Variant report

Variant	rs74138737
Chromosome Location	chr1:211591286-211591287
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs56114647	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58281296	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58282668	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58317460	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58393607	0.87[AFR][1000 genomes]
rs6684161	1.00[AMR][1000 genomes]
rs6698819	1.00[AMR][1000 genomes]
rs74137663	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74138736	0.91[AFR][1000 genomes]
rs7554670	0.90[AFR][1000 genomes];1.00[AMR][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:37 , 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	chr1:211590400-211591400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
7	chr1:211590400-211592200	Weak transcription	Spleen	Spleen
8	chr1:211590400-211592600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr1:211590400-211593600	Weak transcription	Hela-S3	cervix
10	chr1:211590400-211593600	Weak transcription	HSMM	muscle
11	chr1:211590400-211593800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr1:211590400-211604400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr1:211590400-211607200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr1:211590400-211607600	Weak transcription	Left Ventricle	heart
15	chr1:211590400-211609000	Weak transcription	Primary B cells from cord blood	blood
16	chr1:211590600-211591800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr1:211590600-211591800	Weak transcription	Pancreas	Pancrea
18	chr1:211590600-211593600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr1:211590600-211602400	Weak transcription	Liver	Liver
20	chr1:211590600-211605600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr1:211590800-211593600	Weak transcription	HSMMtube	muscle
22	chr1:211590800-211593800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr1:211591000-211593600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr1:211591000-211593800	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr1:211591000-211593800	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr1:211591000-211593800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr1:211591000-211593800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr1:211591000-211593800	Weak transcription	NH-A	brain
29	chr1:211591000-211593800	Weak transcription	NHLF	lung
30	chr1:211591000-211594000	Weak transcription	NHDF-Ad	bronchial
31	chr1:211591000-211594200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr1:211591000-211607400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr1:211591200-211593400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr1:211591200-211593400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr1:211591200-211593600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr1:211591200-211593600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr1:211591200-211593600	Weak transcription	Osteobl	bone

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