Variant report

Variant	nsv521885
Chromosome Location	chr10:1116671-1117514
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	CEBPB	chr10:1116778-1117265	IMR90	lung:	n/a	chr10:1116969-1116978 chr10:1116969-1116978 chr10:1116969-1116978
2	CEBPB	chr10:1116794-1117216	MCF-7	breast:	n/a	chr10:1116969-1116978 chr10:1116969-1116978 chr10:1116969-1116978
3	CEBPB	chr10:1116779-1117165	Hela-S3	cervix:	n/a	chr10:1116969-1116978 chr10:1116969-1116978 chr10:1116969-1116978
4	CEBPB	chr10:1116807-1117127	K562	blood:	n/a	chr10:1116969-1116978 chr10:1116969-1116978 chr10:1116969-1116978
5	CEBPB	chr10:1116806-1117141	A549	lung:	n/a	chr10:1116969-1116978 chr10:1116969-1116978 chr10:1116969-1116978
6	CEBPB	chr10:1116780-1117167	K562	blood:	n/a	chr10:1116969-1116978 chr10:1116969-1116978 chr10:1116969-1116978
7	CEBPB	chr10:1116796-1117214	MCF-7	breast:	n/a	chr10:1116969-1116978 chr10:1116969-1116978 chr10:1116969-1116978
8	CEBPB	chr10:1116798-1117145	HepG2	liver:	n/a	chr10:1116969-1116978 chr10:1116969-1116978 chr10:1116969-1116978
9	CEBPB	chr10:1116784-1117113	H1-hESC	embryonic stem cell:	n/a	chr10:1116969-1116978 chr10:1116969-1116978 chr10:1116969-1116978
10	CEBPB	chr10:1116780-1117217	A549	lung:	n/a	chr10:1116969-1116978 chr10:1116969-1116978 chr10:1116969-1116978
11	FOXA1	chr10:1116865-1117134	HepG2	liver:	n/a	n/a
12	MAFK	chr10:1116849-1117146	K562	blood:	n/a	chr10:1117060-1117077
13	MYC	chr10:1116803-1117092	MCF10A-Er-Src	breast:	n/a	n/a
14	POLR2A	chr10:1116866-1116987	MCF-7	breast:	n/a	n/a
15	POLR2A	chr10:1116920-1117262	K562	blood:	n/a	n/a
16	SIN3A	chr10:1116915-1117220	H1-hESC	embryonic stem cell:	n/a	n/a
17	STAT3	chr10:1116831-1117270	MCF10A-Er-Src	breast:	n/a	n/a
18	ZNF384	chr10:1116956-1117103	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:1093873..1095888-chr10:1114642..1117199,3	MCF-7	breast:
2	chr10:1115932..1118235-chr10:1118338..1121067,2	MCF-7	breast:
3	chr10:1106369..1108344-chr10:1116985..1118737,2	MCF-7	breast:
4	chr10:1112637..1115421-chr10:1115879..1118083,3	MCF-7	breast:
5	chr10:1115150..1117674-chr10:1118822..1121037,2	K562	blood:
6	chr10:1103509..1105162-chr10:1115825..1118791,2	MCF-7	breast:
7	chr10:1115087..1117560-chr10:1123514..1126172,2	MCF-7	breast:

Variant related genes	Relation type
WDR37	TF binding region
ENSG00000047056	chromatin interactions
ENSG00000067064	chromatin interactions

Extended variants
information (count: 40 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:40 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2387217	chr10:1116671-1116672	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs376961149	chr10:1116673-1116674	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs556296153	chr10:1116691-1116692	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs140277316	chr10:1116750-1116751	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs550543290	chr10:1116753-1116754	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs74120404	chr10:1116758-1116759	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs536015236	chr10:1116766-1116767	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs559133118	chr10:1116771-1116772	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs553114178	chr10:1116790-1116791	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs185174183	chr10:1116870-1116871	Enhancers Weak transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs370158915	chr10:1116874-1116875	Enhancers Weak transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs11250248	chr10:1116973-1116974	Enhancers Weak transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs538665420	chr10:1116980-1116981	Enhancers Weak transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs112992143	chr10:1116987-1116988	Enhancers Weak transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs554934986	chr10:1116996-1116997	Enhancers Weak transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs56385713	chr10:1116997-1116998	Enhancers Weak transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs11250249	chr10:1116999-1117000	Enhancers Weak transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs138016885	chr10:1117028-1117029	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs561372459	chr10:1117037-1117038	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs574984749	chr10:1117062-1117063	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs74120406	chr10:1117090-1117091	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs116710770	chr10:1117106-1117107	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs532449741	chr10:1117117-1117118	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs552190194	chr10:1117120-1117121	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs545848721	chr10:1117135-1117136	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs74120407	chr10:1117147-1117148	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs148274647	chr10:1117165-1117166	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs550856222	chr10:1117169-1117170	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs567409272	chr10:1117189-1117190	Enhancers Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs142933391	chr10:1117221-1117222	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs546794795	chr10:1117236-1117237	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs566604826	chr10:1117329-1117330	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs376157373	chr10:1117341-1117342	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs112507028	chr10:1117357-1117358	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs369445898	chr10:1117369-1117370	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs538727730	chr10:1117457-1117458	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs80141980	chr10:1117459-1117460	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs189391749	chr10:1117460-1117461	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs116879460	chr10:1117497-1117498	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs11250250	chr10:1117514-1117515	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:55)

