Variant report

Variant	rs12667200
Chromosome Location	chr7:65796278-65796279
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:65670276..65672118-chr7:65795106..65797667,2	K562	blood:

Variant related genes	Relation type
ENSG00000169902	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs1065265	0.87[ASN][1000 genomes]
rs10950035	0.92[ASN][1000 genomes]
rs10950036	0.91[ASN][1000 genomes]
rs11766183	0.87[ASN][1000 genomes]
rs11767262	0.92[ASN][1000 genomes]
rs11769702	0.83[ASN][1000 genomes]
rs11770063	0.90[ASN][1000 genomes]
rs12668269	0.90[ASN][1000 genomes]
rs12668859	0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs12670811	0.83[ASN][1000 genomes]
rs12671152	0.86[ASN][1000 genomes]
rs12672544	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs1547529	0.83[ASN][1000 genomes]
rs17138089	0.91[AMR][1000 genomes]
rs1909508	0.92[ASN][1000 genomes]
rs2173571	0.92[ASN][1000 genomes]
rs2279757	0.87[ASN][1000 genomes]
rs2420456	0.90[ASN][1000 genomes]
rs3936065	0.90[ASN][1000 genomes]
rs4718335	0.92[ASN][1000 genomes]
rs4718346	0.81[ASN][1000 genomes]
rs66594357	0.92[ASN][1000 genomes]
rs6969224	0.87[ASN][1000 genomes]
rs6970498	0.90[ASN][1000 genomes]
rs6979636	0.90[ASN][1000 genomes]
rs73146609	0.92[ASN][1000 genomes]
rs73148639	0.85[ASN][1000 genomes]
rs7783889	0.90[ASN][1000 genomes]
rs7785117	0.89[ASN][1000 genomes]
rs7801332	0.92[ASN][1000 genomes]
rs7811204	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532124	chr7:65371521-66234730	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	125 gene(s)	inside rSNPs	diseases
2	nsv1026559	chr7:65617368-66370805	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	116 gene(s)	inside rSNPs	diseases
3	nsv508458	chr7:65724222-65842639	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
4	nsv1034195	chr7:65743409-65828266	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:65786600-65797400	Weak transcription	HMEC	breast
2	chr7:65791800-65797600	Weak transcription	Liver	Liver
3	chr7:65791800-65797800	Weak transcription	HepG2	liver
4	chr7:65791800-65799600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr7:65791800-65800400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr7:65792200-65797200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr7:65792600-65799800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr7:65793000-65800200	Weak transcription	HSMM	muscle
9	chr7:65795200-65796600	Enhancers	Fetal Heart	heart
10	chr7:65795200-65797000	Enhancers	NHDF-Ad	bronchial
11	chr7:65795200-65797800	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr7:65795200-65798200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr7:65795600-65796400	Enhancers	Fetal Muscle Leg	muscle
14	chr7:65795600-65796400	Enhancers	Skeletal Muscle Male	skeletal muscle
15	chr7:65795600-65797000	Enhancers	Rectal Smooth Muscle	rectum
16	chr7:65795600-65797000	Enhancers	Osteobl	bone
17	chr7:65795600-65797200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr7:65795600-65797200	Enhancers	Colon Smooth Muscle	Colon
19	chr7:65795600-65797400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr7:65795800-65796400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr7:65795800-65796400	Enhancers	Brain Substantia Nigra	brain
22	chr7:65795800-65796400	Enhancers	Fetal Stomach	stomach
23	chr7:65795800-65796400	Enhancers	HSMMtube	muscle
24	chr7:65795800-65796600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr7:65795800-65796800	Enhancers	NHLF	lung
26	chr7:65795800-65797000	Enhancers	Ovary	ovary
27	chr7:65795800-65799200	Enhancers	Fetal Lung	lung
28	chr7:65796000-65796400	Enhancers	Brain Cingulate Gyrus	brain
29	chr7:65796000-65796800	Enhancers	Muscle Satellite Cultured Cells	--
30	chr7:65796200-65799800	Weak transcription	Pancreas	Pancrea
31	chr7:65796200-65801600	Weak transcription	Left Ventricle	heart
32	chr7:65796200-65809000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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