Variant report

Variant	rs17050457
Chromosome Location	chr4:120204550-120204551
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	chr4:120133480..120135894-chr4:120202134..120204958,3	K562	blood:

Variant related genes	Relation type
ENSG00000178636	Chromatin interaction
ENSG00000145390	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1033086	0.81[AMR][1000 genomes]
rs1397606	0.87[AMR][1000 genomes]
rs1397612	1.00[CEU][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes]
rs1511020	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.87[AMR][1000 genomes]
rs1511024	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17050351	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17050397	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2389744	0.81[AMR][1000 genomes]
rs2389745	0.87[AMR][1000 genomes]
rs4458436	1.00[CEU][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes]
rs4834758	0.81[AMR][1000 genomes]
rs4834763	0.87[AMR][1000 genomes]
rs6534129	0.81[AMR][1000 genomes]
rs6818150	1.00[JPT][hapmap];0.87[AMR][1000 genomes]
rs6823192	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6833531	0.87[AMR][1000 genomes]
rs6853132	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6853317	1.00[CEU][hapmap]
rs7658445	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7668809	0.81[AMR][1000 genomes]
rs7668987	0.81[AMR][1000 genomes]
rs7684673	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7690674	1.00[CEU][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7692328	1.00[CEU][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9991222	1.00[CEU][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes]
rs9997186	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9998382	0.87[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916641	chr4:119780023-120777320	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv948802	chr4:119844269-120208926	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
3	nsv1012868	chr4:120014630-120464880	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
4	nsv537232	chr4:120014630-120464880	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:120136200-120219200	Weak transcription	Brain Angular Gyrus	brain
2	chr4:120148200-120213600	Weak transcription	Fetal Muscle Leg	muscle
3	chr4:120159400-120206200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr4:120166400-120206200	Weak transcription	Small Intestine	intestine
5	chr4:120170600-120206200	Weak transcription	Brain Cingulate Gyrus	brain
6	chr4:120174400-120206200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr4:120177000-120205600	Weak transcription	Aorta	Aorta
8	chr4:120177000-120206000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr4:120177000-120213600	Weak transcription	Lung	lung
10	chr4:120177000-120220200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr4:120177000-120220200	Weak transcription	Pancreas	Pancrea
12	chr4:120177200-120206200	Weak transcription	Colon Smooth Muscle	Colon
13	chr4:120177200-120213600	Weak transcription	Esophagus	oesophagus
14	chr4:120177800-120211400	Weak transcription	HepG2	liver
15	chr4:120178200-120213400	Weak transcription	Primary B cells from peripheral blood	blood
16	chr4:120178200-120213600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr4:120178200-120213800	Weak transcription	Primary B cells from cord blood	blood
18	chr4:120178600-120206200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr4:120178600-120217600	Weak transcription	Fetal Stomach	stomach
20	chr4:120184000-120205200	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr4:120187000-120219200	Weak transcription	Right Ventricle	heart
22	chr4:120187800-120206000	Weak transcription	Rectal Smooth Muscle	rectum
23	chr4:120189800-120206200	Weak transcription	Brain Substantia Nigra	brain
24	chr4:120190000-120206000	Weak transcription	Fetal Kidney	kidney
25	chr4:120190200-120205000	Weak transcription	NHEK	skin
26	chr4:120190400-120206000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr4:120193000-120206000	Weak transcription	HSMMtube	muscle
28	chr4:120193000-120206200	Weak transcription	Colonic Mucosa	Colon
29	chr4:120193000-120217600	Weak transcription	Psoas Muscle	Psoas
30	chr4:120193000-120219200	Weak transcription	Fetal Brain Male	brain
31	chr4:120193200-120206000	Weak transcription	Adipose Nuclei	Adipose
32	chr4:120193200-120206000	Weak transcription	Brain Anterior Caudate	brain
33	chr4:120193200-120206000	Weak transcription	Fetal Lung	lung
34	chr4:120193200-120206000	Weak transcription	Stomach Smooth Muscle	stomach
35	chr4:120193200-120212600	Weak transcription	Primary T cells fromperipheralblood	blood
36	chr4:120193400-120206000	Weak transcription	HMEC	breast
37	chr4:120193400-120206000	Weak transcription	NH-A	brain
38	chr4:120193800-120206000	Weak transcription	Ovary	ovary
39	chr4:120193800-120213600	Weak transcription	Left Ventricle	heart
40	chr4:120194400-120205600	Weak transcription	Fetal Intestine Small	intestine
41	chr4:120194400-120206000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
42	chr4:120194600-120206000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr4:120194600-120213400	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr4:120194800-120206000	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr4:120195000-120205800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr4:120195000-120206000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr4:120195000-120206000	Weak transcription	Duodenum Mucosa	Duodenum
48	chr4:120195000-120206000	Weak transcription	Fetal Intestine Large	intestine
49	chr4:120195000-120211800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr4:120195200-120205200	Weak transcription	Liver	Liver

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