Variant report

Variant	nsv519058
Chromosome Location	chr7:8094604-8115794
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	ARID3A	chr7:8096113-8096396	K562	blood:	n/a	n/a
2	ATF3	chr7:8096037-8096421	K562	blood:	n/a	n/a
3	BACH1	chr7:8105292-8105498	H1-hESC	embryonic stem cell:	n/a	n/a
4	CEBPB	chr7:8096170-8096368	HepG2	liver:	n/a	chr7:8096272-8096283
5	CEBPB	chr7:8111995-8112448	MCF-7	breast:	n/a	n/a
6	CEBPB	chr7:8095905-8096464	IMR90	lung:	n/a	chr7:8096272-8096283
7	CEBPB	chr7:8113260-8113751	MCF-7	breast:	n/a	chr7:8113554-8113565 chr7:8113553-8113566
8	CEBPB	chr7:8095936-8096443	K562	blood:	n/a	chr7:8096272-8096283
9	CEBPB	chr7:8096116-8096353	K562	blood:	n/a	chr7:8096272-8096283
10	CEBPB	chr7:8113288-8113737	K562	blood:	n/a	chr7:8113554-8113565 chr7:8113553-8113566
11	CEBPB	chr7:8104854-8105442	IMR90	lung:	n/a	n/a
12	CEBPB	chr7:8095867-8096501	K562	blood:	n/a	chr7:8096272-8096283
13	CEBPB	chr7:8113367-8113662	Hela-S3	cervix:	n/a	chr7:8113554-8113565 chr7:8113553-8113566
14	CEBPB	chr7:8113226-8113716	IMR90	lung:	n/a	chr7:8113554-8113565 chr7:8113553-8113566
15	CEBPB	chr7:8113365-8113711	MCF-7	breast:	n/a	chr7:8113554-8113565 chr7:8113553-8113566
16	CEBPB	chr7:8100616-8100701	HepG2	liver:	n/a	n/a
17	CEBPB	chr7:8113276-8113690	HepG2	liver:	n/a	chr7:8113554-8113565 chr7:8113553-8113566
18	CEBPB	chr7:8095902-8096468	Hela-S3	cervix:	n/a	chr7:8096272-8096283
19	CEBPB	chr7:8096153-8096407	H1-hESC	embryonic stem cell:	n/a	chr7:8096272-8096283
20	CTCF	chr7:8109200-8109204	H1-hESC	embryonic stem cell:	n/a	n/a
21	CTCF	chr7:8114250-8114252	MCF-7	breast:	n/a	n/a
22	CTCF	chr7:8114228-8114247	MCF-7	breast:	n/a	n/a
23	CTCF	chr7:8114254-8114257	MCF-7	breast:	n/a	n/a
24	CTCF	chr7:8108999-8109237	H1-hESC	embryonic stem cell:	n/a	n/a
25	CTCF	chr7:8109096-8109199	MCF-7	breast:	n/a	n/a
26	CTCF	chr7:8106725-8106784	LNCaP	prostate:	n/a	n/a
27	CTCF	chr7:8109076-8109198	H1-hESC	embryonic stem cell:	n/a	n/a
28	CTCF	chr7:8106080-8106230	HMF	breast:	n/a	n/a
29	EP300	chr7:8096087-8096485	K562	blood:	n/a	n/a
30	EP300	chr7:8097772-8098644	SK-N-SH	brain:	n/a	n/a
31	EP300	chr7:8104352-8105681	SK-N-SH	brain:	n/a	n/a
32	FOS	chr7:8103405-8103599	MCF10A-Er-Src	breast:	n/a	n/a
33	FOS	chr7:8098450-8098888	HUVEC	blood vessel:	n/a	chr7:8098633-8098644
34	FOS	chr7:8103537-8103693	MCF10A-Er-Src	breast:	n/a	n/a
35	FOSL2	chr7:8104396-8105697	SK-N-SH	brain:	n/a	n/a
36	GATA3	chr7:8102794-8103456	SK-N-SH	brain:	n/a	n/a
37	GATA3	chr7:8104332-8105807	SK-N-SH	brain:	n/a	n/a
38	GATA3	chr7:8096937-8096941	SH-SY5Y	brain:	n/a	n/a
39	GATA3	chr7:8113426-8113595	SH-SY5Y	brain:	n/a	n/a
40	GATA3	chr7:8113123-8113839	MCF-7	breast:	n/a	chr7:8113406-8113417 chr7:8113628-8113639
41	GATA3	chr7:8104336-8105844	SK-N-SH	brain:	n/a	n/a
42	GATA3	chr7:8097545-8098285	SH-SY5Y	brain:	n/a	n/a
43	IRF1	chr7:8097704-8097717	K562	blood:	n/a	n/a
44	IRF1	chr7:8097018-8097136	K562	blood:	n/a	n/a
45	IRF3	chr7:8108504-8108559	GM12878	blood:	n/a	n/a
46	JUND	chr7:8096118-8096392	K562	blood:	n/a	n/a
47	JUND	chr7:8104353-8105624	SK-N-SH	brain:	n/a	n/a
48	JUND	chr7:8104372-8105787	SK-N-SH	brain:	n/a	n/a
49	MAFK	chr7:8101624-8101829	HepG2	liver:	n/a	chr7:8101694-8101705 chr7:8101693-8101707 chr7:8101694-8101705
50	MAFK	chr7:8105363-8105545	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:8007674..8009181-chr7:8097178..8098947,2	K562	blood:
2	chr7:8106017..8108332-chr7:8110111..8112350,2	K562	blood:
3	chr7:8115260..8117059-chr7:8119231..8121159,2	K562	blood:
4	chr7:8106017..8108332-chr7:8110111..8112350,2	K562	blood:
5	chr7:8100196..8102661-chr7:8110334..8112577,2	K562	blood:
6	chr7:8114373..8116452-chr7:8303024..8304587,2	K562	blood:
7	chr7:8115330..8116854-chr7:8119864..8121501,2	K562	blood:
8	chr7:8084954..8087365-chr7:8096872..8098422,2	K562	blood:
9	chr7:8100196..8102661-chr7:8110334..8112577,2	K562	blood:

