Variant report

Variant	rs7682970
Chromosome Location	chr4:54137959-54137960
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:54107331..54109180-chr4:54137571..54139298,2	K562	blood:

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10007422	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11133251	0.81[AMR][1000 genomes]
rs11133252	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs11133257	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11724062	0.84[CEU][hapmap]
rs11731676	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11933772	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11945292	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12507517	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12509702	0.87[ASN][1000 genomes]
rs13103971	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13113985	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13130986	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13152012	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1383981	0.83[CEU][hapmap]
rs1383983	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1481817	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1481818	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1481821	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17705869	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1842658	0.84[CEU][hapmap]
rs1871826	1.00[CEU][hapmap];0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2054588	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2412397	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2412402	0.87[ASN][1000 genomes]
rs28765170	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3986366	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4103016	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4254834	0.86[ASN][1000 genomes]
rs4385132	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4435800	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4472196	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4864743	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4864748	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4864749	0.83[CEU][hapmap]
rs56056061	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62324288	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62324326	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6554068	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6554072	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs6554077	0.83[ASN][1000 genomes]
rs6554089	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6554091	0.83[CEU][hapmap]
rs6810608	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6818181	0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs6839876	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6846461	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs71597825	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7441849	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7657388	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7683984	0.83[CEU][hapmap]
rs7698145	0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7699124	0.86[AMR][1000 genomes]
rs900110	0.85[CEU][hapmap]
rs900111	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs922748	1.00[CEU][hapmap];0.85[CHB][hapmap];0.90[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9761504	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9990771	0.85[CEU][hapmap]
rs9998307	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9998376	0.85[CEU][hapmap]

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	nsv997614	chr4:54086727-54150632	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv1008593	chr4:54120297-54207769	Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	esv2763360	chr4:54123894-54153814	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:54114400-54139600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr4:54114400-54144000	Weak transcription	Liver	Liver
3	chr4:54122200-54139800	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr4:54126800-54141400	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr4:54127600-54153000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr4:54129600-54141400	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr4:54129600-54154600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr4:54129800-54145200	Weak transcription	Fetal Lung	lung
9	chr4:54130400-54143400	Weak transcription	Primary hematopoietic stem cells	blood
10	chr4:54130400-54148600	Weak transcription	Fetal Muscle Trunk	muscle
11	chr4:54130400-54150400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr4:54130600-54148200	Weak transcription	Fetal Intestine Small	intestine
13	chr4:54131000-54145800	Weak transcription	Primary B cells from cord blood	blood
14	chr4:54133000-54141400	Weak transcription	Placenta	Placenta
15	chr4:54133200-54144600	Weak transcription	Primary T helper cells PMA-I stimulated	--
16	chr4:54133600-54139600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr4:54133800-54139600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr4:54134800-54140000	Weak transcription	NHDF-Ad	bronchial
19	chr4:54134800-54151000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr4:54134800-54154200	Weak transcription	NHLF	lung
21	chr4:54135000-54145600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr4:54135000-54145800	Weak transcription	Primary B cells from peripheral blood	blood
23	chr4:54135000-54151200	Weak transcription	Left Ventricle	heart
24	chr4:54135200-54140800	Weak transcription	Pancreas	Pancrea
25	chr4:54135200-54142600	Weak transcription	GM12878-XiMat	blood
26	chr4:54135200-54144000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr4:54135200-54148200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr4:54135200-54151800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr4:54135200-54154600	Weak transcription	Primary T cells from cord blood	blood
30	chr4:54135400-54146000	Weak transcription	Fetal Stomach	stomach
31	chr4:54135400-54152200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr4:54135400-54153000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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