Variant report

Variant	nsv824529
Chromosome Location	chr8:8996139-8996926
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	ATF2	chr8:8996223-8996575	GM12878	blood:	n/a	n/a
2	ATF2	chr8:8996017-8996707	GM12878	blood:	n/a	n/a
3	BATF	chr8:8996278-8996547	GM12878	blood:	n/a	n/a
4	BATF	chr8:8996307-8996481	GM12878	blood:	n/a	n/a
5	CREB1	chr8:8996306-8996550	GM12878	blood:	n/a	n/a
6	ELF1	chr8:8996406-8996747	GM12878	blood:	n/a	n/a
7	FOXM1	chr8:8995843-8996587	GM12878	blood:	n/a	n/a
8	MTA3	chr8:8995774-8996579	GM12878	blood:	n/a	n/a
9	NFIC	chr8:8995842-8996646	GM12878	blood:	n/a	n/a
10	NFIC	chr8:8995954-8996587	GM12878	blood:	n/a	n/a
11	POLR2A	chr8:8995801-8996215	GM12878	blood:	n/a	n/a
12	POLR2A	chr8:8995912-8996265	MCF10A-Er-Src	breast:	n/a	n/a
13	POLR2A	chr8:8992645-8997055	K562	blood:	n/a	n/a
14	POLR2A	chr8:8991597-8999830	HUVEC	blood vessel:	n/a	n/a
15	RUNX3	chr8:8995844-8996588	GM12878	blood:	n/a	n/a
16	RUNX3	chr8:8995747-8996584	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000254340	TF binding region

Extended variants
information (count: 39 )
Associated
traits (count: 135 )

Variant overlapped rSNPs/rCNVs (count:39 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs116475566	chr8:8996158-8996159	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs186755985	chr8:8996198-8996199	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs558076825	chr8:8996210-8996211	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs137922958	chr8:8996211-8996212	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs149458764	chr8:8996212-8996213	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs143851762	chr8:8996236-8996237	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs330911	chr8:8996273-8996274	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs330912	chr8:8996294-8996295	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs548505854	chr8:8996306-8996307	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs11777327	chr8:8996329-8996330	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs193092593	chr8:8996379-8996380	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs148178016	chr8:8996384-8996385	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs35973937	chr8:8996418-8996419	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs398095592	chr8:8996419-8996420	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs201367726	chr8:8996425-8996426	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs185844617	chr8:8996430-8996431	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs567974617	chr8:8996432-8996433	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs530270377	chr8:8996441-8996442	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs549824199	chr8:8996447-8996448	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs569781539	chr8:8996467-8996468	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs535635742	chr8:8996468-8996469	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs330913	chr8:8996490-8996491	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs572321198	chr8:8996516-8996517	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs534192628	chr8:8996546-8996547	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs553847034	chr8:8996549-8996550	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs577290794	chr8:8996554-8996555	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs546009201	chr8:8996609-8996610	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs566648463	chr8:8996665-8996666	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs556109502	chr8:8996668-8996669	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs330914	chr8:8996695-8996696	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs576272563	chr8:8996749-8996750	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs7459730	chr8:8996760-8996761	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs562049408	chr8:8996786-8996787	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs150675885	chr8:8996791-8996792	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs547389785	chr8:8996798-8996799	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs189828937	chr8:8996808-8996809	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs193157141	chr8:8996822-8996823	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs73197773	chr8:8996906-8996907	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs140935115	chr8:8996924-8996925	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:135)