Variant related genes	Relation type
GLCCI1	TF binding region
ENSG00000106415	chromatin interactions

Extended variants
information (count: 944 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:944 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17142477	chr7:8094604-8094605	Weak transcription Strong transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs542189418	chr7:8094606-8094607	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs569659542	chr7:8094632-8094633	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs536667219	chr7:8094641-8094642	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs548829324	chr7:8094643-8094644	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs186745039	chr7:8094690-8094691	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs534466428	chr7:8094721-8094722	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs553182002	chr7:8094722-8094723	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs191594091	chr7:8094740-8094741	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs539956506	chr7:8094767-8094768	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs76000212	chr7:8094839-8094840	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs546411279	chr7:8094850-8094851	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs184150609	chr7:8094897-8094898	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs186983544	chr7:8094908-8094909	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs540467068	chr7:8094980-8094981	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs564750794	chr7:8095040-8095041	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs574432189	chr7:8095043-8095044	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs201859219	chr7:8095045-8095046	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs372266347	chr7:8095046-8095047	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs201112840	chr7:8095055-8095056	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs377759364	chr7:8095065-8095066	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs532862607	chr7:8095073-8095074	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs371245861	chr7:8095141-8095142	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs551425718	chr7:8095183-8095184	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs367562767	chr7:8095192-8095193	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs200480749	chr7:8095203-8095204	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs372255402	chr7:8095223-8095224	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs199506789	chr7:8095224-8095225	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs567222315	chr7:8095270-8095271	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs570473636	chr7:8095284-8095285	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs563579501	chr7:8095319-8095320	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs77262223	chr7:8095357-8095358	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs538480314	chr7:8095378-8095379	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs558198635	chr7:8095395-8095396	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs575571379	chr7:8095442-8095443	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs576612496	chr7:8095449-8095450	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs192928287	chr7:8095467-8095468	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs111677347	chr7:8095483-8095484	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs7805751	chr7:8095486-8095487	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs546237681	chr7:8095496-8095497	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs111297008	chr7:8095498-8095499	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs578096367	chr7:8095512-8095513	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs185029503	chr7:8095516-8095517	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs563351197	chr7:8095529-8095530	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs530568170	chr7:8095536-8095537	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs548562129	chr7:8095539-8095540	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs560587313	chr7:8095540-8095541	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs528348750	chr7:8095578-8095579	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs546846370	chr7:8095589-8095590	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs190319071	chr7:8095592-8095593	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

