Variant report

Variant	nsv608377
Chromosome Location	chr7:126478190-126512514
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr7:126489638-126489672	K562	blood:	n/a	n/a
2	ATF1	chr7:126509086-126509186	K562	blood:	n/a	n/a
3	BHLHE40	chr7:126496848-126496879	HepG2	liver:	n/a	n/a
4	CTCF	chr7:126496820-126496970	SAEC	small airway:	n/a	chr7:126496914-126496932 chr7:126496916-126496937
5	CTCF	chr7:126496820-126496970	HBMEC	blood vessel:	n/a	chr7:126496914-126496932 chr7:126496916-126496937
6	CTCF	chr7:126496840-126496990	HepG2	liver:	n/a	chr7:126496914-126496932 chr7:126496916-126496937
7	CTCF	chr7:126496819-126496976	A549	lung:	n/a	chr7:126496914-126496932 chr7:126496916-126496937
8	CTCF	chr7:126489148-126489242	GM10248	blood:	n/a	n/a
9	CTCF	chr7:126496743-126497079	HepG2	liver:	n/a	chr7:126496914-126496932 chr7:126496916-126496937
10	CTCF	chr7:126496581-126497285	SK-N-SH	brain:	n/a	chr7:126496914-126496932 chr7:126496916-126496937
11	CTCF	chr7:126496820-126496970	GM12871	blood:	n/a	chr7:126496914-126496932 chr7:126496916-126496937
12	CTCF	chr7:126496820-126496970	HA-sp	spinal cord:	n/a	chr7:126496914-126496932 chr7:126496916-126496937
13	CTCF	chr7:126496860-126497010	AG04449	skin:	n/a	chr7:126496914-126496932 chr7:126496916-126496937
14	CTCF	chr7:126497200-126497350	GM12872	blood:	n/a	n/a
15	CTCF	chr7:126496840-126496990	AG04449	skin:	n/a	chr7:126496914-126496932 chr7:126496916-126496937
16	CTCF	chr7:126496840-126496990	GM12865	blood:	n/a	chr7:126496914-126496932 chr7:126496916-126496937
17	CTCF	chr7:126496820-126496970	GM12801	blood:	n/a	chr7:126496914-126496932 chr7:126496916-126496937
18	CTCF	chr7:126496840-126496990	RPTEC	kidney:	n/a	chr7:126496914-126496932 chr7:126496916-126496937
19	CTCF	chr7:126496820-126496970	RPTEC	kidney:	n/a	chr7:126496914-126496932 chr7:126496916-126496937
20	CTCF	chr7:126496860-126497010	NHLF	lung:	n/a	chr7:126496914-126496932 chr7:126496916-126496937
21	CTCF	chr7:126496820-126496970	GM12867	blood:	n/a	chr7:126496914-126496932 chr7:126496916-126496937
22	CTCF	chr7:126496860-126497010	GM12871	blood:	n/a	chr7:126496914-126496932 chr7:126496916-126496937
23	CTCF	chr7:126496840-126496990	GM12864	blood:	n/a	chr7:126496914-126496932 chr7:126496916-126496937
24	CTCF	chr7:126496840-126496990	HRPEpiC	eye:	n/a	chr7:126496914-126496932 chr7:126496916-126496937
25	CTCF	chr7:126496792-126497084	ECC-1	luminal epithelium:	n/a	chr7:126496914-126496932 chr7:126496916-126496937
26	CTCF	chr7:126496840-126496990	GM12869	blood:	n/a	chr7:126496914-126496932 chr7:126496916-126496937
27	CTCF	chr7:126496820-126496970	AoAF	blood vessel:	n/a	chr7:126496914-126496932 chr7:126496916-126496937
28	CTCF	chr7:126496789-126497043	Hela-S3	cervix:	n/a	chr7:126496914-126496932 chr7:126496916-126496937
29	CTCF	chr7:126496672-126497157	MCF-7	breast:	n/a	chr7:126496914-126496932 chr7:126496916-126496937
30	CTCF	chr7:126495071-126495092	LNCaP	prostate:	n/a	n/a
31	CTCF	chr7:126496825-126496995	GM20000	blood:	n/a	chr7:126496914-126496932 chr7:126496916-126496937
32	CTCF	chr7:126496800-126496950	HEK293	kidney:	n/a	chr7:126496914-126496932 chr7:126496916-126496937
33	CTCF	chr7:126496860-126497010	HCT-116	colon:	n/a	chr7:126496914-126496932 chr7:126496916-126496937
34	CTCF	chr7:126496840-126496990	K562	blood:	n/a	chr7:126496914-126496932 chr7:126496916-126496937
35	CTCF	chr7:126496960-126497110	A549	lung:	n/a	n/a
36	CTCF	chr7:126496889-126496973	NHEK	skin:	n/a	chr7:126496914-126496932 chr7:126496916-126496937
37	CTCF	chr7:126496980-126497130	HAc	cerebellar:	n/a	n/a
38	CTCF	chr7:126496725-126496999	A549	lung:	n/a	chr7:126496914-126496932 chr7:126496916-126496937
39	CTCF	chr7:126496860-126497010	K562	blood:	n/a	chr7:126496914-126496932 chr7:126496916-126496937
40	CTCF	chr7:126496840-126496990	SK-N-SH_RA	brain:	n/a	chr7:126496914-126496932 chr7:126496916-126496937
41	CTCF	chr7:126496880-126497030	GM12873	blood:	n/a	chr7:126496914-126496932 chr7:126496916-126496937
42	CTCF	chr7:126496840-126496990	HEK293	kidney:	n/a	chr7:126496914-126496932 chr7:126496916-126496937
43	CTCF	chr7:126496880-126497030	GM12878	blood:	n/a	chr7:126496914-126496932 chr7:126496916-126496937
44	CTCF	chr7:126496820-126496970	GM12872	blood:	n/a	chr7:126496914-126496932 chr7:126496916-126496937
45	CTCF	chr7:126496771-126497046	Medullo	brain:	n/a	chr7:126496914-126496932 chr7:126496916-126496937
46	CTCF	chr7:126496860-126497010	BE2_C	brain:	n/a	chr7:126496914-126496932 chr7:126496916-126496937
47	CTCF	chr7:126496883-126496979	MCF-7	breast:	n/a	chr7:126496914-126496932 chr7:126496916-126496937
48	CTCF	chr7:126496793-126497048	LNCaP	prostate:	n/a	chr7:126496914-126496932 chr7:126496916-126496937
49	CTCF	chr7:126496860-126497010	HAc	cerebellar:	n/a	chr7:126496914-126496932 chr7:126496916-126496937
50	CTCF	chr7:126496820-126496970	SK-N-SH_RA	brain:	n/a	chr7:126496914-126496932 chr7:126496916-126496937

