Variant report

Variant	rs12988612
Chromosome Location	chr2:30595765-30595766
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:30574396..30577189-chr2:30593038..30595856,2	K562	blood:
2	chr2:30453443..30455973-chr2:30592858..30597283,4	K562	blood:

Variant related genes	Relation type
ENSG00000213626	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1252614	0.87[EUR][1000 genomes]
rs1252615	0.86[EUR][1000 genomes]
rs56082933	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56185028	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6741397	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73925153	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs7576009	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7578449	0.88[CEU][hapmap];1.00[GIH][hapmap];0.88[TSI][hapmap];0.89[EUR][1000 genomes]
rs7579095	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs829586	0.88[EUR][1000 genomes]
rs829587	0.88[EUR][1000 genomes]
rs829608	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533886	chr2:30130019-31068764	ZNF genes & repeats Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv833648	chr2:30505882-30696275	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv873769	chr2:30585638-30625264	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	esv1010639	chr2:30593100-30598411	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:30585600-30605800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:30588400-30597800	Enhancers	NHDF-Ad	bronchial
3	chr2:30589800-30595800	Weak transcription	Stomach Smooth Muscle	stomach
4	chr2:30591600-30596600	Weak transcription	NH-A	brain
5	chr2:30591600-30596800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr2:30591600-30596800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr2:30591600-30597000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr2:30592200-30597400	Weak transcription	Spleen	Spleen
9	chr2:30593000-30601000	Weak transcription	Pancreas	Pancrea
10	chr2:30594200-30596800	Weak transcription	Fetal Thymus	thymus
11	chr2:30594200-30597200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr2:30594400-30597600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr2:30594600-30597600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr2:30594600-30597600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr2:30594600-30597600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr2:30594600-30597600	Enhancers	Muscle Satellite Cultured Cells	--
17	chr2:30594600-30597600	Enhancers	Osteobl	bone
18	chr2:30594800-30597800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr2:30595200-30595800	Enhancers	Aorta	Aorta
20	chr2:30595200-30596800	Weak transcription	Fetal Kidney	kidney
21	chr2:30595200-30596800	Weak transcription	NHLF	lung
22	chr2:30595400-30596600	Weak transcription	Fetal Heart	heart
23	chr2:30595400-30596800	Weak transcription	HSMMtube	muscle

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