2	ARID3A	chr7:65958401-65958761	K562	blood:	n/a	n/a
3	ARID3A	chr7:66004801-66005242	K562	blood:	n/a	n/a
4	ARID3A	chr7:65967097-65967696	HepG2	liver:	n/a	n/a
5	ARID3A	chr7:65965388-65965400	K562	blood:	n/a	n/a
6	ARID3A	chr7:66022589-66022805	HepG2	liver:	n/a	n/a
7	ARID3A	chr7:65995312-65995357	HepG2	liver:	n/a	n/a
8	ARID3A	chr7:65967331-65967580	K562	blood:	n/a	n/a
9	ARID3A	chr7:65985580-65985933	HepG2	liver:	n/a	n/a
10	ARID3A	chr7:66000495-66001263	HepG2	liver:	n/a	n/a
11	ARID3A	chr7:65958427-65958908	HepG2	liver:	n/a	n/a
12	ATF1	chr7:66004897-66005229	K562	blood:	n/a	n/a
13	ATF1	chr7:65958161-65958919	K562	blood:	n/a	n/a
14	ATF1	chr7:65965201-65965426	K562	blood:	n/a	n/a
15	ATF2	chr7:65958148-65958988	GM12878	blood:	n/a	chr7:65958591-65958602
16	ATF2	chr7:65958277-65958805	H1-hESC	embryonic stem cell:	n/a	chr7:65958591-65958602
17	ATF2	chr7:65958263-65958794	GM12878	blood:	n/a	chr7:65958591-65958602
18	ATF2	chr7:65957990-65958817	H1-hESC	embryonic stem cell:	n/a	chr7:65958591-65958602
19	ATF3	chr7:65967324-65967551	K562	blood:	n/a	n/a
20	ATF3	chr7:65965137-65965384	GM12878	blood:	n/a	n/a
21	ATF3	chr7:65958310-65958762	H1-hESC	embryonic stem cell:	n/a	chr7:65958593-65958600 chr7:65958590-65958603 chr7:65958590-65958600 chr7:65958589-65958602 chr7:65958593-65958603 chr7:65958581-65958601 chr7:65958589-65958604 chr7:65958591-65958602 chr7:65958591-65958602 chr7:65958592-65958612 chr7:65958591-65958604 chr7:65958592-65958600 chr7:65958592-65958603 chr7:65958590-65958600
22	ATF3	chr7:65967328-65967692	K562	blood:	n/a	n/a
23	ATF3	chr7:65958339-65959076	K562	blood:	n/a	chr7:65958593-65958600 chr7:65958590-65958603 chr7:65958590-65958600 chr7:65958589-65958602 chr7:65958593-65958603 chr7:65958581-65958601 chr7:65958589-65958604 chr7:65958591-65958602 chr7:65958591-65958602 chr7:65958592-65958612 chr7:65958591-65958604 chr7:65958592-65958600 chr7:65958592-65958603 chr7:65958590-65958600
24	ATF3	chr7:65965101-65965362	K562	blood:	n/a	n/a
25	ATF3	chr7:66022609-66022840	K562	blood:	n/a	n/a
26	ATF3	chr7:65958424-65958784	H1-hESC	embryonic stem cell:	n/a	chr7:65958593-65958600 chr7:65958590-65958603 chr7:65958590-65958600 chr7:65958589-65958602 chr7:65958593-65958603 chr7:65958581-65958601 chr7:65958589-65958604 chr7:65958591-65958602 chr7:65958591-65958602 chr7:65958592-65958612 chr7:65958591-65958604 chr7:65958592-65958600 chr7:65958592-65958603 chr7:65958590-65958600
27	BACH1	chr7:66004928-66005056	K562	blood:	n/a	n/a
28	BATF	chr7:65958123-65958629	GM12878	blood:	n/a	chr7:65958590-65958603
29	BATF	chr7:65965185-65965423	GM12878	blood:	n/a	n/a
30	BCL3	chr7:65965095-65965333	GM12878	blood:	n/a	n/a
31	BCL3	chr7:65958195-65959048	A549	lung:	n/a	chr7:65959026-65959039
32	BCLAF1	chr7:65958171-65958799	GM12878	blood:	n/a	n/a
33	BHLHE40	chr7:65958536-65959089	HepG2	liver:	n/a	n/a
34	BHLHE40	chr7:65958347-65959144	K562	blood:	n/a	n/a
35	BHLHE40	chr7:65958333-65959123	GM12878	blood:	n/a	n/a
36	BHLHE40	chr7:65965157-65965436	HepG2	liver:	n/a	n/a
37	BHLHE40	chr7:66003163-66003197	K562	blood:	n/a	n/a
38	BHLHE40	chr7:65965077-65965447	K562	blood:	n/a	n/a
39	BHLHE40	chr7:66022608-66022879	GM12878	blood:	n/a	n/a
40	BHLHE40	chr7:66022596-66022908	K562	blood:	n/a	n/a
41	BHLHE40	chr7:65967477-65967602	K562	blood:	n/a	n/a
42	BHLHE40	chr7:66004895-66005261	K562	blood:	n/a	n/a
43	BHLHE40	chr7:66006360-66006478	K562	blood:	n/a	n/a
44	BRCA1	chr7:66022658-66022828	GM12878	blood:	n/a	n/a
45	BRCA1	chr7:65958216-65958854	H1-hESC	embryonic stem cell:	n/a	n/a
46	BRCA1	chr7:65958365-65958929	Hela-S3	cervix:	n/a	n/a
47	BRCA1	chr7:65967871-65967905	HepG2	liver:	n/a	n/a
48	BRCA1	chr7:66000548-66000686	HepG2	liver:	n/a	n/a
49	BRCA1	chr7:65958349-65958908	GM12878	blood:	n/a	n/a
