Variant report

Variant	rs11702887
Chromosome Location	chr22:31494195-31494196
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr22:31494173-31494848	U87	brain:	n/a	n/a
2	POLR2A	chr22:31494118-31494271	HepG2	liver:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr22:31486882..31489559-chr22:31493871..31495711,2	MCF-7	breast:
2	chr22:31487586..31489310-chr22:31491925..31494269,2	K562	blood:
3	chr22:31478816..31484481-chr22:31493390..31497944,7	MCF-7	breast:
4	chr22:31492619..31494679-chr22:31496588..31498547,2	MCF-7	breast:
5	chr22:31476077..31485695-chr22:31490616..31506508,29	K562	blood:
6	chr22:31493063..31495766-chr22:31501583..31503535,2	MCF-7	breast:
7	chr22:31494012..31497911-chr22:31499689..31503512,5	K562	blood:

No data

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

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11703298	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11703938	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11703987	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11704170	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11704373	0.92[AMR][1000 genomes]
rs11704428	0.92[AMR][1000 genomes]
rs11704577	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11704692	0.92[AMR][1000 genomes]
rs11704852	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11704901	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11704907	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11704918	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11705035	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11705054	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11705064	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17822214	1.00[CHB][hapmap];0.85[AMR][1000 genomes]
rs35541583	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs5994357	1.00[CHB][hapmap]
rs5994367	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs5997818	1.00[CHB][hapmap]
rs5997850	1.00[CHB][hapmap]
rs73406153	0.92[AMR][1000 genomes]

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:113 , 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	chr22:31481800-31494400	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr22:31482000-31494600	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr22:31482000-31496200	Transcr. at gene 5' and 3'	Stomach Smooth Muscle	stomach
6	chr22:31482000-31497400	Strong transcription	Aorta	Aorta
7	chr22:31482000-31497800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr22:31482000-31497800	Weak transcription	Hela-S3	cervix
9	chr22:31482000-31500800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr22:31482000-31501000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr22:31482000-31501200	Weak transcription	Primary hematopoietic stem cells	blood
12	chr22:31482200-31498800	Strong transcription	Fetal Lung	lung
13	chr22:31482400-31494400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr22:31482400-31497800	Strong transcription	Muscle Satellite Cultured Cells	--
15	chr22:31482800-31497800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr22:31482800-31497800	Strong transcription	Osteobl	bone
17	chr22:31483000-31494400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr22:31483000-31498600	Strong transcription	Thymus	Thymus
19	chr22:31483200-31497800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr22:31483200-31497800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr22:31483200-31500600	Strong transcription	HUVEC	blood vessel
22	chr22:31483200-31502000	Strong transcription	NHEK	skin
23	chr22:31483600-31497400	Strong transcription	Sigmoid Colon	Sigmoid Colon
24	chr22:31483600-31497800	Strong transcription	HMEC	breast
25	chr22:31483800-31497400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr22:31483800-31499600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr22:31484000-31498600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr22:31484000-31502600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr22:31484400-31499200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr22:31484600-31494400	Strong transcription	Rectal Mucosa Donor 31	rectum
31	chr22:31485200-31500800	Weak transcription	Fetal Thymus	thymus
32	chr22:31485200-31503000	Weak transcription	Fetal Kidney	kidney
33	chr22:31485400-31498000	Strong transcription	Adipose Nuclei	Adipose
34	chr22:31485400-31500000	Strong transcription	Pancreas	Pancrea
35	chr22:31485800-31494400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr22:31485800-31502800	Weak transcription	GM12878-XiMat	blood
37	chr22:31486000-31494800	Weak transcription	Primary B cells from cord blood	blood
38	chr22:31486600-31494600	Transcr. at gene 5' and 3'	Colon Smooth Muscle	Colon
39	chr22:31486800-31498600	Strong transcription	Primary neutrophils fromperipheralblood	blood
40	chr22:31487400-31497800	Strong transcription	NH-A	brain
41	chr22:31488400-31500400	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr22:31488800-31495000	Strong transcription	Placenta	Placenta
43	chr22:31489000-31500000	Weak transcription	Primary T cells from cord blood	blood
44	chr22:31489200-31498200	Weak transcription	A549	lung
45	chr22:31489200-31501400	Strong transcription	Gastric	stomach
46	chr22:31489600-31501600	Weak transcription	Brain Angular Gyrus	brain
47	chr22:31489800-31494600	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr22:31490200-31497200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
49	chr22:31490400-31494400	Strong transcription	HSMM	muscle
50	chr22:31490400-31495800	Genic enhancers	Right Ventricle	heart

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