Variant report

Variant	rs895952
Chromosome Location	chr12:122248582-122248583
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:122127725..122130645-chr12:122248269..122249908,2	MCF-7	breast:
2	chr12:122247207..122249195-chr12:122326533..122328420,2	K562	blood:
3	chr12:122063951..122065995-chr12:122247788..122250462,2	K562	blood:
4	chr12:122248261..122250209-chr12:122294921..122296853,2	MCF-7	breast:
5	chr12:122148543..122152154-chr12:122247522..122251412,4	MCF-7	breast:
6	chr12:122248304..122251064-chr12:132568953..132570962,2	MCF-7	breast:
7	chr12:122219428..122221615-chr12:122247331..122249175,2	K562	blood:
8	chr12:122202998..122205490-chr12:122248231..122250128,2	K562	blood:
9	chr12:122247695..122252163-chr12:122325172..122328033,7	K562	blood:
10	chr12:122248283..122252969-chr12:122325592..122328736,7	MCF-7	breast:
11	chr12:120729818..120731411-chr12:122247604..122250047,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000200795	Chromatin interaction
ENSG00000182500	Chromatin interaction
ENSG00000158104	Chromatin interaction
ENSG00000256950	Chromatin interaction
ENSG00000110801	Chromatin interaction
ENSG00000188735	Chromatin interaction
ENSG00000185684	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1004390	0.91[EUR][1000 genomes]
rs11043202	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11043203	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11043207	0.80[EUR][1000 genomes]
rs1168663	0.88[EUR][1000 genomes]
rs1168664	0.92[EUR][1000 genomes]
rs1168665	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1168666	0.94[EUR][1000 genomes]
rs1168668	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1168669	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1168671	0.92[EUR][1000 genomes]
rs1168672	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1168673	0.92[EUR][1000 genomes]
rs12307227	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12313997	0.89[ASN][1000 genomes]
rs12314801	0.89[ASN][1000 genomes]
rs12820413	0.82[ASN][1000 genomes]
rs12823194	0.85[EUR][1000 genomes]
rs1667578	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1667579	0.92[EUR][1000 genomes]
rs1795965	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1795966	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2019561	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2019562	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2122266	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2707057	0.82[ASN][1000 genomes]
rs2707066	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2707067	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs712852	0.89[EUR][1000 genomes]
rs7957564	0.91[EUR][1000 genomes]
rs7974348	0.92[EUR][1000 genomes]
rs895951	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs895953	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs895954	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs895957	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs921286	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs921287	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs921288	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs930665	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
2	nsv899566	chr12:122167095-122265106	Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	97 gene(s)	inside rSNPs	diseases
3	nsv899567	chr12:122203680-122281575	Enhancers Genic enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
4	nsv984477	chr12:122226309-122271532	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
5	nsv911	chr12:122234524-122279425	Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
6	nsv916686	chr12:122240149-122714056	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122241600-122248600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr12:122243800-122251600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr12:122244400-122249200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr12:122244800-122249200	Weak transcription	Psoas Muscle	Psoas
5	chr12:122245000-122248800	Genic enhancers	Primary T cells fromperipheralblood	blood
6	chr12:122245000-122248800	Weak transcription	Fetal Kidney	kidney
7	chr12:122245200-122248600	Strong transcription	Sigmoid Colon	Sigmoid Colon
8	chr12:122245200-122248600	Weak transcription	NHDF-Ad	bronchial
9	chr12:122245200-122249000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr12:122245400-122248600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr12:122245400-122248600	Strong transcription	Fetal Lung	lung
12	chr12:122245400-122248800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr12:122245400-122248800	Strong transcription	HUES48 Cell Line	embryonic stem cell
14	chr12:122245400-122249600	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr12:122245600-122248600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr12:122245600-122248600	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr12:122245600-122248600	Strong transcription	NHEK	skin
18	chr12:122245600-122248800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr12:122245600-122248800	Weak transcription	HepG2	liver
20	chr12:122245600-122248800	Strong transcription	Osteobl	bone
21	chr12:122245600-122249000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr12:122245800-122248600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr12:122245800-122248600	Strong transcription	Brain Inferior Temporal Lobe	brain
24	chr12:122245800-122248600	Strong transcription	Fetal Intestine Large	intestine
25	chr12:122245800-122248600	Genic enhancers	Fetal Thymus	thymus
26	chr12:122245800-122248800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr12:122245800-122248800	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr12:122245800-122248800	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
29	chr12:122245800-122248800	Strong transcription	Brain Substantia Nigra	brain
30	chr12:122245800-122248800	Strong transcription	Rectal Mucosa Donor 31	rectum
31	chr12:122245800-122249000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr12:122246000-122248600	Strong transcription	iPS-15b Cell Line	embryonic stem cell
33	chr12:122246000-122248600	Genic enhancers	Primary T helper cells fromperipheralblood	blood
34	chr12:122246000-122248600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr12:122246000-122248600	Strong transcription	Lung	lung
36	chr12:122246000-122248800	Strong transcription	HUES6 Cell Line	embryonic stem cell
37	chr12:122246000-122248800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
38	chr12:122246000-122248800	Strong transcription	Aorta	Aorta
39	chr12:122246000-122248800	Strong transcription	Brain Hippocampus Middle	brain
40	chr12:122246000-122248800	Strong transcription	Ovary	ovary
41	chr12:122246000-122249000	Genic enhancers	Liver	Liver
42	chr12:122246200-122248600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
43	chr12:122246200-122248600	Strong transcription	Rectal Mucosa Donor 29	rectum
44	chr12:122246200-122248600	Strong transcription	Rectal Smooth Muscle	rectum
45	chr12:122246200-122248800	Strong transcription	Muscle Satellite Cultured Cells	--
46	chr12:122246200-122249000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr12:122246200-122249000	Strong transcription	Brain Anterior Caudate	brain
48	chr12:122246200-122249000	Strong transcription	Placenta Amnion	Placenta Amnion
49	chr12:122246400-122248800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr12:122246400-122249000	Strong transcription	Brain Angular Gyrus	brain

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