Variant report

Variant	rs4964344
Chromosome Location	chr12:105651356-105651357
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10778371	1.00[CEU][hapmap];0.87[CHB][hapmap];0.91[JPT][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1196781	0.83[GIH][hapmap]
rs1196788	0.83[GIH][hapmap]
rs2374448	0.83[GIH][hapmap]
rs4964127	0.88[ASN][1000 genomes]
rs4964345	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4964350	0.86[ASN][1000 genomes]
rs6419391	0.84[ASN][1000 genomes]
rs6539197	0.99[ASN][1000 genomes]
rs6539201	0.91[CHB][hapmap];0.84[JPT][hapmap]
rs7300300	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7358662	0.91[CHB][hapmap];0.93[CHD][hapmap];0.86[JPT][hapmap];0.81[ASN][1000 genomes]
rs7959327	0.86[ASN][1000 genomes]
rs7969800	0.89[ASN][1000 genomes]
rs7970588	0.81[ASN][1000 genomes]
rs7970719	0.91[CHB][hapmap];0.95[CHD][hapmap];0.85[JPT][hapmap];0.81[ASN][1000 genomes]
rs7974354	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7974694	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7978648	0.83[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];0.93[TSI][hapmap];0.96[YRI][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[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:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105647000-105652600	Enhancers	HSMMtube	muscle
2	chr12:105647000-105653400	Enhancers	NHLF	lung
3	chr12:105647200-105651800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr12:105647400-105653400	Enhancers	Placenta Amnion	Placenta Amnion
5	chr12:105648200-105651800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr12:105648200-105651800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr12:105648200-105652000	Enhancers	HMEC	breast
8	chr12:105648200-105653000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr12:105648200-105653800	Enhancers	NHDF-Ad	bronchial
10	chr12:105648200-105657400	Weak transcription	Esophagus	oesophagus
11	chr12:105648800-105651800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr12:105648800-105651800	Enhancers	NHEK	skin
13	chr12:105648800-105652800	Enhancers	HSMM	muscle
14	chr12:105649800-105651800	Enhancers	Aorta	Aorta
15	chr12:105650000-105651400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr12:105650000-105651800	Enhancers	Hela-S3	cervix
17	chr12:105651000-105651400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr12:105651000-105651600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr12:105651000-105651600	Flanking Active TSS	A549	lung
20	chr12:105651000-105651800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
21	chr12:105651000-105651800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr12:105651000-105651800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr12:105651000-105651800	Enhancers	HUVEC	blood vessel
24	chr12:105651000-105651800	Flanking Active TSS	NH-A	brain
25	chr12:105651000-105651800	Flanking Active TSS	Osteobl	bone
26	chr12:105651000-105652000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr12:105651000-105652000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr12:105651200-105652800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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