Variant report

Variant	nsv971284
Chromosome Location	chr8:10539307-10541013
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:28)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:28 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr8:10539300-10539450	HepG2	liver:	n/a	n/a
2	CTCF	chr8:10540020-10540170	GM12868	blood:	n/a	n/a
3	CTCF	chr8:10539460-10539610	NHEK	skin:	n/a	chr8:10539477-10539490
4	CTCF	chr8:10539220-10539370	HMEC	breast:	n/a	n/a
5	CTCF	chr8:10539361-10539426	Hela-S3	cervix:	n/a	n/a
6	CTCF	chr8:10539340-10539490	GM12873	blood:	n/a	chr8:10539477-10539490
7	CTCF	chr8:10539300-10539450	Hela-S3	cervix:	n/a	n/a
8	CTCF	chr8:10539340-10539490	HUVEC	blood vessel:	n/a	chr8:10539477-10539490
9	CTCF	chr8:10539350-10539429	MCF-7	breast:	n/a	n/a
10	CTCF	chr8:10539428-10539437	Hela-S3	cervix:	n/a	n/a
11	MAZ	chr8:10540694-10540702	Hela-S3	cervix:	n/a	n/a
12	MAZ	chr8:10540018-10540096	K562	blood:	n/a	n/a
13	MYC	chr8:10540824-10540832	NB4	blood:	n/a	n/a
14	NFYA	chr8:10539142-10539433	Hela-S3	cervix:	n/a	n/a
15	POLR2A	chr8:10539326-10539373	MCF-7	breast:	n/a	n/a
16	POLR2A	chr8:10539440-10539477	MCF-7	breast:	n/a	n/a
17	POLR2A	chr8:10539736-10540213	HL-60	blood:	n/a	n/a
18	POLR2A	chr8:10539382-10539392	MCF-7	breast:	n/a	n/a
19	POLR2A	chr8:10539089-10539314	MCF-7	breast:	n/a	n/a
20	POLR2A	chr8:10540330-10540419	HUVEC	blood vessel:	n/a	n/a
21	POLR2A	chr8:10539489-10539497	MCF-7	breast:	n/a	n/a
22	SMARCB1	chr8:10538005-10539526	Hela-S3	cervix:	n/a	n/a
23	SMARCC1	chr8:10538014-10539660	Hela-S3	cervix:	n/a	n/a
24	SPI1	chr8:10539895-10540139	K562	blood:	n/a	n/a
25	SPI1	chr8:10539756-10540240	HL-60	blood:	n/a	n/a
26	SPI1	chr8:10539861-10540074	GM12878	blood:	n/a	n/a
27	SPI1	chr8:10539839-10540201	HL-60	blood:	n/a	n/a
28	TCF7L2	chr8:10537996-10539397	Hela-S3	cervix:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:10537022..10539383-chr8:10695484..10697412,2	K562	blood:
2	chr8:10539212..10541927-chr8:10542466..10544181,2	K562	blood:
3	chr8:10539212..10540819-chr8:10542466..10545338,2	K562	blood:
4	chr8:10535340..10537589-chr8:10540581..10542267,2	K562	blood:

No data

Variant related genes	Relation type
RNA5SP252	TF binding region
ENSG00000212433	chromatin interactions
ENSG00000258724	chromatin interactions
ENSG00000254093	chromatin interactions

Extended variants
information (count: 108 )
Associated
traits (count: 138 )

Variant overlapped rSNPs/rCNVs (count:108 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs184722237	chr8:10539307-10539308	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs549930680	chr8:10539321-10539322	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs188058589	chr8:10539324-10539325	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs143563907	chr8:10539329-10539330	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs548718031	chr8:10539332-10539333	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs555351659	chr8:10539343-10539344	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs565630049	chr8:10539344-10539345	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs35793804	chr8:10539352-10539353	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs554083822	chr8:10539359-10539360	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs577116651	chr8:10539366-10539367	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs539671115	chr8:10539376-10539377	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs114441426	chr8:10539387-10539388	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs373676687	chr8:10539391-10539392	Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs112013180	chr8:10539412-10539413	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs59080221	chr8:10539441-10539442	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs114866773	chr8:10539477-10539478	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs541436416	chr8:10539510-10539511	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs564403300	chr8:10539516-10539517	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs367819756	chr8:10539607-10539608	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs533249571	chr8:10539631-10539632	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs556897025	chr8:10539643-10539644	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs549725236	chr8:10539674-10539675	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs192244020	chr8:10539680-10539681	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs11989988	chr8:10539684-10539685	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs549022260	chr8:10539695-10539696	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs559976715	chr8:10539715-10539716	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs148657097	chr8:10539740-10539741	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs528120600	chr8:10539746-10539747	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs550938985	chr8:10539767-10539768	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs570842076	chr8:10539793-10539794	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs539707868	chr8:10539803-10539804	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs556498580	chr8:10539825-10539826	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs570194966	chr8:10539830-10539831	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs372131037	chr8:10539915-10539916	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs535665355	chr8:10539921-10539922	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs375487240	chr8:10539926-10539927	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs555878529	chr8:10539949-10539950	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs142175575	chr8:10539956-10539957	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs185833861	chr8:10539960-10539961	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs558150081	chr8:10539967-10539968	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs578016372	chr8:10539999-10540000	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs553166337	chr8:10540037-10540038	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs573343223	chr8:10540052-10540053	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs189181278	chr8:10540130-10540131	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs529127001	chr8:10540141-10540142	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs151211571	chr8:10540160-10540161	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs371458102	chr8:10540175-10540176	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs542541318	chr8:10540187-10540188	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs559048387	chr8:10540196-10540197	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs77419999	chr8:10540199-10540200	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:138)

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
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
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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Gastric cancer	21811585	CNVD
Colorectal cancer	16774939	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10536200-10540600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr8:10536800-10541800	Enhancers	Spleen	Spleen
3	chr8:10537000-10542000	Enhancers	Esophagus	oesophagus
4	chr8:10537600-10539400	Enhancers	HUVEC	blood vessel
5	chr8:10537600-10539600	Enhancers	Gastric	stomach
6	chr8:10538000-10539400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr8:10538000-10539400	Enhancers	HMEC	breast
8	chr8:10538000-10539600	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr8:10538000-10539800	Enhancers	Lung	lung
10	chr8:10538200-10540200	Enhancers	Pancreas	Pancrea
11	chr8:10539000-10539400	Bivalent Enhancer	Right Ventricle	heart
12	chr8:10539000-10542800	Weak transcription	Liver	Liver
13	chr8:10539200-10539400	Enhancers	Stomach Mucosa	stomach
14	chr8:10539200-10539600	Enhancers	A549	lung
15	chr8:10539200-10540200	Enhancers	Hela-S3	cervix
16	chr8:10539400-10540400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr8:10539400-10541400	Weak transcription	HUVEC	blood vessel
18	chr8:10540200-10541400	Weak transcription	Pancreas	Pancrea
19	chr8:10540400-10541000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr8:10540800-10541600	Enhancers	Lung	lung
21	chr8:10541000-10547400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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