Variant report

Variant	rs2667963
Chromosome Location	chr1:220418634-220418635
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1033107	0.85[AMR][1000 genomes]
rs10495144	1.00[AMR][1000 genomes]
rs10863535	0.85[AMR][1000 genomes]
rs11118502	0.85[AMR][1000 genomes]
rs11118505	0.85[AMR][1000 genomes]
rs12066759	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12070983	0.85[AMR][1000 genomes]
rs2491268	1.00[AMR][1000 genomes]
rs2667960	1.00[AMR][1000 genomes]
rs2667961	1.00[AMR][1000 genomes]
rs2667962	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2789791	0.85[AMR][1000 genomes]
rs2808010	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2808017	1.00[AMR][1000 genomes]
rs2814493	0.85[AMR][1000 genomes]
rs4445474	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9431233	0.82[AFR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv4643	chr1:220397642-220442231	Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:220379200-220422600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr1:220381200-220422000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr1:220384200-220420600	Weak transcription	Fetal Kidney	kidney
4	chr1:220384200-220423000	Weak transcription	Esophagus	oesophagus
5	chr1:220384200-220425800	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr1:220385400-220419400	Weak transcription	HUVEC	blood vessel
7	chr1:220393000-220441000	Weak transcription	NHDF-Ad	bronchial
8	chr1:220393800-220425800	Weak transcription	Gastric	stomach
9	chr1:220394000-220422600	Weak transcription	Thymus	Thymus
10	chr1:220398400-220420400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr1:220400400-220423000	Weak transcription	Pancreas	Pancrea
12	chr1:220400600-220422200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr1:220400800-220422200	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr1:220401000-220425200	Weak transcription	Right Ventricle	heart
15	chr1:220401200-220422800	Weak transcription	Rectal Smooth Muscle	rectum
16	chr1:220401400-220420600	Weak transcription	Fetal Intestine Small	intestine
17	chr1:220401400-220422600	Weak transcription	Fetal Stomach	stomach
18	chr1:220401400-220422600	Weak transcription	Left Ventricle	heart
19	chr1:220401600-220425800	Weak transcription	Stomach Smooth Muscle	stomach
20	chr1:220402200-220420800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr1:220403800-220423000	Weak transcription	Lung	lung
22	chr1:220404000-220425000	Weak transcription	NHLF	lung
23	chr1:220404600-220420800	Weak transcription	NHEK	skin
24	chr1:220405400-220420800	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr1:220405800-220420600	Weak transcription	HSMM	muscle
26	chr1:220405800-220422800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr1:220405800-220423000	Weak transcription	Aorta	Aorta
28	chr1:220406000-220422000	Weak transcription	Liver	Liver
29	chr1:220406000-220422000	Weak transcription	HepG2	liver
30	chr1:220406000-220422200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr1:220406000-220422600	Weak transcription	Fetal Thymus	thymus
32	chr1:220406000-220425200	Weak transcription	HSMMtube	muscle
33	chr1:220406200-220420200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr1:220406200-220420400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr1:220406200-220420400	Weak transcription	Primary B cells from cord blood	blood
36	chr1:220406200-220420400	Weak transcription	Primary T cells fromperipheralblood	blood
37	chr1:220406200-220420400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr1:220406200-220420600	Weak transcription	Fetal Lung	lung
39	chr1:220406200-220422000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr1:220406200-220422000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr1:220406200-220423400	Weak transcription	Osteobl	bone
42	chr1:220406400-220420400	Weak transcription	Primary hematopoietic stem cells	blood
43	chr1:220406400-220420800	Weak transcription	Monocytes-CD14+_RO01746	blood
44	chr1:220406600-220420200	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr1:220406800-220422600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr1:220409000-220422000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr1:220409400-220422800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr1:220410000-220420600	Weak transcription	A549	lung
49	chr1:220413800-220422800	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr1:220413800-220425200	Weak transcription	Skeletal Muscle Male	skeletal muscle

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