Variant report

Variant	rs11703526
Chromosome Location	chr22:31485994-31485995
allele	G/T
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	POLR2A	chr22:31485249-31486079	U87	brain:	n/a	n/a
2	POLR2A	chr22:31485317-31486030	U87	brain:	n/a	n/a

Variant related genes	Relation type
SMTN	TF binding region

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs12485025	1.00[LWK][hapmap];1.00[MEX][hapmap]
rs2073856	1.00[CEU][hapmap]
rs5753463	1.00[MEX][hapmap]
rs5997854	1.00[YRI][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

No data

Chromatin state (count:110 , 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	chr22:31481600-31486400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr22:31481600-31487400	Genic enhancers	Fetal Muscle Trunk	muscle
5	chr22:31481600-31488200	Weak transcription	Psoas Muscle	Psoas
6	chr22:31481600-31491800	Weak transcription	Small Intestine	intestine
7	chr22:31481600-31493800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr22:31481800-31486200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr22:31481800-31486800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr22:31481800-31486800	Weak transcription	Primary neutrophils fromperipheralblood	blood
11	chr22:31481800-31487200	Genic enhancers	Placenta	Placenta
12	chr22:31481800-31494400	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr22:31482000-31486800	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr22:31482000-31487400	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr22:31482000-31487600	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr22:31482000-31488800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr22:31482000-31489600	Weak transcription	Fetal Brain Male	brain
18	chr22:31482000-31494600	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr22:31482000-31496200	Transcr. at gene 5' and 3'	Stomach Smooth Muscle	stomach
20	chr22:31482000-31497400	Strong transcription	Aorta	Aorta
21	chr22:31482000-31497800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr22:31482000-31497800	Weak transcription	Hela-S3	cervix
23	chr22:31482000-31500800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr22:31482000-31501000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr22:31482000-31501200	Weak transcription	Primary hematopoietic stem cells	blood
26	chr22:31482200-31498800	Strong transcription	Fetal Lung	lung
27	chr22:31482400-31488000	Weak transcription	Brain Cingulate Gyrus	brain
28	chr22:31482400-31494400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr22:31482400-31497800	Strong transcription	Muscle Satellite Cultured Cells	--
30	chr22:31482600-31488800	Strong transcription	Gastric	stomach
31	chr22:31482600-31489000	Weak transcription	Right Atrium	heart
32	chr22:31482600-31491200	Strong transcription	Lung	lung
33	chr22:31482800-31488000	Weak transcription	Brain Angular Gyrus	brain
34	chr22:31482800-31497800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr22:31482800-31497800	Strong transcription	Osteobl	bone
36	chr22:31483000-31487200	Strong transcription	Fetal Intestine Large	intestine
37	chr22:31483000-31488200	Strong transcription	Brain Germinal Matrix	brain
38	chr22:31483000-31488200	Weak transcription	Brain Hippocampus Middle	brain
39	chr22:31483000-31494400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr22:31483000-31498600	Strong transcription	Thymus	Thymus
41	chr22:31483200-31489400	Strong transcription	HepG2	liver
42	chr22:31483200-31497800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr22:31483200-31497800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr22:31483200-31500600	Strong transcription	HUVEC	blood vessel
45	chr22:31483200-31502000	Strong transcription	NHEK	skin
46	chr22:31483400-31487000	Genic enhancers	Spleen	Spleen
47	chr22:31483400-31488600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
48	chr22:31483400-31490600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr22:31483400-31493800	Strong transcription	Fetal Intestine Small	intestine
50	chr22:31483400-31493800	Weak transcription	Stomach Mucosa	stomach

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