Variant report

Variant	rs17082563
Chromosome Location	chr4:54172210-54172211
allele	G/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: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10022052	0.86[ASW][hapmap]
rs10517286	1.00[YRI][hapmap];0.80[AFR][1000 genomes]
rs13125807	1.00[YRI][hapmap]
rs17082523	0.95[LWK][hapmap];1.00[MKK][hapmap]
rs17082533	0.80[AFR][1000 genomes]
rs17082544	1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs17082560	1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs17082570	0.85[AFR][1000 genomes]
rs17082591	0.88[AFR][1000 genomes]
rs17082628	1.00[YRI][hapmap]
rs17082643	1.00[YRI][hapmap]
rs17082702	1.00[YRI][hapmap]
rs17082778	1.00[YRI][hapmap]
rs1962074	1.00[YRI][hapmap]
rs9968536	1.00[YRI][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:54 , 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	chr4:54169000-54172400	Weak transcription	Primary T cells from cord blood	blood
5	chr4:54169200-54173000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr4:54169200-54180000	Weak transcription	Brain Hippocampus Middle	brain
7	chr4:54169200-54187800	Weak transcription	Liver	Liver
8	chr4:54169400-54172800	Weak transcription	Primary B cells from cord blood	blood
9	chr4:54169400-54178600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr4:54169400-54187400	Weak transcription	Dnd41	blood
11	chr4:54169600-54173400	Weak transcription	GM12878-XiMat	blood
12	chr4:54169600-54187800	Weak transcription	Brain Angular Gyrus	brain
13	chr4:54169800-54181400	Weak transcription	Fetal Lung	lung
14	chr4:54169800-54181400	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr4:54169800-54187800	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr4:54169800-54216200	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr4:54170000-54172400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr4:54170000-54173000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr4:54170000-54181400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr4:54170000-54183800	Weak transcription	Primary B cells from peripheral blood	blood
21	chr4:54170000-54186800	Weak transcription	HSMM	muscle
22	chr4:54170200-54173000	Weak transcription	Primary T helper cells PMA-I stimulated	--
23	chr4:54170200-54173000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr4:54170600-54187600	Weak transcription	K562	blood
25	chr4:54170600-54230600	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr4:54170800-54173200	Weak transcription	Primary hematopoietic stem cells	blood
27	chr4:54170800-54174000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr4:54170800-54174000	Weak transcription	Primary T helper cells fromperipheralblood	blood
29	chr4:54170800-54181400	Weak transcription	Fetal Thymus	thymus
30	chr4:54171200-54179200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr4:54171200-54188000	Weak transcription	Esophagus	oesophagus
32	chr4:54171400-54172400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr4:54171400-54172800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr4:54171400-54173000	Weak transcription	A549	lung
35	chr4:54171600-54172800	Enhancers	Muscle Satellite Cultured Cells	--
36	chr4:54171600-54181200	Weak transcription	Duodenum Mucosa	Duodenum
37	chr4:54171600-54181400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
38	chr4:54171600-54181400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
39	chr4:54171600-54187600	Weak transcription	Primary monocytes fromperipheralblood	blood
40	chr4:54171800-54173800	Weak transcription	Adipose Nuclei	Adipose
41	chr4:54171800-54177600	Weak transcription	Primary T cells fromperipheralblood	blood
42	chr4:54171800-54181400	Weak transcription	Brain Cingulate Gyrus	brain
43	chr4:54172000-54172800	Enhancers	Osteobl	bone
44	chr4:54172000-54173400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr4:54172000-54176400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr4:54172000-54181200	Weak transcription	Fetal Intestine Small	intestine
47	chr4:54172000-54188000	Weak transcription	Pancreas	Pancrea
48	chr4:54172000-54188000	Weak transcription	HepG2	liver
49	chr4:54172200-54173000	Flanking Active TSS	NHDF-Ad	bronchial
50	chr4:54172200-54173200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood

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