Variant report

Variant	nsv962567
Chromosome Location	chr20:25347628-25350309
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	chr20:25347977-25348278	HepG2	liver:	n/a	chr20:25348123-25348134
2	CEBPB	chr20:25349526-25349582	HepG2	liver:	n/a	chr20:25349535-25349546
3	CEBPB	chr20:25350286-25350672	K562	blood:	n/a	chr20:25350491-25350502
4	CEBPB	chr20:25347995-25348257	A549	lung:	n/a	chr20:25348123-25348134
5	TCF7L2	chr20:25348355-25348456	HepG2	liver:	n/a	n/a
6	TCF7L2	chr20:25347553-25347862	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr20:25343419..25348845-chr20:25348965..25353125,6	MCF-7	breast:
2	chr20:25347572..25351720-chr20:25369390..25373253,5	MCF-7	breast:
3	chr20:25347656..25349270-chr20:25370740..25373063,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NINL-1	chr20:25348911-25349402	NONHSAT079153

Variant related genes	Relation type
PPIAP2	TF binding region
ENSG00000227379	chromatin interactions
ENSG00000100997	chromatin interactions

Extended variants
information (count: 105 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:105 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs113902037	chr20:25347688-25347689	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs182652783	chr20:25347707-25347708	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs145048441	chr20:25347773-25347774	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs566879286	chr20:25347834-25347835	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs546103325	chr20:25347964-25347965	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs146803908	chr20:25347985-25347986	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs531401669	chr20:25348019-25348020	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs564306727	chr20:25348047-25348048	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs541959883	chr20:25348048-25348049	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs369612733	chr20:25348052-25348053	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs112949908	chr20:25348053-25348054	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs199946412	chr20:25348067-25348068	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs566503897	chr20:25348070-25348071	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs532704231	chr20:25348112-25348113	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs116355809	chr20:25348143-25348144	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs569483476	chr20:25348171-25348172	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs145764535	chr20:25348208-25348209	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs6132828	chr20:25348240-25348241	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs188948921	chr20:25348260-25348261	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs2500394	chr20:25348277-25348278	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs199919483	chr20:25348339-25348340	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs367900268	chr20:25348341-25348342	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs192490838	chr20:25348420-25348421	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs184447167	chr20:25348491-25348492	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs113362752	chr20:25348541-25348542	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs576899291	chr20:25348552-25348553	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs539790597	chr20:25348556-25348557	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs188992531	chr20:25348557-25348558	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs561795646	chr20:25348560-25348561	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs142001969	chr20:25348563-25348564	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs150305192	chr20:25348585-25348586	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs34463335	chr20:25348634-25348635	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs6076339	chr20:25348712-25348713	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs574617483	chr20:25348713-25348714	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs540316569	chr20:25348730-25348731	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs191960562	chr20:25348748-25348749	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs532370801	chr20:25348755-25348756	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs373139327	chr20:25348814-25348815	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs563050355	chr20:25348852-25348853	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs137904876	chr20:25348911-25348912	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
41	rs62213725	chr20:25348926-25348927	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
42	rs184779702	chr20:25348948-25348949	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
43	rs568618613	chr20:25349010-25349011	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
44	rs533913937	chr20:25349043-25349044	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
45	rs547512325	chr20:25349081-25349082	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
46	rs570514124	chr20:25349082-25349083	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
47	rs4815410	chr20:25349090-25349091	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
48	rs565316502	chr20:25349117-25349118	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
49	rs2500395	chr20:25349120-25349121	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs556087674	chr20:25349136-25349137	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	16272173	CNVD
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	19627613	CNVD
colon cancer	17210682	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Colorectal cancer	19359472	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Central neurocytomas	17123091	CNVD
Colorectal cancer	16272173	CNVD
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Colorectal cancer	21645411	CNVD
Lung cancer	18438408	CNVD
Autism	22495311	CNVD
Renal cell carcinoma	18765545	CNVD
Alagille syndrome	17576883	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Cancer	21183584	CNVD
Myxofibrosarcoma	16751306	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Breast cancer	16608533	CNVD
Bladder cancer	21909424	CNVD
Esophageal cancer	21851588	CNVD
Breast cancer	17133270	CNVD
Thrombophilia	17576883	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	21062444	CNVD
Hepatocellular carcinoma	22174799	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Chordoma	18071362	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	21364760	CNVD
Oral cancer	21386901	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:25292600-25351600	Weak transcription	NHDF-Ad	bronchial
2	chr20:25319200-25348400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr20:25327400-25361400	Weak transcription	Primary T cells from cord blood	blood
4	chr20:25334600-25353600	Weak transcription	Aorta	Aorta
5	chr20:25334600-25357600	Weak transcription	Fetal Muscle Leg	muscle
6	chr20:25334800-25351000	Weak transcription	Fetal Intestine Small	intestine
7	chr20:25334800-25362600	Weak transcription	Stomach Smooth Muscle	stomach
8	chr20:25335800-25350200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr20:25337000-25370000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr20:25337400-25355600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr20:25337600-25353600	Weak transcription	Thymus	Thymus
12	chr20:25337600-25354200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr20:25337600-25362800	Weak transcription	Spleen	Spleen
14	chr20:25337800-25350400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr20:25338000-25348000	Weak transcription	Brain Cingulate Gyrus	brain
16	chr20:25338000-25369400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr20:25338200-25350000	Weak transcription	Brain Angular Gyrus	brain
18	chr20:25338200-25359000	Weak transcription	Fetal Intestine Large	intestine
19	chr20:25339400-25349800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr20:25339400-25359600	Weak transcription	Lung	lung
21	chr20:25341800-25357600	Weak transcription	Ovary	ovary
22	chr20:25342200-25348000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr20:25342200-25349200	Weak transcription	NHLF	lung
24	chr20:25342200-25353200	Weak transcription	Fetal Lung	lung
25	chr20:25342200-25354600	Weak transcription	Dnd41	blood
26	chr20:25342200-25361800	Weak transcription	Primary B cells from cord blood	blood
27	chr20:25342200-25362600	Weak transcription	Primary B cells from peripheral blood	blood
28	chr20:25342200-25370000	Weak transcription	Primary hematopoietic stem cells	blood
29	chr20:25342400-25355600	Weak transcription	A549	lung
30	chr20:25342400-25357600	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr20:25343800-25370000	Weak transcription	Small Intestine	intestine
32	chr20:25345200-25369800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr20:25345600-25349600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr20:25345600-25351000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr20:25345600-25353600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr20:25345800-25348800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr20:25345800-25349200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr20:25345800-25350000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr20:25345800-25350200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr20:25345800-25350400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr20:25345800-25353200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr20:25345800-25354200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr20:25345800-25357600	Weak transcription	Right Atrium	heart
44	chr20:25345800-25359400	Weak transcription	Left Ventricle	heart
45	chr20:25345800-25359600	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr20:25345800-25361600	Weak transcription	K562	blood
47	chr20:25345800-25363200	Weak transcription	Esophagus	oesophagus
48	chr20:25345800-25369800	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr20:25345800-25370000	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr20:25345800-25370000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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