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:126492682..126494185-chr7:126494985..126497035,2	K562	blood:
2	chr7:126483492..126485257-chr7:126496192..126497874,2	K562	blood:
3	chr7:126483492..126485257-chr7:126496192..126497874,2	K562	blood:
4	7:126477235-126483531..7:127070190-127076279	Hela-S3	cervix:
5	7:126477235-126483531..7:126746034-126750148	H1-hESC	embryonic stem cell:	embryo
6	chr7:126477944..126479476-chr7:126481551..126483101,2	K562	blood:
7	7:126477235-126483531..7:126890676-126899918	H1-hESC	embryonic stem cell:	embryo
8	chr7:126492682..126494185-chr7:126494985..126497035,2	K562	blood:
9	7:126085913-126088095..7:126492401-126497300	GM12878	blood:
10	chr7:126496786..126498746-chr7:126500529..126502173,2	MCF-7	breast:
11	chr7:126496786..126498746-chr7:126500529..126502173,2	MCF-7	breast:
12	chr7:126477944..126479476-chr7:126481551..126483101,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF800-7	chr7:126508821-126510586	NONHSAT123122

Variant related genes	Relation type
ENSG00000224981	TF binding region
ENSG00000048405	chromatin interactions
ENSG00000179603	chromatin interactions

