Variant report

Variant	nsv526262
Chromosome Location	chr8:9133798-9151237
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:34)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:34 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr8:9136801-9136931	H1-hESC	embryonic stem cell:	n/a	n/a
2	BACH1	chr8:9143712-9144014	H1-hESC	embryonic stem cell:	n/a	n/a
3	BACH1	chr8:9143731-9144006	K562	blood:	n/a	n/a
4	CCNT2	chr8:9149242-9149598	K562	blood:	n/a	n/a
5	CEBPB	chr8:9150011-9150019	HepG2	liver:	n/a	n/a
6	CTCF	chr8:9144616-9144705	GM10248	blood:	n/a	n/a
7	CTCF	chr8:9147723-9147781	GM10248	blood:	n/a	n/a
8	CTCF	chr8:9142840-9142990	HRPEpiC	eye:	n/a	n/a
9	CTCF	chr8:9139500-9139650	NHLF	lung:	n/a	chr8:9139517-9139530
10	EP300	chr8:9133945-9134025	K562	blood:	n/a	n/a
11	FOS	chr8:9143827-9144093	MCF10A-Er-Src	breast:	n/a	n/a
12	FOS	chr8:9143779-9144108	MCF10A-Er-Src	breast:	n/a	n/a
13	FOS	chr8:9143880-9144106	MCF10A-Er-Src	breast:	n/a	n/a
14	GATA2	chr8:9149293-9149529	K562	blood:	n/a	n/a
15	IRF1	chr8:9136406-9136408	K562	blood:	n/a	n/a
16	JUND	chr8:9143694-9144110	K562	blood:	n/a	n/a
17	MAFF	chr8:9143650-9144048	K562	blood:	n/a	n/a
18	MAFK	chr8:9143751-9143990	H1-hESC	embryonic stem cell:	n/a	n/a
19	MAFK	chr8:9143674-9144052	K562	blood:	n/a	n/a
20	MYC	chr8:9143421-9143453	MCF10A-Er-Src	breast:	n/a	n/a
21	NR2F2	chr8:9149284-9149595	K562	blood:	n/a	n/a
22	NRF1	chr8:9143487-9143531	K562	blood:	n/a	n/a
23	POLR2A	chr8:9139478-9139939	H1-neurons	neurons:	n/a	n/a
24	POLR2A	chr8:9142900-9143020	ProgFib	skin:	n/a	n/a
25	RCOR1	chr8:9143756-9144124	K562	blood:	n/a	n/a
26	RCOR1	chr8:9149247-9149692	K562	blood:	n/a	n/a
27	SPI1	chr8:9148015-9148192	K562	blood:	n/a	n/a
28	STAT3	chr8:9144412-9144522	MCF10A-Er-Src	breast:	n/a	n/a
29	TAL1	chr8:9143735-9144082	K562	blood:	n/a	n/a
30	TAL1	chr8:9149358-9149577	K562	blood:	n/a	n/a
31	TEAD4	chr8:9149288-9149644	K562	blood:	n/a	n/a
32	UBTF	chr8:9142714-9142784	K562	blood:	n/a	n/a
33	UBTF	chr8:9143679-9143807	K562	blood:	n/a	n/a
34	ZNF384	chr8:9145572-9145818	K562	blood:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:9121493..9123437-chr8:9133381..9135913,2	K562	blood:
2	chr8:9130214..9132621-chr8:9133703..9136409,3	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PPP1R3B-5	chr8:9150303-9150422	l_3544_chr8:9150302-9155215_testes

No data

Variant related genes	Relation type
RNU6-1151P	TF binding region

Extended variants
information (count: 817 )
Associated
traits (count: 135 )

Variant overlapped rSNPs/rCNVs (count:817 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1017760	chr8:9133798-9133799	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs531183121	chr8:9133824-9133825	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs191335579	chr8:9133825-9133826	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs560834286	chr8:9133875-9133876	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs566120881	chr8:9133880-9133881	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs529775114	chr8:9133905-9133906	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs115140302	chr8:9133953-9133954	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs377308339	chr8:9134027-9134028	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs149308609	chr8:9134061-9134062	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs532331231	chr8:9134071-9134072	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs117037226	chr8:9134088-9134089	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs568817232	chr8:9134108-9134109	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs76382817	chr8:9134151-9134152	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs1870787	chr8:9134157-9134158	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs11249912	chr8:9134180-9134181	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs536383217	chr8:9134181-9134182	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs112248943	chr8:9134182-9134183	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs573408162	chr8:9134189-9134190	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs545589651	chr8:9134222-9134223	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs559154119	chr8:9134227-9134228	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs62493778	chr8:9134252-9134253	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs73199674	chr8:9134289-9134290	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs544894368	chr8:9134290-9134291	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs184667084	chr8:9134291-9134292	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs576179659	chr8:9134307-9134308	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs529682029	chr8:9134328-9134329	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs540000059	chr8:9134380-9134381	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs556679634	chr8:9134382-9134383	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs188736440	chr8:9134388-9134389	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs193259748	chr8:9134390-9134391	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs7824926	chr8:9134446-9134447	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs562312009	chr8:9134485-9134486	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs184984113	chr8:9134489-9134490	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs148022518	chr8:9134492-9134493	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs567596197	chr8:9134503-9134504	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs536650462	chr8:9134513-9134514	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs546634365	chr8:9134532-9134533	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs34203905	chr8:9134563-9134564	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs374834840	chr8:9134570-9134571	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs141695076	chr8:9134574-9134575	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs189020052	chr8:9134578-9134579	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs330027	chr8:9134584-9134585	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs115777841	chr8:9134589-9134590	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs555297938	chr8:9134590-9134591	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs546988563	chr8:9134595-9134596	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs111582082	chr8:9134613-9134614	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs11783632	chr8:9134637-9134638	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs559856749	chr8:9134659-9134660	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs576890463	chr8:9134660-9134661	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs545468883	chr8:9134669-9134670	Weak transcription Enhancers	n/a	n/a	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:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:9129600-9141200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr8:9133600-9135000	Enhancers	Fetal Heart	heart
3	chr8:9134800-9135000	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr8:9136000-9136200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr8:9138000-9138400	Enhancers	Brain Germinal Matrix	brain
6	chr8:9138200-9138800	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr8:9138400-9138800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr8:9139600-9143000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr8:9140200-9143800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr8:9142800-9143000	Enhancers	Skeletal Muscle Male	skeletal muscle
11	chr8:9143000-9143200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr8:9143000-9144000	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr8:9143000-9144200	Enhancers	K562	blood
14	chr8:9143800-9144200	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr8:9148200-9148600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr8:9148600-9149600	Enhancers	Fetal Intestine Small	intestine
17	chr8:9148600-9150400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr8:9148800-9150400	Enhancers	Fetal Intestine Large	intestine
19	chr8:9149200-9149400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr8:9149200-9150400	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr8:9149200-9156400	Enhancers	Fetal Heart	heart
22	chr8:9149400-9150200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr8:9149400-9150200	Enhancers	Skeletal Muscle Male	skeletal muscle
24	chr8:9150200-9150400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr8:9150200-9150600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr8:9150200-9151000	Enhancers	Right Atrium	heart
27	chr8:9150400-9160200	Weak transcription	Fetal Intestine Large	intestine
28	chr8:9151000-9152800	Weak transcription	Right Atrium	heart

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