Variant report

Variant	rs12080561
Chromosome Location	chr1:211593676-211593677
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:211592567..211595477-chr1:211598046..211600040,2	K562	blood:

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10458470	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10779551	0.84[EUR][1000 genomes]
rs10863885	0.84[EUR][1000 genomes]
rs11119714	0.84[EUR][1000 genomes]
rs11119717	0.84[EUR][1000 genomes]
rs11119720	0.84[EUR][1000 genomes]
rs11119725	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11119731	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11119733	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11119734	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11119737	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11119738	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11119740	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12027277	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12028306	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12030854	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12032988	1.00[EUR][1000 genomes]
rs12033418	0.96[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12035966	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12039683	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12039915	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12041794	0.84[EUR][1000 genomes]
rs12042216	0.84[EUR][1000 genomes]
rs12046975	0.84[EUR][1000 genomes]
rs12065190	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12085730	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12097572	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17017360	0.84[EUR][1000 genomes]
rs17017401	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2289758	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3738201	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3738202	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs57093875	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs58164259	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58510761	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs60169087	0.96[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs61624054	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7540368	0.81[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	esv2762141	chr1:211538685-211603843	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	n/a
2	esv1824154	chr1:211565640-211614280	Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	n/a
3	nsv945612	chr1:211593276-211615726	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:211581400-211608200	Weak transcription	Primary B cells from peripheral blood	blood
2	chr1:211589600-211608800	Weak transcription	GM12878-XiMat	blood
3	chr1:211590200-211601000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr1:211590400-211593800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr1:211590400-211604400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr1:211590400-211607200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr1:211590400-211607600	Weak transcription	Left Ventricle	heart
8	chr1:211590400-211609000	Weak transcription	Primary B cells from cord blood	blood
9	chr1:211590600-211602400	Weak transcription	Liver	Liver
10	chr1:211590600-211605600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr1:211590800-211593800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr1:211591000-211593800	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr1:211591000-211593800	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr1:211591000-211593800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr1:211591000-211593800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr1:211591000-211593800	Weak transcription	NH-A	brain
17	chr1:211591000-211593800	Weak transcription	NHLF	lung
18	chr1:211591000-211594000	Weak transcription	NHDF-Ad	bronchial
19	chr1:211591000-211594200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr1:211591000-211607400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr1:211592200-211605600	Weak transcription	Fetal Intestine Small	intestine
22	chr1:211593200-211594400	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr1:211593200-211594400	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr1:211593200-211594800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr1:211593400-211594800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr1:211593400-211594800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr1:211593400-211595400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr1:211593600-211593800	Enhancers	HSMMtube	muscle
29	chr1:211593600-211594000	Enhancers	K562	blood
30	chr1:211593600-211594600	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr1:211593600-211594600	Enhancers	iPS-20b Cell Line	embryonic stem cell
32	chr1:211593600-211594600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
33	chr1:211593600-211594800	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr1:211593600-211594800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr1:211593600-211594800	Enhancers	iPS-15b Cell Line	embryonic stem cell
36	chr1:211593600-211594800	Enhancers	Hela-S3	cervix
37	chr1:211593600-211594800	Enhancers	HSMM	muscle
38	chr1:211593600-211595000	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr1:211593600-211595000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr1:211593600-211595000	Enhancers	Osteobl	bone

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