Variant report

Variant	rs6811200
Chromosome Location	chr4:54177327-54177328
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:54174793..54178568-chr4:54179278..54182842,3	K562	blood:

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10014172	0.92[CHD][hapmap]
rs10021659	0.84[YRI][hapmap]
rs10022429	0.84[YRI][hapmap]
rs10024153	0.92[CHD][hapmap]
rs10025091	0.92[CHD][hapmap]
rs10517295	0.92[CHD][hapmap]
rs12644212	0.84[ASW][hapmap];0.92[CHD][hapmap];0.84[YRI][hapmap]
rs12645287	0.92[CHD][hapmap]
rs12645694	0.81[MKK][hapmap];0.80[YRI][hapmap]
rs1481816	0.88[CHD][hapmap]
rs1481822	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs15834	0.83[YRI][hapmap]
rs17082492	1.00[ASW][hapmap];0.95[LWK][hapmap];0.96[MKK][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs17082557	1.00[ASW][hapmap];1.00[CEU][hapmap];0.96[CHD][hapmap];0.86[GIH][hapmap];0.83[LWK][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17326196	0.84[YRI][hapmap]
rs17839071	0.92[CHD][hapmap]
rs1962230	1.00[ASW][hapmap];0.95[LWK][hapmap];0.84[MKK][hapmap];1.00[YRI][hapmap]
rs2048709	0.92[CHD][hapmap]
rs2412487	0.92[CHD][hapmap]
rs28408605	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28524754	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28575132	0.92[CHD][hapmap]
rs28658460	0.92[CHD][hapmap]
rs28676739	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28826682	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28829603	0.85[AFR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28865315	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28874576	0.91[AFR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35912570	0.83[AFR][1000 genomes]
rs4555709	1.00[YRI][hapmap]
rs58424801	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62324293	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6810475	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6824417	0.83[AFR][1000 genomes]
rs6835821	0.88[AFR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6852755	1.00[CEU][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73816160	0.84[AFR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7680607	0.85[CHB][hapmap]
rs9312637	1.00[YRI][hapmap]
rs9884671	1.00[CEU][hapmap];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9992110	1.00[ASW][hapmap];0.81[GIH][hapmap];0.95[LWK][hapmap];0.93[MKK][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs9994573	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9995661	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9997095	0.88[AFR][1000 genomes];0.88[EUR][1000 genomes];0.87[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	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:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:54140200-54179000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr4:54164400-54177400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr4:54168200-54188000	Weak transcription	Left Ventricle	heart
4	chr4:54169200-54180000	Weak transcription	Brain Hippocampus Middle	brain
5	chr4:54169200-54187800	Weak transcription	Liver	Liver
6	chr4:54169400-54178600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr4:54169400-54187400	Weak transcription	Dnd41	blood
8	chr4:54169600-54187800	Weak transcription	Brain Angular Gyrus	brain
9	chr4:54169800-54181400	Weak transcription	Fetal Lung	lung
10	chr4:54169800-54181400	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr4:54169800-54187800	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr4:54169800-54216200	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr4:54170000-54181400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr4:54170000-54183800	Weak transcription	Primary B cells from peripheral blood	blood
15	chr4:54170000-54186800	Weak transcription	HSMM	muscle
16	chr4:54170600-54187600	Weak transcription	K562	blood
17	chr4:54170600-54230600	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr4:54170800-54181400	Weak transcription	Fetal Thymus	thymus
19	chr4:54171200-54179200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr4:54171200-54188000	Weak transcription	Esophagus	oesophagus
21	chr4:54171600-54181200	Weak transcription	Duodenum Mucosa	Duodenum
22	chr4:54171600-54181400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr4:54171600-54181400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr4:54171600-54187600	Weak transcription	Primary monocytes fromperipheralblood	blood
25	chr4:54171800-54177600	Weak transcription	Primary T cells fromperipheralblood	blood
26	chr4:54171800-54181400	Weak transcription	Brain Cingulate Gyrus	brain
27	chr4:54172000-54181200	Weak transcription	Fetal Intestine Small	intestine
28	chr4:54172000-54188000	Weak transcription	Pancreas	Pancrea
29	chr4:54172000-54188000	Weak transcription	HepG2	liver
30	chr4:54172200-54180800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr4:54172200-54181800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr4:54172600-54215400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr4:54173000-54187600	Weak transcription	Brain Anterior Caudate	brain
34	chr4:54173200-54177800	Weak transcription	Gastric	stomach
35	chr4:54173200-54182000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr4:54173400-54181400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr4:54173400-54186800	Weak transcription	NH-A	brain
38	chr4:54173600-54182200	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr4:54173800-54181800	Weak transcription	Primary T helper cells PMA-I stimulated	--
40	chr4:54174200-54177600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr4:54174200-54177600	Enhancers	NHDF-Ad	bronchial
42	chr4:54174200-54178200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
43	chr4:54174200-54181400	Weak transcription	Primary T cells from cord blood	blood
44	chr4:54174200-54187200	Weak transcription	Adipose Nuclei	Adipose
45	chr4:54174200-54187400	Weak transcription	A549	lung
46	chr4:54174200-54212600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr4:54174400-54177800	Weak transcription	Primary T helper cells fromperipheralblood	blood
48	chr4:54174600-54178400	Weak transcription	Primary B cells from cord blood	blood
49	chr4:54174600-54179800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr4:54174800-54181600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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