50	BRCA1	chr7:65958412-65958935	HepG2	liver:	n/a	n/a

(count:2322 , 50 per page) page: 1 2 3 4 5 6 7 ... 47

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:66001814-66001864	GM12892	blood:	n/a
2	chr7:66021592-66021642	LNCaP	prostate:	n/a
3	chr7:65968160-65968210	RPTEC	kidney:	n/a
4	chr7:65959203-65959253	ECC-1	luminal epithelium:	n/a
5	chr7:66001814-66001864	GM12892	blood:	n/a
6	chr7:66021592-66021642	LNCaP	prostate:	n/a
7	chr7:65968160-65968210	RPTEC	kidney:	n/a
8	chr7:65959203-65959253	ECC-1	luminal epithelium:	n/a
9	chr7:66022277-66022327	PFSK-1	brain:	n/a
10	chr7:65961473-65961523	AoSMC	blood vessel:	n/a
11	chr7:66024309-66024359	BE2_C	brain:	n/a
12	chr7:65969653-65969703	LNCaP	prostate:	n/a
13	chr7:65959203-65959253	AG04450	lung:	fetal
14	chr7:65957836-65957886	GM12878	blood:	n/a
15	chr7:65967833-65967883	MCF-7	breast:	n/a
16	chr7:65958983-65959033	HEK293	kidney:	embryo
17	chr7:66024309-66024359	HCF	heart:	n/a
18	chr7:65958596-65958646	HCT-116	colon:	n/a
19	chr7:65958832-65958882	HUVEC	blood vessel:	n/a
20	chr7:66022069-66022119	HAEpiC	amniotic membrane:	n/a
21	chr7:65969653-65969703	Hepatocyte	liver:	n/a
22	chr7:65959120-65959170	NB4	blood:	n/a
23	chr7:65971099-65971149	Caco-2	colon:	n/a
24	chr7:65957836-65957886	HIPEpiC	eye:	n/a
25	chr7:66001814-66001864	HUVEC	blood vessel:	n/a
26	chr7:65975377-65975427	GM19239	blood:	n/a
27	chr7:65939712-65939762	BE2_C	brain:	n/a
28	chr7:65939595-65939645	HMEC	breast:	n/a
29	chr7:65971710-65971760	NHDF-neo	bronchial:	n/a
30	chr7:65967833-65967883	AG10803	skin:	n/a
31	chr7:66021592-66021642	AG04449	skin:	fetal
32	chr7:66022277-66022327	HMEC	breast:	n/a
33	chr7:66001814-66001864	SK-N-SH	brain:	n/a
34	chr7:65971099-65971149	NB4	blood:	n/a
35	chr7:66020969-66021019	HRE	kidney:	n/a
36	chr7:65939507-65939557	HMEC	breast:	n/a
37	chr7:65970138-65970188	PANC-1	pancreas:	n/a
38	chr7:66022074-66022124	A549	lung:	n/a
39	chr7:65939712-65939762	HCF	heart:	n/a
40	chr7:66022277-66022327	SK-N-MC	brain:	n/a
41	chr7:65971710-65971760	NHBE	bronchial:	n/a
42	chr7:65970138-65970188	CMK	blood:	n/a
43	chr7:65958608-65958658	BJ	skin:	n/a
44	chr7:65970924-65970974	HPAEpiC	pulmonary alveolar:	n/a
45	chr7:65970138-65970188	HepG2	liver:	n/a
46	chr7:65939595-65939645	ECC-1	luminal epithelium:	n/a
47	chr7:66001814-66001864	HEK293	kidney:	embryo
48	chr7:66021476-66021526	HCPEpiC	choroid plexus:	n/a
49	chr7:65939712-65939762	HAEpiC	amniotic membrane:	n/a
50	chr7:65939507-65939557	HIPEpiC	eye:	n/a

(count:43 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:65989809..65991457-chr7:66118280..66120240,2	MCF-7	breast:
2	chr7:65957063..65960657-chr7:65965998..65969796,7	K562	blood:
3	chr19:16739452..16740014-chr7:65958189..65958701,2	Hela-S3	cervix:
4	chr14:91976833..91977386-chr7:65958200..65958825,2	Hela-S3	cervix:
5	chr7:65987381..65988204-chr7:66359678..66360259,2	MCF-7	breast:
6	chr7:65986212..65988963-chr7:66358984..66361433,2	K562	blood:
7	chr7:66022427..66024519-chr7:66145511..66147231,2	MCF-7	breast:
8	chr7:65967192..65970542-chr7:65973733..65976638,3	MCF-7	breast:
9	chr1:151964898..151965662-chr7:65958265..65958765,2	Hela-S3	cervix:
10	chr7:65957382..65960017-chr7:65960447..65962133,2	K562	blood:
11	chr7:65996716..65999287-chr7:66000647..66003151,2	K562	blood:
12	chr7:65962598..65964845-chr7:65967128..65969583,2	K562	blood:
13	chr7:65996716..65999287-chr7:66000647..66003151,2	K562	blood:
14	chr7:65958803..65960399-chr7:66390332..66392925,2	K562	blood:
15	chr7:65957845..65960105-chr7:65973887..65976639,2	K562	blood:
16	chr7:66013223..66015993-chr7:66016033..66017607,2	K562	blood:
17	chr7:65986307..65988583-chr7:65988591..65990375,2	MCF-7	breast:
18	chr7:66000362..66002580-chr7:66007526..66009182,2	MCF-7	breast:
