Variant report

Variant	rs12635422
Chromosome Location	chr3:156504519-156504520
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:156503620..156506032-chr3:156837954..156840511,2	K562	blood:
2	chr3:156498434..156501596-chr3:156502537..156507306,7	K562	blood:
3	chr3:156503226..156505868-chr3:156506509..156508157,2	MCF-7	breast:
4	chr3:156392412..156394837-chr3:156503961..156505625,2	K562	blood:
5	chr3:156503240..156505818-chr3:156509011..156511124,2	K562	blood:
6	chr3:156497858..156501596-chr3:156502537..156507306,7	K562	blood:

Variant related genes	Relation type
ENSG00000163659	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs12632784	1.00[EUR][1000 genomes]
rs12634572	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4377450	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4377451	0.85[AMR][1000 genomes]
rs57684115	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58324366	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59239896	0.83[EUR][1000 genomes]
rs59899313	0.83[EUR][1000 genomes]
rs60940077	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs60983118	1.00[EUR][1000 genomes]
rs61702298	1.00[EUR][1000 genomes]
rs62277159	0.88[ASN][1000 genomes]
rs73013991	0.83[EUR][1000 genomes]
rs7609790	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428745	chr3:156405054-156577840	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv877685	chr3:156444383-156611676	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
3	nsv877686	chr3:156489509-156557697	Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:156494600-156510800	Weak transcription	Primary hematopoietic stem cells	blood
2	chr3:156499000-156507400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr3:156499600-156504600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr3:156500000-156505600	Enhancers	Muscle Satellite Cultured Cells	--
5	chr3:156500200-156508800	Enhancers	HMEC	breast
6	chr3:156500400-156510800	Weak transcription	Stomach Mucosa	stomach
7	chr3:156501000-156510800	Weak transcription	Gastric	stomach
8	chr3:156502000-156506600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr3:156502200-156504800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr3:156502200-156504800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr3:156502200-156505000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr3:156502200-156505000	Weak transcription	NH-A	brain
13	chr3:156502200-156507600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr3:156502400-156505000	Weak transcription	NHLF	lung
15	chr3:156502400-156505000	Weak transcription	Osteobl	bone
16	chr3:156502400-156505400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr3:156502400-156510600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr3:156502600-156505800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr3:156502600-156510800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr3:156502800-156504800	Weak transcription	HSMM	muscle
21	chr3:156502800-156509000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr3:156502800-156510800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr3:156502800-156510800	Weak transcription	Primary B cells from peripheral blood	blood
24	chr3:156502800-156528400	Weak transcription	Esophagus	oesophagus
25	chr3:156502800-156529000	Weak transcription	Liver	Liver
26	chr3:156503000-156507200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr3:156503200-156505600	Weak transcription	HUVEC	blood vessel
28	chr3:156503400-156505000	Weak transcription	Hela-S3	cervix
29	chr3:156504000-156506000	Genic enhancers	NHEK	skin
30	chr3:156504000-156507200	Enhancers	K562	blood
31	chr3:156504000-156507400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr3:156504000-156509200	Weak transcription	Stomach Smooth Muscle	stomach
33	chr3:156504200-156504800	Weak transcription	A549	lung
34	chr3:156504200-156505600	Enhancers	HSMMtube	muscle
35	chr3:156504200-156505800	Enhancers	NHDF-Ad	bronchial
36	chr3:156504200-156506200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr3:156504200-156508800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr3:156504200-156516400	Weak transcription	Primary B cells from cord blood	blood

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