Variant report

Variant	rs12112784
Chromosome Location	chr7:83671201-83671202
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs17158500	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17158505	0.91[CEU][hapmap];0.92[CHB][hapmap];0.86[CHD][hapmap];0.83[GIH][hapmap];0.95[JPT][hapmap];0.85[LWK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3779439	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3779440	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1020784	chr7:83577402-83687108	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
2	nsv888623	chr7:83596683-83687622	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
3	nsv888624	chr7:83596683-83698177	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv888625	chr7:83616528-83687622	Flanking Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
5	esv3352967	chr7:83626144-83684599	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv888626	chr7:83651854-83698177	Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv888627	chr7:83659577-83708238	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv888628	chr7:83659577-83722691	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
9	esv3328962	chr7:83671200-83671323	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	inside rSNPs	n/a

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:83610200-83673000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr7:83652200-83680200	Weak transcription	Stomach Smooth Muscle	stomach
3	chr7:83652400-83671400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr7:83655400-83671400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr7:83655400-83671600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr7:83655600-83673200	Weak transcription	Rectal Smooth Muscle	rectum
7	chr7:83666600-83672800	Weak transcription	Colon Smooth Muscle	Colon
8	chr7:83667600-83672800	Weak transcription	Fetal Lung	lung
9	chr7:83668000-83672800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr7:83668400-83674200	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr7:83668400-83676000	Weak transcription	Fetal Muscle Leg	muscle
12	chr7:83668800-83672000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr7:83669200-83671800	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr7:83669400-83674800	Enhancers	HepG2	liver
15	chr7:83669600-83672000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr7:83669800-83671400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr7:83669800-83673800	Weak transcription	Brain Germinal Matrix	brain
18	chr7:83670000-83671600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr7:83670200-83671400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr7:83670200-83671400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr7:83670200-83673000	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr7:83670200-83673000	Weak transcription	Brain Angular Gyrus	brain
23	chr7:83670200-83685000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr7:83670800-83671400	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr7:83670800-83671600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr7:83671000-83671400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr7:83671000-83671400	Enhancers	Muscle Satellite Cultured Cells	--
28	chr7:83671000-83671400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr7:83671000-83671400	Enhancers	A549	lung
30	chr7:83671000-83672200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr7:83671000-83672400	Enhancers	NH-A	brain
32	chr7:83671000-83673200	Enhancers	Hela-S3	cervix
33	chr7:83671000-83673200	Enhancers	NHDF-Ad	bronchial
34	chr7:83671000-83673800	Enhancers	Osteobl	bone
35	chr7:83671200-83671600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr7:83671200-83671800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr7:83671200-83671800	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr7:83671200-83671800	Enhancers	Stomach Mucosa	stomach
39	chr7:83671200-83672000	Enhancers	Brain Cingulate Gyrus	brain
40	chr7:83671200-83672200	Enhancers	NHEK	skin
41	chr7:83671200-83672200	Enhancers	NHLF	lung
42	chr7:83671200-83672400	Enhancers	HUVEC	blood vessel
43	chr7:83671200-83673400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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