19	chr1:144533892..144534669-chr7:65958197..65958873,2	Hela-S3	cervix:
20	chr7:65962598..65967020-chr7:65967128..65971576,5	K562	blood:
21	chr7:65964655..65966822-chr7:65973032..65975848,2	K562	blood:
22	chr7:65968128..65969993-chr7:65971875..65973889,2	K562	blood:
23	chr7:66022620..66023535-chr7:66071509..66072091,2	K562	blood:
24	chr7:65958837..65961087-chr7:65974978..65976595,2	K562	blood:
25	chr7:65957063..65958828-chr7:65965766..65967927,2	MCF-7	breast:
26	chr7:65962598..65964845-chr7:65967128..65969583,2	K562	blood:
27	chr7:65957371..65960292-chr7:65968107..65970885,2	MCF-7	breast:
28	chr7:65957205..65961212-chr7:65965422..65969556,4	K562	blood:
29	chr7:65986307..65988583-chr7:65988591..65990375,2	MCF-7	breast:
30	chr7:65958036..65958685-chr7:66309752..66310594,2	Hela-S3	cervix:
31	chr7:65968128..65969993-chr7:65971875..65973889,2	K562	blood:
32	chr7:65957845..65960105-chr7:65973887..65976639,2	K562	blood:
33	chr7:65958424..65959012-chr7:105162357..105162865,2	NB4	blood:
34	chr7:65590686..65593391-chr7:66020104..66022935,2	K562	blood:
35	chr7:66027953..66030074-chr7:66033611..66035977,2	K562	blood:
36	chr7:65986117..65988141-chr7:65988425..65990470,2	K562	blood:
37	chr7:65964655..65966822-chr7:65973032..65975848,2	K562	blood:
38	chr11:33756995..33757978-chr7:65958672..65959243,2	Hela-S3	cervix:
39	chr7:65986117..65988141-chr7:65988425..65990470,2	K562	blood:
40	chr7:66021310..66024220-chr7:66204826..66206647,2	MCF-7	breast:
41	chr22:20255501..20256451-chr7:66020783..66021283,3	K562	blood:
42	chr7:65954258..65957251-chr7:65960921..65963527,2	K562	blood:
43	chr7:66013223..66015993-chr7:66016033..66017607,2	K562	blood:

(count:45 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GUSB-14	chr7:65946528-65946586	NONHSAT121184
2	lnc-SBDS-4	chr7:65993425-65996858	ENSG00000229180
3	lnc-GUSB-14	chr7:65941290-65941314	NONHSAT121184
4	lnc-SBDS-4	chr7:65994516-65995124	NONHSAT121202
5	lnc-SBDS-5	chr7:65958203-65958553	ENSG00000223473
6	lnc-SBDS-4	chr7:66006229-66007536	ENSG00000229180
7	lnc-VKORC1L1-2	chr7:65954243-65954284	ENSG00000249705
8	lnc-GUSB-14	chr7:65952937-65953025	NONHSAT121187
9	lnc-VKORC1L1-2	chr7:65993448-65996860	ENSG00000249705
10	lnc-SBDS-4	chr7:66006229-66007536	ENSG00000229180.4
11	lnc-SBDS-4	chr7:65996778-65996819	NONHSAT121202
12	lnc-TPST1-5	chr7:65962312-65963053	NONHSAT121195
13	lnc-TPST1-6	chr7:65967089-65967868	NONHSAT121196
14	lnc-TPST1-1	chr7:65960242-65960583	XLOC_006133
15	lnc-SBDS-5	chr7:65958203-65958525	ENSG00000223473
16	lnc-GUSB-14	chr7:65945381-65945435	NONHSAT121184
17	lnc-SBDS-4	chr7:66006229-66006924	NONHSAT121204
18	lnc-SBDS-4	chr7:65991075-65996858	ENSG00000229180.4
19	lnc-TPST1-1	chr7:65960242-65960455	XLOC_006133
20	lnc-GUSB-14	chr7:65943996-65944083	NONHSAT121184
21	lnc-SBDS-5	chr7:65958203-65958490	NONHSAT121190
22	lnc-TPST1-1	chr7:65960242-65960583	XLOC_006133
23	lnc-TPST1-1	chr7:65958693-65958724	XLOC_006133
24	lnc-GUSB-14	chr7:65954925-65955094	NONHSAT121187
25	lnc-TPST1-1	chr7:65959183-65959351	XLOC_006133
26	lnc-SBDS-5	chr7:65956765-65957326	NONHSAT121190
27	lnc-GUSB-14	chr7:65950082-65950122	NONHSAT147568
28	lnc-GUSB-14	chr7:65952936-65953025	NONHSAT121184
29	lnc-GUSB-14	chr7:65950082-65950140	NONHSAT121184
30	lnc-GUSB-14	chr7:65956018-65956080	NONHSAT121187
31	lnc-TPST1-1	chr7:65959133-65959199	XLOC_006133
32	lnc-GUSB-14	chr7:65945381-65945435	NONHSAT147568
33	lnc-SBDS-4	chr7:66004846-66004872	NONHSAT121204
34	lnc-TPST1-1	chr7:65960242-65960476	XLOC_006133
35	lnc-GUSB-14	chr7:65943996-65944083	NONHSAT147568
36	lnc-TPST1-1	chr7:65958908-65959008	XLOC_006133
37	lnc-SBDS-5	chr7:65956083-65956458	ENSG00000223473
38	lnc-GUSB-14	chr7:65946528-65946586	NONHSAT147568
39	lnc-SBDS-5	chr7:65956996-65957326	ENSG00000223473
