Variant report

Variant	rs1707247
Chromosome Location	chr1:211591135-211591136
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10732682	0.92[EUR][1000 genomes]
rs10746434	0.82[EUR][1000 genomes]
rs10779554	0.92[EUR][1000 genomes]
rs1084977	0.82[AMR][1000 genomes]
rs1084982	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1084983	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1084986	0.89[EUR][1000 genomes]
rs10863886	0.92[EUR][1000 genomes]
rs10863887	0.92[EUR][1000 genomes]
rs11804635	0.92[EUR][1000 genomes]
rs1533219	0.88[EUR][1000 genomes]
rs1533220	0.82[YRI][hapmap];1.00[EUR][1000 genomes]
rs1663521	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1707252	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1707266	1.00[EUR][1000 genomes]
rs1707267	0.92[EUR][1000 genomes]
rs1877476	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1983259	0.92[EUR][1000 genomes]
rs1983260	0.85[EUR][1000 genomes]
rs2358215	0.88[EUR][1000 genomes]
rs2588658	0.85[EUR][1000 genomes]
rs2995846	0.92[EUR][1000 genomes]
rs3123302	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3125840	0.85[EUR][1000 genomes]
rs3855878	0.92[EUR][1000 genomes]
rs4347268	0.92[EUR][1000 genomes]
rs4370817	0.92[EUR][1000 genomes]
rs4556425	0.92[EUR][1000 genomes]
rs4951517	0.92[EUR][1000 genomes]
rs4951735	0.92[EUR][1000 genomes]
rs4951737	0.92[EUR][1000 genomes]
rs4951738	0.88[EUR][1000 genomes]
rs4951739	0.92[EUR][1000 genomes]
rs4951740	0.88[EUR][1000 genomes]
rs6540675	0.92[EUR][1000 genomes]
rs6540676	0.92[EUR][1000 genomes]
rs6540678	0.92[EUR][1000 genomes]
rs6657779	0.85[EUR][1000 genomes]
rs6663627	0.92[EUR][1000 genomes]
rs6671526	0.92[EUR][1000 genomes]
rs6672233	0.92[EUR][1000 genomes]
rs6688682	0.92[EUR][1000 genomes]
rs6692815	0.92[EUR][1000 genomes]
rs73072839	0.94[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs7517135	0.92[EUR][1000 genomes]
rs7527620	0.92[EUR][1000 genomes]
rs784366	0.93[EUR][1000 genomes]
rs784367	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs784368	0.96[EUR][1000 genomes]
rs784370	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs784371	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs784373	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs784374	0.96[EUR][1000 genomes]
rs784375	0.96[EUR][1000 genomes]
rs784378	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs784380	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs784381	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs784387	0.92[EUR][1000 genomes]
rs784388	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][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:45 , 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	chr1:211590400-211591200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr1:211590400-211591200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr1:211590400-211591200	Enhancers	Primary T helper cells fromperipheralblood	blood
9	chr1:211590400-211591200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr1:211590400-211591400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
11	chr1:211590400-211592200	Weak transcription	Spleen	Spleen
12	chr1:211590400-211592600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr1:211590400-211593600	Weak transcription	Hela-S3	cervix
14	chr1:211590400-211593600	Weak transcription	HSMM	muscle
15	chr1:211590400-211593800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr1:211590400-211604400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr1:211590400-211607200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr1:211590400-211607600	Weak transcription	Left Ventricle	heart
19	chr1:211590400-211609000	Weak transcription	Primary B cells from cord blood	blood
20	chr1:211590600-211591200	Enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr1:211590600-211591200	Enhancers	Osteobl	bone
22	chr1:211590600-211591800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr1:211590600-211591800	Weak transcription	Pancreas	Pancrea
24	chr1:211590600-211593600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr1:211590600-211602400	Weak transcription	Liver	Liver
26	chr1:211590600-211605600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr1:211590800-211591200	Enhancers	Primary T helper cells PMA-I stimulated	--
28	chr1:211590800-211591200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
29	chr1:211590800-211591200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr1:211590800-211591200	Enhancers	Fetal Intestine Large	intestine
31	chr1:211590800-211593600	Weak transcription	HSMMtube	muscle
32	chr1:211590800-211593800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr1:211591000-211591200	Active TSS	ES-I3 Cell Line	embryonic stem cell
34	chr1:211591000-211591200	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
35	chr1:211591000-211591200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr1:211591000-211593600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr1:211591000-211593800	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr1:211591000-211593800	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr1:211591000-211593800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr1:211591000-211593800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr1:211591000-211593800	Weak transcription	NH-A	brain
42	chr1:211591000-211593800	Weak transcription	NHLF	lung
43	chr1:211591000-211594000	Weak transcription	NHDF-Ad	bronchial
44	chr1:211591000-211594200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr1:211591000-211607400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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