Variant report

Variant	rs4705573
Chromosome Location	chr5:112060624-112060625
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:112058449..112061248-chr5:112063741..112066202,3	K562	blood:
2	chr5:112041541..112044063-chr5:112059728..112062226,2	MCF-7	breast:
3	chr5:112060614..112062954-chr5:112069496..112072415,2	K562	blood:
4	chr5:112058057..112061004-chr5:112174922..112177064,2	K562	blood:
5	chr5:112043098..112044806-chr5:112058262..112061694,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000134982	Chromatin interaction

Extended variants
information (count: 89 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:86)

rs_ID	r²[population]
rs10051624	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10071425	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10072068	0.90[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10075281	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10075323	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10075377	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10076641	0.81[EUR][1000 genomes]
rs10213844	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10463642	0.84[ASN][1000 genomes]
rs10477483	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11241182	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11241183	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11241184	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11241185	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11749701	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12332692	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12513787	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12518091	0.90[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12658609	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13156251	0.90[CHB][hapmap];0.94[JPT][hapmap];0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13173990	0.90[CHB][hapmap];0.94[JPT][hapmap]
rs1441367	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1465910	0.80[EUR][1000 genomes]
rs1530256	0.95[CHB][hapmap];0.94[JPT][hapmap];0.96[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17134858	0.81[CHB][hapmap]
rs17285505	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1866924	0.90[CHB][hapmap];0.94[JPT][hapmap];0.96[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1914	0.86[CEU][hapmap];0.85[CHB][hapmap];0.83[JPT][hapmap];0.84[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs1968557	0.95[CHB][hapmap];0.94[JPT][hapmap];0.96[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1974786	0.92[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2019720	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2099810	0.96[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2229992	0.90[CHB][hapmap]
rs2251913	0.82[AFR][1000 genomes]
rs2253987	0.82[AMR][1000 genomes]
rs2289484	0.82[CEU][hapmap];0.90[CHB][hapmap];0.82[JPT][hapmap];0.81[EUR][1000 genomes]
rs2431239	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2431241	0.89[CEU][hapmap];0.82[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs2431512	0.92[CEU][hapmap];0.82[JPT][hapmap];0.86[EUR][1000 genomes]
rs2439589	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2439595	0.85[CHB][hapmap]
rs2464803	0.90[CHB][hapmap];0.81[AMR][1000 genomes]
rs2545158	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs2546106	0.85[CEU][hapmap];0.84[CHB][hapmap];0.82[JPT][hapmap];0.81[AMR][1000 genomes]
rs2546107	0.82[AFR][1000 genomes]
rs2546108	0.89[CEU][hapmap];0.85[CHB][hapmap];0.82[JPT][hapmap];0.81[AMR][1000 genomes]
rs2546110	0.90[CHB][hapmap];0.82[JPT][hapmap]
rs2546112	0.85[CHB][hapmap]
rs2546117	0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2707763	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs2707765	0.86[CEU][hapmap];0.90[CHB][hapmap];0.85[EUR][1000 genomes]
rs28373740	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs28578275	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2901844	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs351772	0.81[AMR][1000 genomes]
rs35414976	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs382427	0.83[JPT][hapmap]
rs3846716	0.85[CEU][hapmap];0.85[EUR][1000 genomes]
rs390092	0.81[CHB][hapmap];0.83[JPT][hapmap];0.84[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs396321	0.85[CEU][hapmap];0.90[CHB][hapmap];0.82[JPT][hapmap]
rs414098	0.89[CEU][hapmap];0.90[CHB][hapmap];0.83[JPT][hapmap];0.83[EUR][1000 genomes]
rs454886	0.84[CHB][hapmap]
rs458906	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs467033	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs4705486	0.89[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4705559	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4705608	0.90[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4705610	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4705624	0.95[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs511906	0.82[AFR][1000 genomes]
rs548710	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs566419	0.80[CHB][hapmap]
rs6594646	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6862050	0.86[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6864688	0.80[CEU][hapmap];0.87[EUR][1000 genomes]
rs6879057	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6894351	0.80[EUR][1000 genomes]
rs6898133	0.82[CEU][hapmap];0.84[EUR][1000 genomes]
rs7704618	0.90[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7727738	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs861674	0.81[EUR][1000 genomes]
rs9326862	0.83[EUR][1000 genomes]
rs9326863	0.82[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs953916	0.91[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs9647582	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9647583	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830450	chr5:111964170-112134510	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv462387	chr5:112053911-112124369	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
3	nsv599393	chr5:112053911-112124369	Strong transcription Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112045400-112062000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr5:112045600-112061600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr5:112045600-112063600	Weak transcription	Ovary	ovary
4	chr5:112046000-112069200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr5:112047000-112061600	Weak transcription	Aorta	Aorta
6	chr5:112047000-112066000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr5:112047400-112072400	Weak transcription	Thymus	Thymus
8	chr5:112047600-112061600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr5:112048400-112061200	Weak transcription	Fetal Intestine Small	intestine
10	chr5:112049200-112061600	Weak transcription	Fetal Stomach	stomach
11	chr5:112052000-112072600	Weak transcription	Primary B cells from cord blood	blood
12	chr5:112052600-112072600	Weak transcription	Primary T cells from cord blood	blood
13	chr5:112054400-112062200	Weak transcription	Right Ventricle	heart
14	chr5:112054400-112073200	Weak transcription	Pancreas	Pancrea
15	chr5:112054600-112061400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr5:112055000-112061600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr5:112056400-112060800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr5:112056400-112061800	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr5:112056600-112066200	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr5:112056600-112067400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr5:112056800-112061800	Weak transcription	Primary T helper cells fromperipheralblood	blood
22	chr5:112056800-112063800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr5:112057400-112064800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr5:112058600-112072800	Weak transcription	Brain Cingulate Gyrus	brain
25	chr5:112058800-112064000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr5:112059000-112060800	Weak transcription	Primary T cells fromperipheralblood	blood
27	chr5:112059000-112061000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr5:112059000-112061600	Weak transcription	Psoas Muscle	Psoas
29	chr5:112059200-112067000	Weak transcription	Brain Anterior Caudate	brain
30	chr5:112059200-112067600	Weak transcription	Colon Smooth Muscle	Colon
31	chr5:112059200-112073200	Weak transcription	Left Ventricle	heart
32	chr5:112060000-112061000	Enhancers	Skeletal Muscle Female	skeletal muscle
33	chr5:112060000-112072800	Weak transcription	Fetal Heart	heart
34	chr5:112060200-112060800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
35	chr5:112060200-112060800	Enhancers	Brain Substantia Nigra	brain
36	chr5:112060200-112061000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
37	chr5:112060200-112061000	Enhancers	Skeletal Muscle Male	skeletal muscle
38	chr5:112060400-112061000	Enhancers	Primary B cells from peripheral blood	blood
39	chr5:112060400-112061000	Enhancers	Lung	lung
40	chr5:112060400-112061800	Weak transcription	Primary T helper cells PMA-I stimulated	--
41	chr5:112060400-112064800	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr5:112060600-112060800	Enhancers	Small Intestine	intestine
43	chr5:112060600-112061400	Strong transcription	Cortex derived primary cultured neurospheres	brain
44	chr5:112060600-112070000	Weak transcription	Brain Hippocampus Middle	brain

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