Disease	PMID	Source
Ovarian cancer	21720365	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Ovarian cancer	22174824	CNVD
Urothelial carcinoma	18382360	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	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
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Acute myeloid leukemia	21251322	CNVD
Melanoma	17363583	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Hirschsprung''s Disease	21712996	CNVD
Glioblastoma multiforme	22286061	CNVD
Non-small cell lung cancer	21829676	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Kartagener syndrome	16639409	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Medulloblastoma	17653508	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	19242612	CNVD
Autism	18414403	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21858162	CNVD
Williams Syndrome	20824207	CNVD
Breast cancer	22522925	CNVD
Renal cell carcinoma	18194544	CNVD
Prostate cancer	22341455	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:613 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:8041600-8095000	Weak transcription	Gastric	stomach
2	chr7:8043000-8099200	Weak transcription	Colon Smooth Muscle	Colon
3	chr7:8047600-8108200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr7:8064400-8096200	Weak transcription	NHLF	lung
5	chr7:8065000-8095000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr7:8065000-8108600	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr7:8066400-8096600	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr7:8066400-8127600	Weak transcription	Rectal Smooth Muscle	rectum
9	chr7:8066600-8099800	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr7:8066600-8126000	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr7:8066800-8095000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr7:8066800-8095600	Weak transcription	Duodenum Mucosa	Duodenum
13	chr7:8066800-8099800	Weak transcription	Brain Anterior Caudate	brain
14	chr7:8066800-8108600	Weak transcription	Brain Cingulate Gyrus	brain
15	chr7:8067000-8135400	Weak transcription	Pancreas	Pancrea
16	chr7:8067200-8095600	Weak transcription	Fetal Lung	lung
17	chr7:8067600-8095800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr7:8068000-8095600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr7:8069800-8095800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr7:8075000-8108600	Weak transcription	Psoas Muscle	Psoas
21	chr7:8075000-8125800	Weak transcription	Lung	lung
22	chr7:8075000-8126800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr7:8075600-8095000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr7:8075600-8095000	Weak transcription	Aorta	Aorta
25	chr7:8075600-8095000	Weak transcription	Ovary	ovary
26	chr7:8075600-8095200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr7:8075600-8101400	Weak transcription	K562	blood
28	chr7:8075600-8104400	Weak transcription	HMEC	breast
29	chr7:8075600-8105000	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr7:8075600-8113000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr7:8075600-8131800	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr7:8075800-8095200	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr7:8075800-8095400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr7:8076000-8095000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr7:8076000-8095000	Weak transcription	Fetal Intestine Large	intestine
36	chr7:8076000-8111800	Weak transcription	Fetal Brain Male	brain
37	chr7:8076000-8124200	Weak transcription	Fetal Kidney	kidney
38	chr7:8076200-8102200	Weak transcription	Fetal Brain Female	brain
39	chr7:8076200-8108400	Weak transcription	Brain Angular Gyrus	brain
40	chr7:8076800-8095600	Weak transcription	Primary hematopoietic stem cells	blood
41	chr7:8077000-8095000	Weak transcription	Adipose Nuclei	Adipose
42	chr7:8077000-8095000	Weak transcription	Fetal Muscle Leg	muscle
43	chr7:8077200-8095000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr7:8077200-8095000	Weak transcription	Brain Hippocampus Middle	brain
45	chr7:8077200-8095000	Weak transcription	Left Ventricle	heart
46	chr7:8077200-8096600	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr7:8077200-8103200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr7:8077200-8106800	Weak transcription	Fetal Heart	heart
49	chr7:8077400-8095000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr7:8077400-8095600	Weak transcription	Liver	Liver

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