40	lnc-SBDS-5	chr7:65956408-65958553	NONHSAT121189
41	lnc-GUSB-14	chr7:65954925-65955046	NONHSAT121184
42	lnc-GUSB-14	chr7:65941250-65941314	NONHSAT147568
43	lnc-VKORC1L1-2	chr7:66006231-66007536	ENSG00000249705
44	lnc-SBDS-4	chr7:66006229-66007536	NONHSAT121200
45	lnc-SBDS-4	chr7:65992918-65996858	NONHSAT121200

No data

Variant related genes	Relation type
ENSG00000229180	TF binding region
ENSG00000244657	TF binding region
ENSG00000237310	TF binding region
ENSG00000230189	TF binding region
ENSG00000267941	TF binding region
ENSG00000244510	TF binding region
ENSG00000223473	TF binding region
ENSG00000234500	TF binding region
ENSG00000179342	TF binding region
ENSG00000177418	TF binding region
ENSG00000232491	TF binding region
ENSG00000229180	CpG island
ENSG00000244657	CpG island
ENSG00000237310	CpG island
ENSG00000230189	CpG island
ENSG00000267941	CpG island
ENSG00000244510	CpG island
ENSG00000223473	CpG island
ENSG00000234500	CpG island
ENSG00000179342	CpG island
ENSG00000177418	CpG island
ENSG00000232491	CpG island
ENSG00000091127	chromatin interactions
ENSG00000272831	chromatin interactions
ENSG00000197747	chromatin interactions
ENSG00000085063	chromatin interactions
ENSG00000237310	chromatin interactions
ENSG00000040608	chromatin interactions
ENSG00000223473	chromatin interactions
ENSG00000230583	chromatin interactions
ENSG00000179342	chromatin interactions
ENSG00000226824	chromatin interactions
ENSG00000230189	chromatin interactions
ENSG00000244510	chromatin interactions
ENSG00000201699	chromatin interactions
ENSG00000229180	chromatin interactions
ENSG00000241258	chromatin interactions
ENSG00000234500	chromatin interactions
ENSG00000105085	chromatin interactions
ENSG00000154710	chromatin interactions
ENSG00000100796	chromatin interactions
ENSG00000243335	chromatin interactions
RAB5A	miRNA target sites
KCNK1	miRNA target sites
SHCBP1	miRNA target sites
CDC25A	miRNA target sites
TP53INP1	miRNA target sites

Extended variants
information (count: 3978 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:3978 , 50 per page) page: 1 2 3 4 5 6 7 ... 80

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7789768	chr7:65938980-65938981	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs375028188	chr7:65939008-65939009	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs373363453	chr7:65939020-65939021	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs542526974	chr7:65939094-65939095	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs562230679	chr7:65939104-65939105	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs527914131	chr7:65939169-65939170	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs547665813	chr7:65939211-65939212	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs111379290	chr7:65939246-65939247	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs533466792	chr7:65939250-65939251	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs139744539	chr7:65939331-65939332	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs570078414	chr7:65939378-65939379	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs535832097	chr7:65939390-65939391	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs548489076	chr7:65939399-65939400	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs190979162	chr7:65939423-65939424	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs145282112	chr7:65939448-65939449	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs553697441	chr7:65939450-65939451	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs78668714	chr7:65939451-65939452	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
