Variant report

Variant	rs922748
Chromosome Location	chr4:54171447-54171448
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:54170671..54173423-chr4:54174162..54176514,4	K562	blood:

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10007422	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11133252	0.85[CHB][hapmap];0.83[CHD][hapmap];0.93[GIH][hapmap];0.90[JPT][hapmap];0.92[MEX][hapmap];0.84[TSI][hapmap]
rs11133257	1.00[CEU][hapmap];0.85[CHB][hapmap];0.83[CHD][hapmap];0.93[GIH][hapmap];0.90[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11724062	0.83[CEU][hapmap]
rs11731676	0.95[CEU][hapmap];0.85[CHB][hapmap];0.81[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11933772	0.91[CEU][hapmap];0.85[CHB][hapmap];0.90[JPT][hapmap];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11945292	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12507517	0.91[ASW][hapmap];0.85[CHB][hapmap];0.83[CHD][hapmap];0.87[GIH][hapmap];0.90[JPT][hapmap];1.00[LWK][hapmap];0.92[MEX][hapmap];0.97[MKK][hapmap];0.84[TSI][hapmap];1.00[YRI][hapmap]
rs13102168	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs13103971	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13113985	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13130986	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13152012	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1383981	0.83[CEU][hapmap]
rs1383983	1.00[CEU][hapmap];0.85[CHB][hapmap];0.83[CHD][hapmap];0.93[GIH][hapmap];0.90[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1481817	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1481818	1.00[CEU][hapmap];0.85[CHB][hapmap];0.90[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1481821	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17705869	0.91[CEU][hapmap];0.85[CHB][hapmap];0.90[JPT][hapmap];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1842658	0.83[CEU][hapmap]
rs1871826	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2054588	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2412397	0.85[CHB][hapmap];0.83[CHD][hapmap];0.93[GIH][hapmap];0.90[JPT][hapmap];0.92[MEX][hapmap];0.84[TSI][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs28765170	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3986366	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4103016	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4385132	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4435800	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4472196	1.00[CEU][hapmap];0.85[CHB][hapmap];0.83[CHD][hapmap];0.93[GIH][hapmap];0.90[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4864743	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4864748	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4864749	0.83[CEU][hapmap]
rs56056061	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62324288	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62324326	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6554068	0.85[CHB][hapmap];0.90[JPT][hapmap]
rs6554072	0.85[CHB][hapmap];0.83[CHD][hapmap];0.93[GIH][hapmap];0.90[JPT][hapmap];0.92[MEX][hapmap];0.84[TSI][hapmap]
rs6554089	1.00[CEU][hapmap];0.85[CHB][hapmap];0.83[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6554091	0.83[CEU][hapmap]
rs6810608	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6818181	0.93[GIH][hapmap];0.90[JPT][hapmap];0.92[MEX][hapmap];0.84[TSI][hapmap]
rs6839876	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6846461	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs71597825	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7441849	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7657388	1.00[CEU][hapmap];0.85[CHB][hapmap];0.83[CHD][hapmap];0.93[GIH][hapmap];0.90[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7682970	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]
rs7683984	0.83[CEU][hapmap]
rs7698145	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7699124	0.86[AMR][1000 genomes]
rs900110	0.83[CEU][hapmap]
rs900111	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9684264	0.81[EUR][1000 genomes]
rs9761504	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9990771	0.83[CEU][hapmap]
rs9998307	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9998376	0.83[CEU][hapmap]

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	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

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:54140200-54179000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr4:54153200-54172200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr4:54161000-54172000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr4:54164400-54177400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr4:54165000-54172000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr4:54165000-54172200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr4:54168200-54188000	Weak transcription	Left Ventricle	heart
8	chr4:54169000-54172400	Weak transcription	Primary T cells from cord blood	blood
9	chr4:54169200-54173000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr4:54169200-54180000	Weak transcription	Brain Hippocampus Middle	brain
11	chr4:54169200-54187800	Weak transcription	Liver	Liver
12	chr4:54169400-54172800	Weak transcription	Primary B cells from cord blood	blood
13	chr4:54169400-54178600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr4:54169400-54187400	Weak transcription	Dnd41	blood
15	chr4:54169600-54173400	Weak transcription	GM12878-XiMat	blood
16	chr4:54169600-54187800	Weak transcription	Brain Angular Gyrus	brain
17	chr4:54169800-54181400	Weak transcription	Fetal Lung	lung
18	chr4:54169800-54181400	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr4:54169800-54187800	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr4:54169800-54216200	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr4:54170000-54172400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr4:54170000-54173000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr4:54170000-54181400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr4:54170000-54183800	Weak transcription	Primary B cells from peripheral blood	blood
25	chr4:54170000-54186800	Weak transcription	HSMM	muscle
26	chr4:54170200-54173000	Weak transcription	Primary T helper cells PMA-I stimulated	--
27	chr4:54170200-54173000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr4:54170400-54171600	Weak transcription	NHDF-Ad	bronchial
29	chr4:54170600-54187600	Weak transcription	K562	blood
30	chr4:54170600-54230600	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr4:54170800-54172200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr4:54170800-54173200	Weak transcription	Primary hematopoietic stem cells	blood
33	chr4:54170800-54174000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr4:54170800-54174000	Weak transcription	Primary T helper cells fromperipheralblood	blood
35	chr4:54170800-54181400	Weak transcription	Fetal Thymus	thymus
36	chr4:54171200-54179200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr4:54171200-54188000	Weak transcription	Esophagus	oesophagus
38	chr4:54171400-54172400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr4:54171400-54172800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr4:54171400-54173000	Weak transcription	A549	lung

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