Variant report

Variant	rs10127622
Chromosome Location	chr1:151468060-151468061
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:151467596..151470891-chr1:151470893..151474724,4	MCF-7	breast:
2	chr1:151465693..151469281-chr1:151809820..151814205,4	MCF-7	breast:
3	chr1:151467989..151469567-chr1:151479920..151481677,2	MCF-7	breast:
4	1:151411623-151426875..1:151468043-151473267	Hela-S3	cervix:
5	chr1:151430347..151433120-chr1:151465110..151469553,7	MCF-7	breast:
6	chr1:151463912..151470062-chr1:151482602..151487656,8	MCF-7	breast:
7	chr1:151436059..151438699-chr1:151467400..151469749,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000143442	Chromatin interaction
ENSG00000143375	Chromatin interaction
ENSG00000225556	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs1009289	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10788807	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10788808	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10888416	0.85[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs10888418	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10888419	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11204827	0.82[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs11204828	0.82[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs11204834	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11204835	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11204837	0.89[AMR][1000 genomes]
rs11204838	0.89[CEU][hapmap];0.82[CHB][hapmap];0.88[JPT][hapmap];0.84[AMR][1000 genomes]
rs11204839	0.84[AMR][1000 genomes]
rs11583133	0.89[AMR][1000 genomes]
rs11590129	0.84[ASN][1000 genomes]
rs11801161	0.90[JPT][hapmap]
rs12026585	0.92[EUR][1000 genomes]
rs12032983	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12037100	0.92[EUR][1000 genomes]
rs12118440	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12128578	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12730114	0.89[AMR][1000 genomes]
rs1547832	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1573129	0.89[CEU][hapmap];0.82[CHB][hapmap];0.88[JPT][hapmap]
rs1573130	0.89[CEU][hapmap];0.82[CHB][hapmap];0.88[JPT][hapmap]
rs2211435	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2298167	0.89[CEU][hapmap];0.82[CHB][hapmap];0.88[JPT][hapmap]
rs2298168	0.89[CEU][hapmap];0.82[CHB][hapmap];0.88[JPT][hapmap];0.82[AMR][1000 genomes]
rs2337359	0.89[CEU][hapmap];0.82[CHB][hapmap];0.88[JPT][hapmap]
rs2337364	0.83[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs2878950	0.89[JPT][hapmap]
rs35562327	0.92[ASN][1000 genomes]
rs4970954	0.91[ASN][1000 genomes]
rs4970955	0.91[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs4971042	0.84[JPT][hapmap]
rs61261719	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7355117	0.94[ASN][1000 genomes]
rs7548090	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7552458	0.89[CEU][hapmap];0.91[CHB][hapmap];0.88[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916272	chr1:150961809-151557253	Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	219 gene(s)	inside rSNPs	diseases
2	nsv831581	chr1:151289151-151478605	Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151459400-151468200	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr1:151465000-151471000	Weak transcription	K562	blood
3	chr1:151466400-151468400	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr1:151466400-151468400	Enhancers	Fetal Intestine Small	intestine
5	chr1:151466600-151468200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr1:151466600-151468600	Enhancers	Fetal Intestine Large	intestine
7	chr1:151467000-151468200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr1:151467000-151468200	Enhancers	Hela-S3	cervix
9	chr1:151467000-151468400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr1:151467000-151468400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr1:151467000-151468400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr1:151467000-151468400	Enhancers	Muscle Satellite Cultured Cells	--
13	chr1:151467000-151468600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr1:151467000-151468600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr1:151467000-151468600	Enhancers	Brain Substantia Nigra	brain
16	chr1:151467000-151468600	Enhancers	HUVEC	blood vessel
17	chr1:151467000-151468800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr1:151467000-151468800	Enhancers	Brain Inferior Temporal Lobe	brain
19	chr1:151467200-151468200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr1:151467200-151468200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr1:151467200-151468200	Enhancers	HSMM	muscle
22	chr1:151467200-151468200	Enhancers	HSMMtube	muscle
23	chr1:151467200-151468200	Enhancers	NH-A	brain
24	chr1:151467200-151468400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr1:151467200-151468400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr1:151467200-151468400	Enhancers	A549	lung
27	chr1:151467200-151468400	Enhancers	HepG2	liver
28	chr1:151467200-151468400	Enhancers	HMEC	breast
29	chr1:151467200-151468400	Enhancers	NHLF	lung
30	chr1:151467200-151468600	Enhancers	Brain Cingulate Gyrus	brain
31	chr1:151467200-151468600	Enhancers	Brain Hippocampus Middle	brain
32	chr1:151467200-151468600	Enhancers	NHEK	skin
33	chr1:151467400-151468200	Weak transcription	Lung	lung
34	chr1:151467400-151475200	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr1:151467600-151471000	Weak transcription	Duodenum Mucosa	Duodenum
36	chr1:151467800-151468600	Enhancers	Brain Anterior Caudate	brain
37	chr1:151468000-151474400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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