Variant report

Variant	rs12740755
Chromosome Location	chr1:211591669-211591670
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:211591294..211593237-chr1:211594620..211596952,2	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11119741	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11576833	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11577134	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11579228	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11580728	0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12567023	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12569232	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12733930	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12739630	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12750157	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12758491	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17189000	0.84[AFR][1000 genomes]
rs34160213	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs34221813	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34418448	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34535031	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35014256	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35332498	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35699165	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35771425	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4320839	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55961005	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60555365	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61848984	0.81[AMR][1000 genomes]
rs72743233	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7554421	0.99[EUR][1000 genomes];1.00[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	esv3362349	chr1:211588754-211591702	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:36 , 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	chr1:211585400-211593200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr1:211589600-211608800	Weak transcription	GM12878-XiMat	blood
4	chr1:211590200-211593600	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr1:211590200-211601000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr1:211590400-211592200	Weak transcription	Spleen	Spleen
7	chr1:211590400-211592600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr1:211590400-211593600	Weak transcription	Hela-S3	cervix
9	chr1:211590400-211593600	Weak transcription	HSMM	muscle
10	chr1:211590400-211593800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr1:211590400-211604400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr1:211590400-211607200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr1:211590400-211607600	Weak transcription	Left Ventricle	heart
14	chr1:211590400-211609000	Weak transcription	Primary B cells from cord blood	blood
15	chr1:211590600-211591800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr1:211590600-211591800	Weak transcription	Pancreas	Pancrea
17	chr1:211590600-211593600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr1:211590600-211602400	Weak transcription	Liver	Liver
19	chr1:211590600-211605600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr1:211590800-211593600	Weak transcription	HSMMtube	muscle
21	chr1:211590800-211593800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr1:211591000-211593600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr1:211591000-211593800	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr1:211591000-211593800	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr1:211591000-211593800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr1:211591000-211593800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr1:211591000-211593800	Weak transcription	NH-A	brain
28	chr1:211591000-211593800	Weak transcription	NHLF	lung
29	chr1:211591000-211594000	Weak transcription	NHDF-Ad	bronchial
30	chr1:211591000-211594200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr1:211591000-211607400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr1:211591200-211593400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr1:211591200-211593400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr1:211591200-211593600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr1:211591200-211593600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr1:211591200-211593600	Weak transcription	Osteobl	bone

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