Variant report

Variant	rs9998376
Chromosome Location	chr4:54180522-54180523
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	chr4:54174793..54178568-chr4:54179278..54182842,3	K562	blood:

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10014030	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11133257	0.83[CEU][hapmap]
rs11133258	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11721940	0.96[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs11724062	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11724781	0.85[CEU][hapmap];0.82[EUR][1000 genomes]
rs11725172	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11942132	0.81[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs12715997	0.83[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs13130337	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs1383981	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1383983	0.83[CEU][hapmap]
rs1481818	0.85[CEU][hapmap]
rs1842658	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1871826	0.85[CEU][hapmap]
rs2200051	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2412403	0.86[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs2412404	0.95[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs28832663	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34426398	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4328970	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4472196	0.83[CEU][hapmap]
rs4571396	0.82[CEU][hapmap]
rs4588514	0.95[CHB][hapmap];0.81[JPT][hapmap];1.00[YRI][hapmap];0.81[ASN][1000 genomes]
rs4864749	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4864752	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs62324286	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6554071	0.95[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap]
rs6554074	0.83[ASN][1000 genomes]
rs6554078	0.83[ASN][1000 genomes]
rs6554089	0.83[CEU][hapmap]
rs6554091	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6554092	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6554093	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6821113	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6852852	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6856562	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6857744	0.82[EUR][1000 genomes]
rs751266	0.81[CEU][hapmap];0.81[EUR][1000 genomes]
rs7655632	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7657388	0.83[CEU][hapmap]
rs7658384	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7673864	0.81[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs7682970	0.85[CEU][hapmap]
rs7683984	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs900110	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs922748	0.83[CEU][hapmap]
rs9759746	0.81[EUR][1000 genomes]
rs9990771	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9991945	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[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:69 , 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	chr4:54169400-54187400	Weak transcription	Dnd41	blood
4	chr4:54169600-54187800	Weak transcription	Brain Angular Gyrus	brain
5	chr4:54169800-54181400	Weak transcription	Fetal Lung	lung
6	chr4:54169800-54181400	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr4:54169800-54187800	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr4:54169800-54216200	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr4:54170000-54181400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr4:54170000-54183800	Weak transcription	Primary B cells from peripheral blood	blood
11	chr4:54170000-54186800	Weak transcription	HSMM	muscle
12	chr4:54170600-54187600	Weak transcription	K562	blood
13	chr4:54170600-54230600	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr4:54170800-54181400	Weak transcription	Fetal Thymus	thymus
15	chr4:54171200-54188000	Weak transcription	Esophagus	oesophagus
16	chr4:54171600-54181200	Weak transcription	Duodenum Mucosa	Duodenum
17	chr4:54171600-54181400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr4:54171600-54181400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr4:54171600-54187600	Weak transcription	Primary monocytes fromperipheralblood	blood
20	chr4:54171800-54181400	Weak transcription	Brain Cingulate Gyrus	brain
21	chr4:54172000-54181200	Weak transcription	Fetal Intestine Small	intestine
22	chr4:54172000-54188000	Weak transcription	Pancreas	Pancrea
23	chr4:54172000-54188000	Weak transcription	HepG2	liver
24	chr4:54172200-54180800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr4:54172200-54181800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr4:54172600-54215400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr4:54173000-54187600	Weak transcription	Brain Anterior Caudate	brain
28	chr4:54173200-54182000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr4:54173400-54181400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr4:54173400-54186800	Weak transcription	NH-A	brain
31	chr4:54173600-54182200	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr4:54173800-54181800	Weak transcription	Primary T helper cells PMA-I stimulated	--
33	chr4:54174200-54181400	Weak transcription	Primary T cells from cord blood	blood
34	chr4:54174200-54187200	Weak transcription	Adipose Nuclei	Adipose
35	chr4:54174200-54187400	Weak transcription	A549	lung
36	chr4:54174200-54212600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr4:54174800-54181600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr4:54174800-54187400	Weak transcription	Primary hematopoietic stem cells	blood
39	chr4:54175200-54181400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr4:54175800-54188000	Weak transcription	Ovary	ovary
41	chr4:54176400-54180600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr4:54176400-54186200	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr4:54176400-54186200	Weak transcription	NHLF	lung
44	chr4:54176400-54187400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr4:54176600-54181600	Weak transcription	Fetal Brain Male	brain
46	chr4:54176600-54185800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr4:54176600-54187400	Weak transcription	Monocytes-CD14+_RO01746	blood
48	chr4:54176800-54181200	Weak transcription	Fetal Intestine Large	intestine
49	chr4:54176800-54182000	Weak transcription	Psoas Muscle	Psoas
50	chr4:54177200-54181400	Weak transcription	Osteobl	bone

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