Variant report

Variant	nsv516627
Chromosome Location	chr2:169714893-169721377
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:16)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:16 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr2:169721305-169721332	Lung_OC	lung:	n/a	n/a
2	CTCF	chr2:169719860-169720010	MCF-7	breast:	n/a	n/a
3	CUX1	chr2:169718384-169718422	K562	blood:	n/a	n/a
4	POLR2A	chr2:169715059-169715380	K562	blood:	n/a	n/a
5	POLR2A	chr2:169710740-169716910	K562	blood:	n/a	n/a
6	POLR2A	chr2:169720948-169721053	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr2:169717176-169722105	K562	blood:	n/a	n/a
8	POLR2A	chr2:169718051-169718251	MCF10A-Er-Src	breast:	n/a	n/a
9	REST	chr2:169717019-169717098	GM12878	blood:	n/a	n/a
10	REST	chr2:169720921-169721069	H1-hESC	embryonic stem cell:	n/a	n/a
11	RFX5	chr2:169716113-169716130	H1-hESC	embryonic stem cell:	n/a	n/a
12	RFX5	chr2:169718249-169718442	K562	blood:	n/a	n/a
13	RXRA	chr2:169720928-169721075	HepG2	liver:	n/a	n/a
14	TBL1XR1	chr2:169716002-169716041	K562	blood:	n/a	n/a
15	USF1	chr2:169716980-169717110	GM12878	blood:	n/a	n/a
16	USF2	chr2:169716501-169716559	Hela-S3	cervix:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:54718655..54719474-chr2:169720398..169720917,2	Hela-S3	cervix:
2	chr1:28831833..28832817-chr2:169720397..169720916,2	Hela-S3	cervix:
3	chr2:169712836..169714967-chr2:169721509..169723147,2	K562	blood:
4	chr2:169708518..169710215-chr2:169719291..169720993,2	K562	blood:
5	chr2:169710784..169714021-chr2:169716907..169719872,4	K562	blood:

No data

Variant related genes	Relation type
NOSTRIN	TF binding region
ENSG00000242125	chromatin interactions
ENSG00000111481	chromatin interactions
ENSG00000180198	chromatin interactions
ENSG00000163072	chromatin interactions

Extended variants
information (count: 309 )
Associated
traits (count: 48 )

