Variant report

Variant	rs134656
Chromosome Location	chr22:29488162-29488163
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:29437866..29439720-chr22:29487851..29489925,2	MCF-7	breast:
2	chr22:29275445..29276268-chr22:29488136..29488887,2	MCF-7	breast:
3	chr22:29486627..29489970-chr22:29658706..29660641,3	K562	blood:
4	chr22:29486742..29489044-chr22:29491221..29492780,2	K562	blood:

Variant related genes	Relation type
ENSG00000100263	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs134649	0.83[CEU][hapmap]
rs134667	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs134674	1.00[CEU][hapmap];0.83[CHB][hapmap];0.95[JPT][hapmap];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2157394	0.86[EUR][1000 genomes]
rs4330194	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4330195	0.81[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs4820795	0.91[EUR][1000 genomes]
rs4823011	0.92[EUR][1000 genomes]
rs4823012	0.91[EUR][1000 genomes]
rs4823013	0.92[EUR][1000 genomes]
rs4823014	0.92[EUR][1000 genomes]
rs5752867	0.91[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs5752868	0.91[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs5762992	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs5762994	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs739210	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531586	chr22:29252132-29902266	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29472400-29489000	Weak transcription	Fetal Intestine Small	intestine
2	chr22:29475000-29489200	Weak transcription	Fetal Intestine Large	intestine
3	chr22:29475600-29491000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr22:29475600-29505600	Weak transcription	Spleen	Spleen
5	chr22:29476400-29489600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr22:29476600-29489400	Weak transcription	Psoas Muscle	Psoas
7	chr22:29476600-29491000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr22:29476800-29494800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr22:29478800-29489600	Weak transcription	Dnd41	blood
10	chr22:29478800-29490200	Weak transcription	Thymus	Thymus
11	chr22:29478800-29498200	Weak transcription	Brain Germinal Matrix	brain
12	chr22:29479600-29489200	Weak transcription	Fetal Kidney	kidney
13	chr22:29480600-29489600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr22:29480600-29498000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr22:29480800-29492400	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr22:29483400-29550200	Weak transcription	Rectal Smooth Muscle	rectum
17	chr22:29485800-29492200	Weak transcription	K562	blood
18	chr22:29486000-29489600	Weak transcription	Brain Angular Gyrus	brain
19	chr22:29486000-29489600	Weak transcription	Esophagus	oesophagus
20	chr22:29486000-29491000	Weak transcription	Colonic Mucosa	Colon
21	chr22:29486000-29492600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr22:29486200-29490800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr22:29486200-29491000	Weak transcription	Fetal Brain Female	brain
24	chr22:29486400-29488200	Weak transcription	Stomach Mucosa	stomach
25	chr22:29486400-29488200	Weak transcription	HepG2	liver
26	chr22:29486400-29489400	Weak transcription	Brain Cingulate Gyrus	brain
27	chr22:29486600-29494800	Weak transcription	NHEK	skin
28	chr22:29486600-29519000	Weak transcription	Fetal Brain Male	brain
29	chr22:29487000-29489400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr22:29487200-29489000	Enhancers	Fetal Muscle Trunk	muscle
31	chr22:29487200-29490200	Enhancers	Fetal Muscle Leg	muscle
32	chr22:29487400-29489200	Enhancers	NHDF-Ad	bronchial
33	chr22:29487400-29489600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr22:29487600-29488400	Enhancers	Brain Anterior Caudate	brain
35	chr22:29487600-29488800	Enhancers	NHLF	lung
36	chr22:29487600-29489400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr22:29487600-29489800	Enhancers	Rectal Mucosa Donor 29	rectum
38	chr22:29487600-29490200	Enhancers	Fetal Stomach	stomach
39	chr22:29487600-29490400	Enhancers	Skeletal Muscle Female	skeletal muscle
40	chr22:29487600-29491000	Enhancers	Fetal Lung	lung
41	chr22:29487600-29491000	Enhancers	Ovary	ovary
42	chr22:29487800-29488400	Enhancers	Lung	lung
43	chr22:29487800-29488600	Enhancers	Brain Hippocampus Middle	brain
44	chr22:29487800-29488600	Enhancers	Left Ventricle	heart
45	chr22:29487800-29488800	Enhancers	Pancreas	Pancrea
46	chr22:29487800-29488800	Enhancers	Right Atrium	heart
47	chr22:29487800-29490400	Enhancers	Liver	Liver
48	chr22:29487800-29490400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
49	chr22:29488000-29488200	Weak transcription	Adipose Nuclei	Adipose
50	chr22:29488000-29488400	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood

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