Variant report

Variant	rs73181822
Chromosome Location	chr12:105647562-105647563
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:105646719..105649373-chr12:105657582..105659204,2	K562	blood:
2	chr12:105628268..105630407-chr12:105646094..105648967,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000136044	Chromatin interaction
ENSG00000235162	Chromatin interaction

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs10083185	0.89[EUR][1000 genomes]
rs10161513	1.00[ASN][1000 genomes]
rs11112381	0.89[EUR][1000 genomes]
rs11112389	0.88[EUR][1000 genomes]
rs11112410	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112452	1.00[ASN][1000 genomes]
rs11112522	1.00[ASN][1000 genomes]
rs11112526	1.00[ASN][1000 genomes]
rs11112530	1.00[ASN][1000 genomes]
rs11112531	1.00[ASN][1000 genomes]
rs11112532	1.00[ASN][1000 genomes]
rs11559871	0.88[EUR][1000 genomes]
rs11829598	0.89[EUR][1000 genomes]
rs12299366	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12299391	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12301914	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12304384	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12305766	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12307372	0.87[EUR][1000 genomes]
rs12308444	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12311156	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12312965	0.89[EUR][1000 genomes]
rs12317637	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12317804	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12321199	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12321518	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12321534	0.85[EUR][1000 genomes]
rs12424095	1.00[ASN][1000 genomes]
rs12424191	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12424709	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12425803	0.89[EUR][1000 genomes]
rs17037098	1.00[ASN][1000 genomes]
rs56284118	0.89[EUR][1000 genomes]
rs56862143	0.89[EUR][1000 genomes]
rs58780154	1.00[ASN][1000 genomes]
rs59320697	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59593474	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60835294	0.89[EUR][1000 genomes]
rs60999193	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7132816	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7133728	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7136270	1.00[ASN][1000 genomes]
rs7136306	1.00[ASN][1000 genomes]
rs7136453	0.89[EUR][1000 genomes]
rs7138574	0.87[EUR][1000 genomes]
rs7300130	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7302842	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7305406	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7306679	1.00[ASN][1000 genomes]
rs7313309	0.89[EUR][1000 genomes]
rs7315964	0.89[EUR][1000 genomes]
rs73179990	0.89[EUR][1000 genomes]
rs73179996	0.89[EUR][1000 genomes]
rs73179998	0.89[EUR][1000 genomes]
rs73180001	0.89[EUR][1000 genomes]
rs73181810	1.00[ASN][1000 genomes]
rs73181818	1.00[ASN][1000 genomes]
rs73181825	1.00[ASN][1000 genomes]
rs73181843	1.00[ASN][1000 genomes]
rs73181852	1.00[ASN][1000 genomes]
rs73181856	1.00[ASN][1000 genomes]
rs73181857	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73181869	1.00[ASN][1000 genomes]
rs7964184	0.89[EUR][1000 genomes]
rs7971630	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7975115	1.00[ASN][1000 genomes]
rs7975787	0.87[EUR][1000 genomes]
rs7978034	0.89[EUR][1000 genomes]
rs9971795	1.00[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	nsv455704	chr12:105583877-105651356	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
2	nsv560053	chr12:105583877-105651356	Genic enhancers Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
3	nsv899499	chr12:105616297-105722529	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105645800-105648200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr12:105646200-105647800	Enhancers	NHDF-Ad	bronchial
3	chr12:105646400-105647600	Weak transcription	Aorta	Aorta
4	chr12:105646400-105651000	Enhancers	Osteobl	bone
5	chr12:105646600-105647600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr12:105646800-105647600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr12:105647000-105647800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr12:105647000-105647800	Enhancers	HSMM	muscle
9	chr12:105647000-105648200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr12:105647000-105649600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr12:105647000-105650000	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr12:105647000-105652600	Enhancers	HSMMtube	muscle
13	chr12:105647000-105653400	Enhancers	NHLF	lung
14	chr12:105647200-105647600	Enhancers	Hela-S3	cervix
15	chr12:105647200-105647800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr12:105647200-105647800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr12:105647200-105647800	Enhancers	HMEC	breast
18	chr12:105647200-105647800	Enhancers	NHEK	skin
19	chr12:105647200-105651000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr12:105647200-105651800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr12:105647400-105647600	Enhancers	A549	lung
22	chr12:105647400-105647800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr12:105647400-105647800	Enhancers	NH-A	brain
24	chr12:105647400-105648000	Enhancers	Stomach Mucosa	stomach
25	chr12:105647400-105648000	Bivalent Enhancer	K562	blood
26	chr12:105647400-105648200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
27	chr12:105647400-105648200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr12:105647400-105648200	Enhancers	Gastric	stomach
29	chr12:105647400-105649400	Enhancers	HUVEC	blood vessel
30	chr12:105647400-105653400	Enhancers	Placenta Amnion	Placenta Amnion

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