Variant report

Variant	rs12691187
Chromosome Location	chr2:62804436-62804437
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:62803038..62805318-chr2:62807553..62809617,2	K562	blood:
2	chr2:62801914..62804670-chr2:62805943..62809053,3	K562	blood:
3	chr2:62796756..62798416-chr2:62803232..62804863,2	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1014119	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10183859	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1021268	0.87[ASN][1000 genomes]
rs10221574	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12713463	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12713465	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13386935	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13396557	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13422188	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1527965	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1527966	0.80[ASN][1000 genomes]
rs1527967	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1601674	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1872788	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1906200	1.00[AFR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1906201	0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1906202	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4271755	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4502392	0.80[EUR][1000 genomes]
rs4671429	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4671432	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6753844	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7603495	0.83[EUR][1000 genomes]
rs901530	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9636442	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9677313	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv535766	chr2:62177655-62929746	Bivalent/Poised TSS Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv916190	chr2:62233785-63006200	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv932487	chr2:62258290-63006200	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
4	nsv535767	chr2:62461582-63413596	Bivalent Enhancer Strong transcription Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
5	nsv834226	chr2:62745027-62894013	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	esv3336776	chr2:62747914-62813461	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv874232	chr2:62758044-62906084	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
8	nsv834237	chr2:62762743-62926036	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:62798600-62805200	Weak transcription	Brain Anterior Caudate	brain
2	chr2:62798600-62818400	Weak transcription	Esophagus	oesophagus
3	chr2:62798800-62804600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr2:62800800-62804600	Weak transcription	NH-A	brain
5	chr2:62801400-62806000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr2:62802400-62805000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr2:62802400-62807200	Enhancers	HepG2	liver
8	chr2:62802800-62804800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr2:62802800-62806600	Enhancers	NHDF-Ad	bronchial
10	chr2:62802800-62807400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr2:62802800-62807800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr2:62803000-62806400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr2:62803200-62805000	Weak transcription	HSMMtube	muscle
14	chr2:62803400-62804600	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr2:62803400-62805000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr2:62803400-62805600	Enhancers	NHEK	skin
17	chr2:62803400-62805800	Enhancers	HMEC	breast
18	chr2:62803400-62805800	Enhancers	Osteobl	bone
19	chr2:62803400-62807800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr2:62803600-62805200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr2:62803600-62805600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr2:62803800-62804800	Enhancers	A549	lung
23	chr2:62803800-62805000	Enhancers	Muscle Satellite Cultured Cells	--
24	chr2:62803800-62805000	Weak transcription	Adipose Nuclei	Adipose
25	chr2:62803800-62807600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr2:62804000-62805000	Weak transcription	Rectal Smooth Muscle	rectum
27	chr2:62804000-62805000	Weak transcription	NHLF	lung
28	chr2:62804000-62805200	Weak transcription	Stomach Smooth Muscle	stomach
29	chr2:62804000-62805400	Weak transcription	Colon Smooth Muscle	Colon
30	chr2:62804000-62806000	Weak transcription	Ovary	ovary
31	chr2:62804200-62805600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr2:62804400-62804600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr2:62804400-62804600	Enhancers	Pancreas	Pancrea
34	chr2:62804400-62806000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr2:62804400-62808000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

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