Variant overlapped rSNPs/rCNVs (count:309 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs569997	chr2:169714893-169714894	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs368599310	chr2:169714927-169714928	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs185760501	chr2:169714935-169714936	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs192331122	chr2:169714965-169714966	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs184063284	chr2:169715020-169715021	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs560139949	chr2:169715031-169715032	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs117564856	chr2:169715032-169715033	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs536323339	chr2:169715054-169715055	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs549210713	chr2:169715134-169715135	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs568884572	chr2:169715165-169715166	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs12471702	chr2:169715168-169715169	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs542755934	chr2:169715204-169715205	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs554367667	chr2:169715235-169715236	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs562506550	chr2:169715263-169715264	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs531539604	chr2:169715301-169715302	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs537864942	chr2:169715318-169715319	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs150167180	chr2:169715326-169715327	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs73969989	chr2:169715327-169715328	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs557765505	chr2:169715329-169715330	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs374098000	chr2:169715330-169715331	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs145438037	chr2:169715376-169715377	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs547396334	chr2:169715433-169715434	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs570391825	chr2:169715480-169715481	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs148830586	chr2:169715607-169715608	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs16823013	chr2:169715610-169715611	Weak transcription Strong transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs111906828	chr2:169715660-169715661	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs539400791	chr2:169715667-169715668	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs569322197	chr2:169715679-169715680	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs576062	chr2:169715686-169715687	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs558101957	chr2:169715688-169715689	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs35073023	chr2:169715702-169715703	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs368075219	chr2:169715705-169715706	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs553741241	chr2:169715771-169715772	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs535504724	chr2:169715867-169715868	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs11296225	chr2:169715868-169715869	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs573708241	chr2:169715871-169715872	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs542666057	chr2:169715875-169715876	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs16856061	chr2:169715881-169715882	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs372816885	chr2:169715995-169715996	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs372756951	chr2:169716039-169716040	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs189033498	chr2:169716050-169716051	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs375743309	chr2:169716051-169716052	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs369169893	chr2:169716064-169716065	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs372606941	chr2:169716066-169716067	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs377246627	chr2:169716082-169716083	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs201358088	chr2:169716098-169716099	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs545174739	chr2:169716109-169716110	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs34073293	chr2:169716114-169716115	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs200505904	chr2:169716170-169716171	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs113440271	chr2:169716273-169716274	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:48)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Mental retardation	22214275	CNVD
Glioblastoma	21080181	CNVD
small cell lung cancer	20016488	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Developmental delay	21147756	CNVD
Prostate cancer	16573809	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Donnai-Barrow syndrome	21085971	CNVD
Breast cancer	21045282	CNVD
Limb abnormalities	22140379	CNVD
Breast cancer	22522925	CNVD
Sudden cardiac death	19188705	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:184 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:169683400-169717600	Weak transcription	Ovary	ovary
2	chr2:169689000-169721800	Weak transcription	Rectal Smooth Muscle	rectum
3	chr2:169693400-169721400	Weak transcription	Spleen	Spleen
4	chr2:169693600-169721400	Weak transcription	Right Ventricle	heart
5	chr2:169698400-169721200	Weak transcription	Stomach Mucosa	stomach
6	chr2:169698600-169744600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr2:169702200-169721200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr2:169702200-169733000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr2:169702600-169721400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr2:169703600-169721200	Weak transcription	GM12878-XiMat	blood
11	chr2:169704200-169723400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr2:169704600-169721400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr2:169705000-169721000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr2:169705000-169723600	Weak transcription	Fetal Brain Female	brain
15	chr2:169705200-169721400	Weak transcription	Fetal Kidney	kidney
16	chr2:169706000-169719000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr2:169706200-169717600	Weak transcription	Pancreas	Pancrea
18	chr2:169706600-169721600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr2:169706600-169727800	Weak transcription	Primary monocytes fromperipheralblood	blood
20	chr2:169706800-169718400	Weak transcription	Liver	Liver
21	chr2:169707000-169721000	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr2:169707400-169722000	Strong transcription	Rectal Mucosa Donor 31	rectum
23	chr2:169708600-169723200	Weak transcription	NHLF	lung
24	chr2:169708800-169717600	Weak transcription	Gastric	stomach
25	chr2:169708800-169718400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr2:169708800-169721000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr2:169708800-169721200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr2:169708800-169721200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr2:169708800-169721200	Weak transcription	A549	lung
30	chr2:169708800-169721200	Weak transcription	HMEC	breast
31	chr2:169709200-169721400	Weak transcription	HUVEC	blood vessel
32	chr2:169709400-169715200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr2:169709400-169721000	Weak transcription	Colonic Mucosa	Colon
34	chr2:169709400-169721200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr2:169709800-169721000	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr2:169709800-169733400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr2:169710000-169719000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr2:169710200-169721200	Weak transcription	Fetal Lung	lung
39	chr2:169710200-169721400	Weak transcription	NHEK	skin
40	chr2:169710400-169721200	Strong transcription	K562	blood
41	chr2:169711400-169715200	Enhancers	Pancreatic Islets	Pancreatic Islet
42	chr2:169711400-169717600	Weak transcription	Lung	lung
43	chr2:169711400-169721000	Weak transcription	Fetal Muscle Leg	muscle
44	chr2:169711400-169721600	Weak transcription	NH-A	brain
45	chr2:169711600-169716200	Weak transcription	Esophagus	oesophagus
46	chr2:169711600-169717200	Weak transcription	Fetal Muscle Trunk	muscle
47	chr2:169711800-169718400	Weak transcription	Primary neutrophils fromperipheralblood	blood
48	chr2:169712600-169721200	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr2:169712600-169727800	Weak transcription	Primary T cells from cord blood	blood
50	chr2:169713000-169715400	Enhancers	Fetal Heart	heart

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