Variant report

Variant	rs6581221
Chromosome Location	chr12:59254623-59254624
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10877172	0.86[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs10877174	0.94[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs10877176	0.93[EUR][1000 genomes]
rs10877178	0.90[EUR][1000 genomes]
rs10877179	0.93[EUR][1000 genomes]
rs11172757	0.96[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11172758	0.94[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs11172764	0.96[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11172769	0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs11172770	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11172772	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11172789	0.93[EUR][1000 genomes]
rs11514218	0.92[ASN][1000 genomes]
rs11533653	0.97[AFR][1000 genomes]
rs11534928	0.93[AMR][1000 genomes];0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12227707	0.93[EUR][1000 genomes]
rs12229019	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12367032	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56323549	0.94[AMR][1000 genomes];0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs59324351	0.94[AMR][1000 genomes];0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7305422	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7979355	0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758311	chr12:59022729-59323045	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	esv2759902	chr12:59022729-59323045	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv1043385	chr12:59149582-59758952	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv1067596	chr12:59167152-59764208	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	nsv492251	chr12:59167152-59764208	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
6	nsv899126	chr12:59199972-59255857	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv1038273	chr12:59232371-59259628	Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	esv3440532	chr12:59244734-59266539	Weak transcription Strong transcription Bivalent Enhancer Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region miRNA target site	1 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	chr12:59243000-59257600	Weak transcription	NH-A	brain
2	chr12:59243200-59263600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr12:59245200-59257400	Weak transcription	NHDF-Ad	bronchial
4	chr12:59245200-59260000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr12:59250200-59255400	Enhancers	Fetal Intestine Large	intestine
6	chr12:59250400-59257800	Weak transcription	Gastric	stomach
7	chr12:59251000-59266400	Weak transcription	Esophagus	oesophagus
8	chr12:59251200-59257800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr12:59251200-59261800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr12:59251400-59261400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr12:59251600-59256800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr12:59251800-59257600	Weak transcription	HMEC	breast
13	chr12:59251800-59263400	Weak transcription	NHEK	skin
14	chr12:59252000-59257000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr12:59252200-59259800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr12:59252800-59255000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr12:59253000-59270200	Weak transcription	Fetal Brain Male	brain
18	chr12:59253200-59255000	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
19	chr12:59253400-59257000	Enhancers	Fetal Intestine Small	intestine
20	chr12:59253400-59265400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr12:59253600-59254800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr12:59253600-59254800	Enhancers	Stomach Mucosa	stomach
23	chr12:59254000-59255400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
24	chr12:59254200-59254800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr12:59254200-59254800	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr12:59254200-59255400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
27	chr12:59254200-59255400	Enhancers	Pancreas	Pancrea
28	chr12:59254400-59254800	Enhancers	Spleen	Spleen
29	chr12:59254400-59260000	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr12:59254400-59261600	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr12:59254600-59254800	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
32	chr12:59254600-59254800	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
33	chr12:59254600-59254800	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
34	chr12:59254600-59255000	Enhancers	Cortex derived primary cultured neurospheres	brain
35	chr12:59254600-59255200	Enhancers	Duodenum Mucosa	Duodenum
36	chr12:59254600-59262000	Weak transcription	Osteobl	bone
37	chr12:59254600-59268600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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