Extended variants
information (count: 660 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:660 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2283076	chr7:126478190-126478191	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs572206600	chr7:126478206-126478207	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs536312298	chr7:126478259-126478260	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs554290070	chr7:126478308-126478309	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs2283077	chr7:126478351-126478352	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs565656278	chr7:126478364-126478365	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs28417454	chr7:126478445-126478446	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs558885433	chr7:126478461-126478462	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs529712594	chr7:126478466-126478467	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs148841964	chr7:126478478-126478479	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs187027112	chr7:126478480-126478481	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs548633467	chr7:126478536-126478537	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs143451938	chr7:126478546-126478547	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs557759961	chr7:126478582-126478583	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs530977533	chr7:126478658-126478659	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs191895191	chr7:126478673-126478674	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs571191744	chr7:126478736-126478737	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs115888043	chr7:126478751-126478752	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs147503357	chr7:126478769-126478770	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs141814236	chr7:126478820-126478821	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs12673858	chr7:126478849-126478850	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs535968081	chr7:126478880-126478881	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs183324182	chr7:126478923-126478924	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs2283078	chr7:126478930-126478931	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs576047013	chr7:126478963-126478964	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs537094913	chr7:126478964-126478965	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs150163754	chr7:126478972-126478973	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs138861153	chr7:126478975-126478976	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs368665394	chr7:126478976-126478977	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs187078825	chr7:126479023-126479024	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs190245756	chr7:126479085-126479086	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs182458058	chr7:126479112-126479113	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs116504169	chr7:126479152-126479153	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs563855132	chr7:126479175-126479176	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs530890410	chr7:126479176-126479177	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs929175	chr7:126479218-126479219	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs916613	chr7:126479227-126479228	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs528818326	chr7:126479237-126479238	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs542489847	chr7:126479246-126479247	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs568570650	chr7:126479357-126479358	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs559419466	chr7:126479384-126479385	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs547333414	chr7:126479393-126479394	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs529532238	chr7:126479410-126479411	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs550891481	chr7:126479411-126479412	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs207468589	chr7:126479429-126479430	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs569759396	chr7:126479431-126479432	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs536731929	chr7:126479460-126479461	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs372043384	chr7:126479514-126479515	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs573105785	chr7:126479527-126479528	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs558144216	chr7:126479536-126479537	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:94)

Disease	PMID	Source
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
Medulloblastoma	21979893	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
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	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
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
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Biliary cancer	19435499	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	23792589	CNVD
Adenocarcinoma	21044232	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Non-small cell lung cancer	19889201	CNVD
Acute myeloid leukemia	18000384	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Metastatic melanoma	18483359	CNVD
Autism	18414403	CNVD
Autism	19401682	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Melanoma	19188590	CNVD
Hepatocellular carcinoma	16785998	CNVD
Glioblastoma multiforme	18628472	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21509527	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Squamous cell cancer	20885788	CNVD
Myelofibrosis	22110671	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Autism	20808228	CNVD
Cancer	20164919	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Prostate cancer	22341455	CNVD
Attention deficit hyperactivity disorder	22138692	CNVD

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:126482600-126484400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr7:126483000-126484200	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr7:126484400-126487200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr7:126485200-126486000	Enhancers	HUVEC	blood vessel
5	chr7:126487200-126488400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr7:126492000-126492200	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr7:126492200-126493200	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr7:126493200-126495000	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr7:126493800-126494200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr7:126494200-126496600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr7:126495800-126496000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr7:126496600-126497000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr7:126496600-126497400	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr7:126496600-126497400	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr7:126496600-126497400	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr7:126496800-126497400	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr7:126496800-126498600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr7:126497000-126497400	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr7:126497000-126497400	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr7:126497000-126497400	Enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr7:126497000-126497800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
22	chr7:126497400-126498400	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr7:126497400-126498600	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr7:126497400-126498600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr7:126497400-126498600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr7:126498600-126498800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr7:126498600-126498800	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr7:126498800-126499000	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr7:126498800-126499000	Enhancers	iPS-15b Cell Line	embryonic stem cell
30	chr7:126498800-126499000	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr7:126508200-126508400	Enhancers	Pancreas	Pancrea

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