Variant report

Variant	rs11833781
Chromosome Location	chr12:25340002-25340003
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	chr12:25339080..25340582-chr12:25340786..25343717,2	MCF-7	breast:
2	chr12:25339039..25341718-chr12:25343903..25345457,2	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10400492	1.00[EUR][1000 genomes]
rs11047859	1.00[EUR][1000 genomes]
rs11047869	1.00[EUR][1000 genomes]
rs11047898	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11829456	1.00[EUR][1000 genomes]
rs11835872	1.00[EUR][1000 genomes]
rs12305513	0.82[AFR][1000 genomes]
rs12307064	1.00[EUR][1000 genomes]
rs12313763	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34164267	1.00[EUR][1000 genomes]
rs61759608	1.00[EUR][1000 genomes]
rs61759613	1.00[EUR][1000 genomes]
rs61759631	1.00[EUR][1000 genomes]
rs61761086	1.00[EUR][1000 genomes]
rs61761090	1.00[EUR][1000 genomes]
rs61761092	1.00[EUR][1000 genomes]
rs61761151	1.00[EUR][1000 genomes]
rs61762363	1.00[EUR][1000 genomes]
rs61764371	1.00[EUR][1000 genomes]
rs61764377	1.00[EUR][1000 genomes]
rs7304274	1.00[EUR][1000 genomes]
rs7953861	1.00[EUR][1000 genomes]
rs7972282	1.00[EUR][1000 genomes]
rs7978771	1.00[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	nsv469169	chr12:24692383-25357680	Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Weak transcription 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	34 gene(s)	inside rSNPs	diseases
2	nsv557775	chr12:24692383-25357680	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv932477	chr12:24705151-25346677	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	nsv1067577	chr12:24791283-25346677	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv529514	chr12:24791283-25346677	Enhancers Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
6	nsv515612	chr12:25272027-25341177	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	nsv557797	chr12:25272027-25341177	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
8	nsv898922	chr12:25274593-25408047	Genic enhancers Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:25339400-25340200	Flanking Active TSS	Primary T cells from cord blood	blood
2	chr12:25339400-25340200	Enhancers	Small Intestine	intestine
3	chr12:25339400-25340200	Flanking Active TSS	GM12878-XiMat	blood
4	chr12:25339400-25340200	Enhancers	HepG2	liver
5	chr12:25339400-25340400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
6	chr12:25339400-25340400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
7	chr12:25339400-25340400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
8	chr12:25339400-25340400	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr12:25339600-25340200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
10	chr12:25339600-25340200	Active TSS	Liver	Liver
11	chr12:25339600-25340200	Enhancers	Thymus	Thymus
12	chr12:25339600-25340400	Active TSS	Primary T cells fromperipheralblood	blood
13	chr12:25339600-25340400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
14	chr12:25339600-25340400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr12:25339600-25341000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr12:25339800-25340200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
17	chr12:25339800-25340200	Active TSS	Primary T helper naive cells fromperipheralblood	blood
18	chr12:25339800-25340200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
19	chr12:25339800-25340200	Flanking Active TSS	HMEC	breast
20	chr12:25339800-25340200	Flanking Active TSS	NHEK	skin
21	chr12:25339800-25343000	Enhancers	Osteobl	bone
22	chr12:25339800-25343200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr12:25340000-25340200	Active TSS	Primary T regulatory cells fromperipheralblood	blood
24	chr12:25340000-25340200	Active TSS	Primary T killer naive cells fromperipheralblood	blood
25	chr12:25340000-25340200	Active TSS	Primary T killer memory cells from peripheral blood	blood
26	chr12:25340000-25340200	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
27	chr12:25340000-25341000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr12:25340000-25341800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr12:25340000-25342800	Enhancers	NH-A	brain
30	chr12:25340000-25342800	Enhancers	NHDF-Ad	bronchial
31	chr12:25340000-25343000	Enhancers	Muscle Satellite Cultured Cells	--
32	chr12:25340000-25343000	Enhancers	NHLF	lung

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