Variant report

Variant	rs917208
Chromosome Location	chr22:31493125-31493126
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr22:31492949-31493153	H1-hESC	embryonic stem cell:	n/a	n/a
2	CTCF	chr22:31492980-31493130	WERI-Rb-1	eye:	n/a	n/a
3	RAD21	chr22:31492905-31493238	H1-hESC	embryonic stem cell:	n/a	n/a
4	RAD21	chr22:31492863-31493281	H1-hESC	embryonic stem cell:	n/a	n/a
5	RAD21	chr22:31492863-31493248	H1-hESC	embryonic stem cell:	n/a	n/a
6	CTCF	chr22:31492926-31493146	H1-hESC	embryonic stem cell:	n/a	n/a
7	CTCF	chr22:31492891-31493245	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:31491384..31493577-chr22:31536978..31538915,3	K562	blood:
2	chr22:31487586..31489310-chr22:31491925..31494269,2	K562	blood:
3	chr22:31492619..31494679-chr22:31496588..31498547,2	MCF-7	breast:
4	chr22:31357365..31359982-chr22:31491835..31493430,2	MCF-7	breast:
5	chr22:31476077..31485695-chr22:31490616..31506508,29	K562	blood:
6	chr22:31493063..31495766-chr22:31501583..31503535,2	MCF-7	breast:

No data

Variant related genes	Relation type
SMTN	TF binding region
ENSG00000183963	Chromatin interaction
ENSG00000273387	Chromatin interaction
ENSG00000198832	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11705137	1.00[CHD][hapmap]
rs12167220	1.00[CHD][hapmap]
rs12485186	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1990125	1.00[ASN][1000 genomes]
rs2017301	1.00[CHD][hapmap]
rs2413016	1.00[CHD][hapmap];1.00[LWK][hapmap];0.92[MEX][hapmap];1.00[ASN][1000 genomes]
rs4820933	1.00[ASN][1000 genomes]
rs56017492	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5753446	1.00[CHD][hapmap];0.92[MEX][hapmap];1.00[ASN][1000 genomes]
rs73156781	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73156787	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73156792	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73156799	0.87[ASN][1000 genomes]
rs9621188	1.00[CHD][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv9896	chr22:31369204-31513933	Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
2	nsv829173	chr22:31450043-31543956	Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	nsv914975	chr22:31466083-31514477	Active TSS Flanking Active TSS Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
4	nsv914976	chr22:31475307-31543260	Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
5	nsv914977	chr22:31477563-31514477	Genic enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs917208	EWSR1	cis	parietal	SCAN
rs917208	SMTN	cis	cerebellum	SCAN
rs917208	RNF185	cis	parietal	SCAN
rs917208	SLC35E4	cis	cerebellum	SCAN

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31481400-31494200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr22:31481400-31494600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr22:31481600-31493800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr22:31481800-31494400	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr22:31482000-31494600	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr22:31482000-31496200	Transcr. at gene 5' and 3'	Stomach Smooth Muscle	stomach
7	chr22:31482000-31497400	Strong transcription	Aorta	Aorta
8	chr22:31482000-31497800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr22:31482000-31497800	Weak transcription	Hela-S3	cervix
10	chr22:31482000-31500800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr22:31482000-31501000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr22:31482000-31501200	Weak transcription	Primary hematopoietic stem cells	blood
13	chr22:31482200-31498800	Strong transcription	Fetal Lung	lung
14	chr22:31482400-31494400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr22:31482400-31497800	Strong transcription	Muscle Satellite Cultured Cells	--
16	chr22:31482800-31497800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr22:31482800-31497800	Strong transcription	Osteobl	bone
18	chr22:31483000-31494400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr22:31483000-31498600	Strong transcription	Thymus	Thymus
20	chr22:31483200-31497800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr22:31483200-31497800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr22:31483200-31500600	Strong transcription	HUVEC	blood vessel
23	chr22:31483200-31502000	Strong transcription	NHEK	skin
24	chr22:31483400-31493800	Strong transcription	Fetal Intestine Small	intestine
25	chr22:31483400-31493800	Weak transcription	Stomach Mucosa	stomach
26	chr22:31483600-31497400	Strong transcription	Sigmoid Colon	Sigmoid Colon
27	chr22:31483600-31497800	Strong transcription	HMEC	breast
28	chr22:31483800-31493800	Strong transcription	NHDF-Ad	bronchial
29	chr22:31483800-31494000	Strong transcription	Placenta Amnion	Placenta Amnion
30	chr22:31483800-31497400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr22:31483800-31499600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr22:31484000-31498600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr22:31484000-31502600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr22:31484400-31499200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr22:31484600-31494400	Strong transcription	Rectal Mucosa Donor 31	rectum
36	chr22:31485200-31500800	Weak transcription	Fetal Thymus	thymus
37	chr22:31485200-31503000	Weak transcription	Fetal Kidney	kidney
38	chr22:31485400-31498000	Strong transcription	Adipose Nuclei	Adipose
39	chr22:31485400-31500000	Strong transcription	Pancreas	Pancrea
40	chr22:31485600-31493200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr22:31485600-31493200	Strong transcription	NHLF	lung
42	chr22:31485800-31494400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr22:31485800-31502800	Weak transcription	GM12878-XiMat	blood
44	chr22:31486000-31493800	Strong transcription	Duodenum Mucosa	Duodenum
45	chr22:31486000-31494800	Weak transcription	Primary B cells from cord blood	blood
46	chr22:31486600-31493800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr22:31486600-31494600	Transcr. at gene 5' and 3'	Colon Smooth Muscle	Colon
48	chr22:31486800-31498600	Strong transcription	Primary neutrophils fromperipheralblood	blood
49	chr22:31487400-31497800	Strong transcription	NH-A	brain
50	chr22:31487600-31493800	Strong transcription	Fetal Intestine Large	intestine

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