18	rs374136040	chr7:65939453-65939454	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs78825795	chr7:65939454-65939455	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs575668355	chr7:65939477-65939478	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs552087637	chr7:65939479-65939480	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs12698521	chr7:65939489-65939490	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs371232743	chr7:65939495-65939496	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs373330169	chr7:65939514-65939515	Weak transcription Strong transcription Enhancers	CpG island	1 gene(s)	Overlapped CNVs	n/a
25	rs367687110	chr7:65939531-65939532	Weak transcription Strong transcription Enhancers	CpG island	1 gene(s)	Overlapped CNVs	n/a
26	rs34363376	chr7:65939536-65939537	Weak transcription Strong transcription Enhancers	CpG island	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs541662712	chr7:65939558-65939559	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs570472325	chr7:65939574-65939575	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs35530602	chr7:65939584-65939585	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs370141911	chr7:65939589-65939590	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs564689431	chr7:65939599-65939600	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs533530310	chr7:65939600-65939601	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs550330147	chr7:65939627-65939628	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs539450615	chr7:65939648-65939649	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs10950040	chr7:65939649-65939650	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs549096152	chr7:65939657-65939658	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs149694229	chr7:65939661-65939662	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs557335925	chr7:65939670-65939671	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs535981516	chr7:65939680-65939681	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs547263370	chr7:65939712-65939713	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs183184753	chr7:65939713-65939714	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs145512327	chr7:65939752-65939753	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs555869037	chr7:65939784-65939785	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs113757957	chr7:65939791-65939792	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs535474379	chr7:65939803-65939804	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs370594528	chr7:65939804-65939805	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs114557140	chr7:65939805-65939806	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs571978459	chr7:65939875-65939876	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs148992094	chr7:65939885-65939886	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs558471886	chr7:65939888-65939889	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17170743	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Follicular lymphoma	20505157	CNVD
Biliary cancer	19435499	CNVD
Williams-beuren syndrome	22470819	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Hepatocellular carcinoma	16750200	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Glioblastoma	21080181	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Astrocytoma	22246337	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Acute monocytic leukemia	16498392	CNVD
Prostate cancer	16461572	CNVD
Salivary gland tumor	18059337	CNVD
Multiple myeloma	17550852	CNVD
Acute myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Cancer	20164920	CNVD
Pancreatic cancer	17952125	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:2374 , 50 per page) page: 1 2 3 4 5 6 7 ... 48

