Variant report

Variant	rs1383983
Chromosome Location	chr4:54187622-54187623
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:54187046..54188673-chr4:54816708..54819135,2	K562	blood:

Extended variants
information (count: 61 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10007422	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11133252	1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];0.92[MEX][hapmap];0.91[MKK][hapmap];0.84[TSI][hapmap];0.86[ASN][1000 genomes]
rs11133257	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11724062	0.83[CEU][hapmap]
rs11731676	0.95[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11933772	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11945292	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12507517	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.84[TSI][hapmap]
rs12509702	0.86[ASN][1000 genomes]
rs13103971	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13113985	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13130986	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13152012	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1383981	0.83[CEU][hapmap]
rs1481817	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1481818	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1481821	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17705869	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1842658	0.83[CEU][hapmap]
rs1871826	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2054588	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2412397	1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];0.92[MEX][hapmap];0.84[MKK][hapmap];0.84[TSI][hapmap];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2412402	0.86[ASN][1000 genomes]
rs28765170	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3986366	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4103016	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4254834	0.84[ASN][1000 genomes]
rs4385132	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4435800	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4472196	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4864743	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4864748	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4864749	0.83[CEU][hapmap]
rs56056061	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62324288	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62324326	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6554068	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6554072	0.87[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];0.92[MEX][hapmap];0.84[TSI][hapmap];0.94[YRI][hapmap];0.80[ASN][1000 genomes]
rs6554077	0.81[ASN][1000 genomes]
rs6554089	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6554091	0.83[CEU][hapmap]
rs6810608	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6818181	0.95[CHB][hapmap];0.86[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.84[TSI][hapmap];0.80[ASN][1000 genomes]
rs6839876	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6846461	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs71597825	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7441849	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7657388	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];0.97[TSI][hapmap];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7682970	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]
rs7683984	0.83[CEU][hapmap]
rs7698145	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7699124	0.92[AMR][1000 genomes]
rs900110	0.83[CEU][hapmap]
rs900111	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs922748	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]
rs9684264	0.80[EUR][1000 genomes]
rs9761504	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9990771	0.83[CEU][hapmap]
rs9998307	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[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:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:54168200-54188000	Weak transcription	Left Ventricle	heart
2	chr4:54169200-54187800	Weak transcription	Liver	Liver
3	chr4:54169600-54187800	Weak transcription	Brain Angular Gyrus	brain
4	chr4:54169800-54187800	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr4:54169800-54216200	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr4:54170600-54230600	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr4:54171200-54188000	Weak transcription	Esophagus	oesophagus
8	chr4:54172000-54188000	Weak transcription	Pancreas	Pancrea
9	chr4:54172000-54188000	Weak transcription	HepG2	liver
10	chr4:54172600-54215400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr4:54174200-54212600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr4:54175800-54188000	Weak transcription	Ovary	ovary
13	chr4:54180000-54193200	Weak transcription	GM12878-XiMat	blood
14	chr4:54180000-54212800	Weak transcription	Primary B cells from cord blood	blood
15	chr4:54182000-54188000	Weak transcription	Duodenum Mucosa	Duodenum
16	chr4:54182400-54187800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr4:54182400-54188000	Weak transcription	Fetal Intestine Small	intestine
18	chr4:54182800-54187800	Weak transcription	Primary T cells from cord blood	blood
19	chr4:54183800-54188000	Weak transcription	Small Intestine	intestine
20	chr4:54186600-54188000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr4:54187000-54187800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr4:54187000-54188000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr4:54187000-54188000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr4:54187000-54188200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
25	chr4:54187200-54187800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr4:54187200-54187800	Active TSS	NHDF-Ad	bronchial
27	chr4:54187200-54188000	Active TSS	HSMMtube	muscle
28	chr4:54187200-54188200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr4:54187200-54188200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr4:54187200-54188200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr4:54187200-54188200	Enhancers	Fetal Heart	heart
32	chr4:54187200-54188200	Flanking Active TSS	HUVEC	blood vessel
33	chr4:54187200-54188200	Flanking Active TSS	NH-A	brain
34	chr4:54187200-54188400	Enhancers	HUES64 Cell Line	embryonic stem cell
35	chr4:54187200-54188400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr4:54187200-54188400	Enhancers	Adipose Nuclei	Adipose
37	chr4:54187200-54189000	Enhancers	Fetal Lung	lung
38	chr4:54187400-54187800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr4:54187400-54187800	Active TSS	Aorta	Aorta
40	chr4:54187400-54187800	Enhancers	Brain Hippocampus Middle	brain
41	chr4:54187400-54187800	Flanking Active TSS	A549	lung
42	chr4:54187400-54187800	Enhancers	Dnd41	blood
43	chr4:54187400-54187800	Active TSS	HSMM	muscle
44	chr4:54187400-54188000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr4:54187400-54188000	Enhancers	iPS-18 Cell Line	embryonic stem cell
46	chr4:54187400-54188000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr4:54187400-54188000	Active TSS	Right Atrium	heart
48	chr4:54187400-54188000	Enhancers	Monocytes-CD14+_RO01746	blood
49	chr4:54187400-54188200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr4:54187400-54188200	Enhancers	iPS-20b Cell Line	embryonic stem cell

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