Variant report

Variant	rs11704901
Chromosome Location	chr22:31483934-31483935
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr22:31483767-31484230	HUVEC	blood vessel:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr22:31476077..31485695-chr22:31490616..31506508,29	K562	blood:
2	chr22:31354949..31372607-chr22:31475365..31485377,53	MCF-7	breast:
3	chr22:31482773..31485037-chr22:31624990..31627898,2	K562	blood:
4	chr22:31288265..31290834-chr22:31482128..31484552,2	K562	blood:
5	chr22:31482757..31485252-chr22:31500477..31503688,4	K562	blood:
6	chr22:31358868..31372302-chr22:31474097..31485545,64	MCF-7	breast:
7	chr22:31478816..31484481-chr22:31493390..31497944,7	MCF-7	breast:

No data

Variant related genes	Relation type
SMTN	TF binding region
ENSG00000273387	TF binding region
ENSG00000198832	Chromatin interaction
ENSG00000184792	Chromatin interaction
ENSG00000202019	Chromatin interaction
ENSG00000183963	Chromatin interaction
ENSG00000253352	Chromatin interaction
ENSG00000133422	Chromatin interaction

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

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

rs_ID	r²[population]
rs11702887	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11703298	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11703938	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11703987	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11704170	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11704373	0.92[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11704428	0.92[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11704577	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11704692	0.92[AMR][1000 genomes]
rs11704852	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11704907	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11704918	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11705035	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11705054	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11705064	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17822214	1.00[CHB][hapmap];0.85[AMR][1000 genomes]
rs35541583	1.00[AMR][1000 genomes];1.00[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:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31478400-31484000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr22:31478400-31484000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr22:31481000-31484800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr22:31481400-31494200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr22:31481400-31494600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr22:31481600-31484000	Transcr. at gene 5' and 3'	Breast Myoepithelial Primary Cells	Breast
7	chr22:31481600-31486400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr22:31481600-31487400	Genic enhancers	Fetal Muscle Trunk	muscle
9	chr22:31481600-31488200	Weak transcription	Psoas Muscle	Psoas
10	chr22:31481600-31491800	Weak transcription	Small Intestine	intestine
11	chr22:31481600-31493800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr22:31481800-31484000	Enhancers	Skeletal Muscle Female	skeletal muscle
13	chr22:31481800-31484400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr22:31481800-31485400	Genic enhancers	Fetal Muscle Leg	muscle
15	chr22:31481800-31486200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr22:31481800-31486800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr22:31481800-31486800	Weak transcription	Primary neutrophils fromperipheralblood	blood
18	chr22:31481800-31487200	Genic enhancers	Placenta	Placenta
19	chr22:31481800-31494400	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr22:31482000-31484800	Weak transcription	Primary monocytes fromperipheralblood	blood
21	chr22:31482000-31484800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr22:31482000-31485400	Weak transcription	Primary B cells from cord blood	blood
23	chr22:31482000-31486800	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr22:31482000-31487400	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr22:31482000-31487600	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr22:31482000-31488800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr22:31482000-31489600	Weak transcription	Fetal Brain Male	brain
28	chr22:31482000-31494600	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr22:31482000-31496200	Transcr. at gene 5' and 3'	Stomach Smooth Muscle	stomach
30	chr22:31482000-31497400	Strong transcription	Aorta	Aorta
31	chr22:31482000-31497800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr22:31482000-31497800	Weak transcription	Hela-S3	cervix
33	chr22:31482000-31500800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr22:31482000-31501000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr22:31482000-31501200	Weak transcription	Primary hematopoietic stem cells	blood
36	chr22:31482200-31484000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr22:31482200-31484000	Weak transcription	Fetal Thymus	thymus
38	chr22:31482200-31484000	Weak transcription	Pancreas	Pancrea
39	chr22:31482200-31484400	Weak transcription	Monocytes-CD14+_RO01746	blood
40	chr22:31482200-31484800	Weak transcription	Primary B cells from peripheral blood	blood
41	chr22:31482200-31485200	Weak transcription	Liver	Liver
42	chr22:31482200-31485600	Genic enhancers	Fetal Stomach	stomach
43	chr22:31482200-31498800	Strong transcription	Fetal Lung	lung
44	chr22:31482400-31485200	Weak transcription	Brain Substantia Nigra	brain
45	chr22:31482400-31485400	Weak transcription	GM12878-XiMat	blood
46	chr22:31482400-31488000	Weak transcription	Brain Cingulate Gyrus	brain
47	chr22:31482400-31494400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr22:31482400-31497800	Strong transcription	Muscle Satellite Cultured Cells	--
49	chr22:31482600-31484000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr22:31482600-31484200	Weak transcription	Fetal Heart	heart

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