Variant report

Variant	rs12707345
Chromosome Location	chr7:136831401-136831402
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10488605	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10488606	1.00[JPT][hapmap]
rs11978828	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11982570	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1364716	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17168934	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17168947	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17168990	1.00[JPT][hapmap]
rs17169018	1.00[JPT][hapmap]
rs1839780	1.00[JPT][hapmap]
rs2017578	1.00[CHB][hapmap]
rs33914231	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35119148	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35655262	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35695483	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35825323	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs36110794	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36138744	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4338046	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs66483613	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs66709830	0.92[ASN][1000 genomes]
rs67751562	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6956523	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs706553	0.92[ASN][1000 genomes]
rs727185	1.00[JPT][hapmap]
rs73450814	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73450817	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7804134	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][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	nsv1029192	chr7:136433278-137147566	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	esv2753059	chr7:136633745-136893745	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv1028902	chr7:136727136-136858804	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv608462	chr7:136746607-136839390	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
5	nsv464730	chr7:136825522-136882925	Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv608463	chr7:136825522-136882925	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:136830000-136832000	Enhancers	Muscle Satellite Cultured Cells	--
2	chr7:136830200-136834000	Enhancers	Colon Smooth Muscle	Colon
3	chr7:136830200-136834400	Enhancers	Fetal Heart	heart
4	chr7:136830400-136832400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr7:136830400-136832400	Enhancers	HSMM	muscle
6	chr7:136830600-136831800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr7:136830600-136832400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr7:136830600-136833800	Enhancers	Fetal Stomach	stomach
9	chr7:136830800-136833000	Enhancers	HSMMtube	muscle
10	chr7:136830800-136834000	Enhancers	Placenta Amnion	Placenta Amnion
11	chr7:136831000-136831800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr7:136831000-136832000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr7:136831000-136833000	Enhancers	Rectal Smooth Muscle	rectum
14	chr7:136831200-136831600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr7:136831200-136831800	Flanking Active TSS	HMEC	breast
16	chr7:136831200-136831800	Active TSS	NHDF-Ad	bronchial
17	chr7:136831200-136832000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr7:136831200-136832000	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr7:136831200-136832000	Flanking Active TSS	Osteobl	bone
20	chr7:136831400-136831600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr7:136831400-136831600	Flanking Active TSS	NHLF	lung
22	chr7:136831400-136831800	Flanking Active TSS	NH-A	brain
23	chr7:136831400-136832200	Enhancers	Brain Germinal Matrix	brain
24	chr7:136831400-136832200	Enhancers	Fetal Kidney	kidney
25	chr7:136831400-136833200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

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