Disease	PMID	Source
Myelofibrosis	22110671	CNVD
Breast cancer	20409316	CNVD
Gastric adenocarcinoma	19115996	CNVD
Pilocytic astrocytoma	18622384	CNVD
Pilomyxoid astrocytoma	18622384	CNVD
Breast cancer	17133270	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Cancer	21129771	CNVD
Sudden cardiac death	19188705	CNVD
Digeorge syndrome	22283845	CNVD
Colorectal cancer	20709793	CNVD
Wilms tumour	19047088	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21183584	CNVD
Barakat syndrome	22470819	CNVD
Melanoma	18172304	CNVD
Ovarian cancer	21720365	CNVD
Autism	18414403	CNVD
Malignant melanoma	18718029	CNVD
Breast cancer	22032731	CNVD
Medulloblastoma	16783165	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Phyllodes tumor	17334353	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Melanoma	17363583	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Oral cancer	21386901	CNVD
Breast cancer	21785460	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	21509527	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Glioblastoma multiforme	21525872	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:187 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:1103600-1119400	Weak transcription	Aorta	Aorta
2	chr10:1103600-1119600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr10:1103800-1118200	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr10:1104200-1116800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr10:1104200-1116800	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr10:1104200-1118000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr10:1104200-1118200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr10:1104200-1118200	Weak transcription	Brain Angular Gyrus	brain
9	chr10:1104200-1119200	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr10:1104200-1119200	Weak transcription	Stomach Smooth Muscle	stomach
11	chr10:1104200-1119600	Weak transcription	Fetal Lung	lung
12	chr10:1104200-1119600	Weak transcription	Psoas Muscle	Psoas
13	chr10:1104200-1119600	Weak transcription	Rectal Smooth Muscle	rectum
14	chr10:1104400-1116800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr10:1104400-1116800	Weak transcription	Small Intestine	intestine
16	chr10:1104400-1118000	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr10:1104400-1118000	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr10:1104400-1118000	Weak transcription	Fetal Muscle Leg	muscle
19	chr10:1104400-1118000	Weak transcription	HSMMtube	muscle
20	chr10:1104400-1119600	Weak transcription	Brain Cingulate Gyrus	brain
21	chr10:1104400-1119600	Weak transcription	Brain Germinal Matrix	brain
22	chr10:1104400-1119600	Weak transcription	Brain Hippocampus Middle	brain
23	chr10:1104400-1125800	Weak transcription	A549	lung
24	chr10:1104600-1124400	Weak transcription	Colon Smooth Muscle	Colon
25	chr10:1104800-1116800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr10:1104800-1118000	Weak transcription	Adipose Nuclei	Adipose
27	chr10:1104800-1125200	Weak transcription	K562	blood
28	chr10:1104800-1125800	Weak transcription	Fetal Brain Male	brain
29	chr10:1107000-1116800	Weak transcription	Esophagus	oesophagus
30	chr10:1107000-1118000	Weak transcription	Pancreas	Pancrea
31	chr10:1107600-1118000	Weak transcription	GM12878-XiMat	blood
32	chr10:1108200-1116800	Weak transcription	Right Atrium	heart
33	chr10:1108200-1118000	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr10:1108400-1116800	Weak transcription	HSMM	muscle
35	chr10:1108600-1118200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr10:1108600-1142400	Weak transcription	Stomach Mucosa	stomach
37	chr10:1108600-1144600	Weak transcription	Fetal Heart	heart
38	chr10:1108800-1118000	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr10:1109000-1118000	Weak transcription	Left Ventricle	heart
40	chr10:1109800-1116800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr10:1109800-1116800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr10:1109800-1116800	Weak transcription	Right Ventricle	heart
43	chr10:1109800-1116800	Weak transcription	NHLF	lung
44	chr10:1109800-1118000	Weak transcription	Primary hematopoietic stem cells	blood
45	chr10:1109800-1118000	Weak transcription	Duodenum Mucosa	Duodenum
46	chr10:1109800-1118000	Weak transcription	Fetal Intestine Small	intestine
47	chr10:1109800-1118000	Weak transcription	Fetal Muscle Trunk	muscle
48	chr10:1109800-1118000	Weak transcription	Gastric	stomach
49	chr10:1109800-1118000	Weak transcription	Lung	lung
50	chr10:1109800-1118200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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