Variant report

Variant	rs2221833
Chromosome Location	chr1:220414872-220414873
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10863537	0.84[CEU][hapmap];0.83[CHB][hapmap];0.95[YRI][hapmap]
rs10863538	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11118507	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12026681	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs1397958	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1588578	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2667967	0.90[EUR][1000 genomes]
rs2667968	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2667969	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2667970	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2789792	0.81[CEU][hapmap]
rs2808008	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2808009	1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2808011	0.95[CEU][hapmap];1.00[CHB][hapmap];0.84[CHD][hapmap];0.93[GIH][hapmap];0.90[JPT][hapmap];0.91[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2808012	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2808013	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2808016	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2808018	0.95[CEU][hapmap];0.95[CHB][hapmap];0.93[GIH][hapmap];0.90[JPT][hapmap];0.91[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2808019	0.95[CEU][hapmap];0.95[CHB][hapmap];0.93[GIH][hapmap];0.90[JPT][hapmap];0.91[TSI][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2808026	0.81[CEU][hapmap]
rs2814492	0.96[ASN][1000 genomes]
rs2814494	0.83[ASN][1000 genomes]
rs2814495	0.94[ASN][1000 genomes]
rs4142940	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4511114	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6541127	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6696985	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7535619	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[CHD][hapmap];0.93[GIH][hapmap];0.90[JPT][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][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	chr1:220379000-220418200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr1:220379200-220422600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr1:220381200-220422000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr1:220384200-220420600	Weak transcription	Fetal Kidney	kidney
5	chr1:220384200-220423000	Weak transcription	Esophagus	oesophagus
6	chr1:220384200-220425800	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr1:220384800-220417000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr1:220385400-220419400	Weak transcription	HUVEC	blood vessel
9	chr1:220393000-220441000	Weak transcription	NHDF-Ad	bronchial
10	chr1:220393800-220425800	Weak transcription	Gastric	stomach
11	chr1:220394000-220422600	Weak transcription	Thymus	Thymus
12	chr1:220398400-220420400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr1:220399000-220418400	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr1:220400400-220423000	Weak transcription	Pancreas	Pancrea
15	chr1:220400600-220415600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr1:220400600-220422200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr1:220400800-220422200	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr1:220401000-220425200	Weak transcription	Right Ventricle	heart
19	chr1:220401200-220418200	Weak transcription	Spleen	Spleen
20	chr1:220401200-220422800	Weak transcription	Rectal Smooth Muscle	rectum
21	chr1:220401400-220420600	Weak transcription	Fetal Intestine Small	intestine
22	chr1:220401400-220422600	Weak transcription	Fetal Stomach	stomach
23	chr1:220401400-220422600	Weak transcription	Left Ventricle	heart
24	chr1:220401600-220425800	Weak transcription	Stomach Smooth Muscle	stomach
25	chr1:220402200-220420800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr1:220403800-220415400	Weak transcription	Colon Smooth Muscle	Colon
27	chr1:220403800-220423000	Weak transcription	Lung	lung
28	chr1:220404000-220425000	Weak transcription	NHLF	lung
29	chr1:220404600-220420800	Weak transcription	NHEK	skin
30	chr1:220405400-220420800	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr1:220405800-220420600	Weak transcription	HSMM	muscle
32	chr1:220405800-220422800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr1:220405800-220423000	Weak transcription	Aorta	Aorta
34	chr1:220406000-220416600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr1:220406000-220416800	Weak transcription	Duodenum Mucosa	Duodenum
36	chr1:220406000-220416800	Weak transcription	Ovary	ovary
37	chr1:220406000-220417200	Weak transcription	Primary B cells from peripheral blood	blood
38	chr1:220406000-220418400	Weak transcription	Fetal Intestine Large	intestine
39	chr1:220406000-220422000	Weak transcription	Liver	Liver
40	chr1:220406000-220422000	Weak transcription	HepG2	liver
41	chr1:220406000-220422200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr1:220406000-220422600	Weak transcription	Fetal Thymus	thymus
43	chr1:220406000-220425200	Weak transcription	HSMMtube	muscle
44	chr1:220406200-220415600	Weak transcription	K562	blood
45	chr1:220406200-220416800	Weak transcription	Primary T cells from cord blood	blood
46	chr1:220406200-220417200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr1:220406200-220418000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr1:220406200-220418400	Weak transcription	Placenta	Placenta
49	chr1:220406200-220420200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr1:220406200-220420400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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