Variant report

Variant	rs17145473
Chromosome Location	chr5:118869049-118869050
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:118863717..118866521-chr5:118868164..118871056,3	K562	blood:
2	chr5:118753614..118755538-chr5:118867454..118869085,2	K562	blood:
3	chr5:118868196..118870095-chr5:118875556..118878228,2	K562	blood:

Extended variants
information (count: 81 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs10051019	1.00[CEU][hapmap];1.00[MEX][hapmap];0.90[EUR][1000 genomes]
rs10055743	1.00[JPT][hapmap]
rs10064524	1.00[JPT][hapmap]
rs10064783	1.00[JPT][hapmap]
rs10069480	1.00[JPT][hapmap]
rs10073818	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs11539471	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11746780	1.00[CEU][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11748477	1.00[CEU][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];1.00[TSI][hapmap];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11748530	1.00[CEU][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11952111	0.84[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs11957255	1.00[CEU][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11959717	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1388106	0.84[EUR][1000 genomes]
rs17145194	1.00[JPT][hapmap]
rs17145196	1.00[JPT][hapmap]
rs17145259	1.00[JPT][hapmap]
rs17145372	1.00[JPT][hapmap]
rs17145469	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17145471	1.00[JPT][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17145475	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17145476	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17145477	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17385942	1.00[JPT][hapmap]
rs2287712	1.00[CEU][hapmap]
rs2560717	0.83[EUR][1000 genomes]
rs2560718	1.00[JPT][hapmap];1.00[TSI][hapmap];0.85[EUR][1000 genomes]
rs28943596	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34338122	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3797344	1.00[JPT][hapmap]
rs3797345	1.00[JPT][hapmap]
rs3813305	1.00[JPT][hapmap]
rs3850200	1.00[CEU][hapmap];0.90[MEX][hapmap]
rs3850201	1.00[CEU][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3991755	1.00[ASN][1000 genomes]
rs4895194	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4895195	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55986996	1.00[ASN][1000 genomes]
rs56050317	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56263494	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56411336	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57218593	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs58354605	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59034186	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs59119324	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs60497431	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60796985	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61093477	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61363907	0.81[EUR][1000 genomes]
rs61412235	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs61457439	1.00[ASN][1000 genomes]
rs66462865	0.85[AFR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66534333	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs66831568	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67990368	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68024523	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs68126620	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6883394	1.00[JPT][hapmap]
rs72788177	0.82[EUR][1000 genomes]
rs72788186	0.93[EUR][1000 genomes]
rs72788194	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72788197	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72788199	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72790203	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72790207	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72790214	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72790217	1.00[ASN][1000 genomes]
rs72790221	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72790222	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7701561	1.00[JPT][hapmap]
rs7704291	1.00[JPT][hapmap]
rs7704487	1.00[JPT][hapmap]
rs7722172	1.00[JPT][hapmap]
rs7723390	1.00[JPT][hapmap]
rs7734378	1.00[JPT][hapmap]
rs7737934	1.00[JPT][hapmap]
rs9327103	0.90[EUR][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	nsv427732	chr5:118730999-119034741	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv1024455	chr5:118770429-119487982	Strong transcription Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv1016271	chr5:118836891-119487982	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv882776	chr5:118859546-118915408	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:118804200-118879600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr5:118832400-118878200	Weak transcription	NH-A	brain
3	chr5:118838000-118869200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr5:118840200-118878400	Weak transcription	Psoas Muscle	Psoas
5	chr5:118841000-118880000	Weak transcription	Brain Germinal Matrix	brain
6	chr5:118841200-118880000	Weak transcription	A549	lung
7	chr5:118841400-118873200	Weak transcription	Fetal Brain Male	brain
8	chr5:118846800-118878200	Weak transcription	NHLF	lung
9	chr5:118847200-118873200	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr5:118847200-118877800	Weak transcription	Small Intestine	intestine
11	chr5:118847200-118878200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr5:118847200-118879800	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr5:118847400-118872000	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr5:118847400-118873000	Weak transcription	Fetal Muscle Trunk	muscle
15	chr5:118847400-118873200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr5:118847400-118873800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr5:118847400-118875800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr5:118847400-118876000	Weak transcription	Colonic Mucosa	Colon
19	chr5:118847400-118878200	Weak transcription	Rectal Smooth Muscle	rectum
20	chr5:118847400-118879800	Weak transcription	HSMMtube	muscle
21	chr5:118847600-118873200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr5:118847600-118873400	Weak transcription	Fetal Muscle Leg	muscle
23	chr5:118847600-118873600	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr5:118847600-118877600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr5:118847600-118878200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr5:118847600-118879800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr5:118851800-118876400	Weak transcription	Primary neutrophils fromperipheralblood	blood
28	chr5:118852800-118878200	Weak transcription	Aorta	Aorta
29	chr5:118853000-118880200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr5:118853400-118878200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr5:118853400-118878200	Weak transcription	Esophagus	oesophagus
32	chr5:118853400-118878200	Weak transcription	Gastric	stomach
33	chr5:118854200-118875600	Weak transcription	Pancreas	Pancrea
34	chr5:118854400-118877600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr5:118854400-118878400	Weak transcription	Spleen	Spleen
36	chr5:118854400-118879600	Weak transcription	Fetal Kidney	kidney
37	chr5:118854400-118880600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr5:118854800-118875600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr5:118854800-118877600	Weak transcription	Fetal Intestine Small	intestine
40	chr5:118854800-118878200	Weak transcription	Thymus	Thymus
41	chr5:118855200-118873200	Weak transcription	Stomach Smooth Muscle	stomach
42	chr5:118855400-118874200	Weak transcription	Ovary	ovary
43	chr5:118855400-118875800	Weak transcription	Brain Cingulate Gyrus	brain
44	chr5:118855400-118876400	Weak transcription	Lung	lung
45	chr5:118855600-118873200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
46	chr5:118855600-118878200	Weak transcription	Fetal Stomach	stomach
47	chr5:118856200-118872800	Weak transcription	Brain Hippocampus Middle	brain
48	chr5:118856200-118874200	Weak transcription	Left Ventricle	heart
49	chr5:118856200-118878400	Weak transcription	Right Ventricle	heart
50	chr5:118857200-118878200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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