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:65879200-65939800	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr7:65879200-65946000	Weak transcription	NHEK	skin
3	chr7:65879200-65957600	Weak transcription	Psoas Muscle	Psoas
4	chr7:65889200-65939600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr7:65891600-65939000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr7:65894200-65939200	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr7:65904400-65939000	Weak transcription	Duodenum Mucosa	Duodenum
8	chr7:65905600-65957600	Weak transcription	Fetal Lung	lung
9	chr7:65906000-65940200	Weak transcription	Fetal Intestine Large	intestine
10	chr7:65910200-65940000	Weak transcription	Placenta	Placenta
11	chr7:65911400-65957800	Weak transcription	Aorta	Aorta
12	chr7:65912000-65944000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr7:65912600-65939000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr7:65913000-65946800	Weak transcription	Esophagus	oesophagus
15	chr7:65914000-65939200	Weak transcription	Primary T cells fromperipheralblood	blood
16	chr7:65914200-65939000	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr7:65915200-65939000	Weak transcription	Fetal Muscle Trunk	muscle
18	chr7:65915800-65954200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr7:65917000-65957800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr7:65917800-65939600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr7:65920600-65939600	Weak transcription	GM12878-XiMat	blood
22	chr7:65924800-65939000	Weak transcription	Stomach Smooth Muscle	stomach
23	chr7:65925000-65939000	Weak transcription	Brain Cingulate Gyrus	brain
24	chr7:65925000-65940400	Weak transcription	Brain Angular Gyrus	brain
25	chr7:65925000-65948400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr7:65925000-65957200	Weak transcription	Dnd41	blood
27	chr7:65925000-65957600	Weak transcription	Left Ventricle	heart
28	chr7:65925400-65939000	Weak transcription	Brain Anterior Caudate	brain
29	chr7:65925400-65939200	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr7:65925400-65955400	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr7:65925400-65957200	Weak transcription	Primary hematopoietic stem cells	blood
32	chr7:65926800-65940000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr7:65927200-65939000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr7:65927600-65950000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr7:65927600-65957600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr7:65927800-65939200	Weak transcription	K562	blood
37	chr7:65928800-65939000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr7:65929400-65939000	Weak transcription	Primary B cells from cord blood	blood
39	chr7:65929600-65939000	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr7:65931200-65957600	Weak transcription	Right Ventricle	heart
41	chr7:65931400-65957800	Weak transcription	Primary neutrophils fromperipheralblood	blood
42	chr7:65931800-65939800	Weak transcription	Primary B cells from peripheral blood	blood
43	chr7:65932400-65939800	Weak transcription	HepG2	liver
44	chr7:65932800-65940000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr7:65933200-65939000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr7:65934200-65939800	Weak transcription	Primary T helper cells fromperipheralblood	blood
47	chr7:65934600-65939200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr7:65934600-65942200	Weak transcription	Stomach Mucosa	stomach
49	chr7:65934600-65955200	Weak transcription	HMEC	breast
50	chr7:65935400-65939000	Weak transcription	Brain Substantia Nigra	brain

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