Disease	PMID	Source
Crohn''s disease	19220326	CNVD
Psoriasis	19220326	CNVD
Prostate cancer	21965145	CNVD
Prostate cancer	18515986	CNVD
Chronic obstructive pulmonary disease	20378733	CNVD
Autism	18414403	CNVD
Cancer	21183584	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Breast cancer	17603634	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Ovarian cancer	20844748	CNVD
Cervical cancer	17311676	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Schizophrenia	20877625	CNVD
Disorders of sex development	21048976	CNVD
Colorectal cancer	16272173	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Breast cancer	17001317	CNVD
Thyroid cancer	19087340	CNVD
Multiple myeloma	16616336	CNVD
Hepatocellular carcinoma	22174799	CNVD
Heart disease	21282601	CNVD
Prostate cancer	16573809	CNVD
T-cell lymphomas	19863542	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	21297112	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Breast cancer	17393978	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
Oral cancer	21386901	CNVD
Prostate cancer	21088497	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
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
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
Acute lymphoblastic leukemia	21248843	CNVD
Breast cancer	21785460	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21509527	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute myeloid leukemia	21251322	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Congenital diaphragmatic hernia	21064195	CNVD
Autism	22495311	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16608533	CNVD
Seminomas	18059402	CNVD
Lung cancer	18438408	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Medulloblastoma	16783165	CNVD
Gastric cancer	18160780	CNVD
Breast cancer	21990379	CNVD
Psoriasis	20403174	CNVD
Psoriasis	20663923	CNVD
Crohn''s disease	16909382	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Crohn''s disease	20877625	CNVD
Inflammatory disorder	20877625	CNVD
Cardiac defect	21933911	CNVD
Psoriasis	18059266	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Psoriasis	20877625	CNVD
Mental retardation	17847001	CNVD
Prostate cancer	17217626	CNVD
Schizophrenia	21399695	CNVD
Colorectal cancer	21128281	CNVD
Colorectal cancer	19455253	CNVD
Psoriasis	18848619	CNVD
Squamous cell cancer	19047905	CNVD
Colorectal cancer	17229543	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Bladder cancer	21909424	CNVD
Myxofibrosarcoma	16751306	CNVD
Immune disease	21572526	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Kallmann Syndrome 2	22470819	CNVD
Developmental disorder	20461109	CNVD
abnormal development	18461090	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Glioblastoma multiforme	21138945	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:153 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:8987800-8997400	Weak transcription	Spleen	Spleen
2	chr8:8989200-8997400	Weak transcription	Gastric	stomach
3	chr8:8989600-8996800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr8:8990400-8997600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr8:8992600-9000000	Weak transcription	Hela-S3	cervix
6	chr8:8993400-8996200	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr8:8993400-8997200	Weak transcription	Esophagus	oesophagus
8	chr8:8993400-8997400	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr8:8993400-8997800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr8:8993600-8996400	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr8:8993600-9005400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr8:8993800-8997400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr8:8993800-8997600	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr8:8993800-8997600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr8:8993800-8997600	Weak transcription	HMEC	breast
16	chr8:8993800-8998400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr8:8993800-8998600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr8:8993800-9007400	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr8:8994000-8996200	Weak transcription	Primary T cells from cord blood	blood
20	chr8:8994000-8997200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr8:8994000-8997600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr8:8994000-8997600	Weak transcription	Brain Substantia Nigra	brain
23	chr8:8994000-8997600	Weak transcription	Thymus	Thymus
24	chr8:8994000-8997800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr8:8994000-8997800	Weak transcription	Brain Hippocampus Middle	brain
26	chr8:8994200-8996600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr8:8994200-8996600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr8:8994200-8996800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr8:8994200-8996800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr8:8994200-8996800	Weak transcription	NHLF	lung
31	chr8:8994200-8997200	Weak transcription	Ovary	ovary
32	chr8:8994200-8997400	Weak transcription	Primary B cells from cord blood	blood
33	chr8:8994200-8997400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr8:8994200-8997400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr8:8994200-8997400	Weak transcription	Colonic Mucosa	Colon
36	chr8:8994200-8997400	Weak transcription	Fetal Thymus	thymus
37	chr8:8994200-8997400	Weak transcription	K562	blood
38	chr8:8994200-8997400	Weak transcription	NH-A	brain
39	chr8:8994200-8997600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr8:8994200-8997600	Weak transcription	Fetal Kidney	kidney
41	chr8:8994200-8997600	Weak transcription	Pancreatic Islets	Pancreatic Islet
42	chr8:8994200-8997600	Weak transcription	Pancreas	Pancrea
43	chr8:8994200-8997800	Weak transcription	A549	lung
44	chr8:8994200-9000800	Strong transcription	Primary neutrophils fromperipheralblood	blood
45	chr8:8994200-9005600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
46	chr8:8994200-9007200	Weak transcription	Brain Angular Gyrus	brain
47	chr8:8994200-9007200	Weak transcription	Brain Cingulate Gyrus	brain
48	chr8:8994200-9007200	Weak transcription	Fetal Brain Male	brain
49	chr8:8994400-8996200	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr8:8994400-8996600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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