Variant report

Variant	rs4355753
Chromosome Location	chr8:125364367-125364368
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:125363535..125365939-chr8:125365968..125368194,2	K562	blood:
2	chr8:125311034..125312561-chr8:125362533..125365224,2	K562	blood:
3	chr8:125357705..125360687-chr8:125362557..125365211,4	K562	blood:
4	chr8:125212588..125215990-chr8:125362115..125365671,3	MCF-7	breast:

Extended variants
information (count: 87 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:82)

rs_ID	r²[population]
rs10090489	0.96[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs10091430	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs10093809	0.96[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs10093812	0.96[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs10096657	0.87[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10105192	0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10111787	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs10956175	0.91[ASN][1000 genomes]
rs11997689	0.88[ASN][1000 genomes]
rs12680422	0.97[ASN][1000 genomes]
rs12680423	0.97[ASN][1000 genomes]
rs16899562	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16899577	0.87[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17297352	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17369737	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17369758	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28456315	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28460280	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28536158	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28538795	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28562339	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28594441	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28657471	0.93[AFR][1000 genomes]
rs28694575	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28716042	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28721926	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28827823	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4128778	0.97[ASN][1000 genomes]
rs4128779	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs4257989	1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs4364615	0.87[ASN][1000 genomes]
rs4366066	1.00[CHB][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs4368958	0.97[ASN][1000 genomes]
rs4376483	0.97[ASN][1000 genomes]
rs4394374	0.91[ASN][1000 genomes]
rs4406374	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4503079	0.97[ASN][1000 genomes]
rs4617135	0.91[ASN][1000 genomes]
rs55679493	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55931807	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56036293	0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56142132	0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56166945	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56202566	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56225520	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56342262	0.80[ASN][1000 genomes]
rs56893629	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58908685	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs67086747	0.94[AFR][1000 genomes]
rs6984676	0.86[ASN][1000 genomes]
rs6984691	0.86[ASN][1000 genomes]
rs6990925	1.00[MEX][hapmap]
rs7005950	0.97[ASN][1000 genomes]
rs7015493	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73332159	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73332190	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73332191	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73333910	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73333911	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73333937	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73333948	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73333990	0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73333993	0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73333994	0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73336155	0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73336165	0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73336173	0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73336179	0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73336181	0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73336185	0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73336195	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73336202	0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73337903	0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73337904	0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7386980	1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs7387197	0.82[ASN][1000 genomes]
rs7388185	0.97[ASN][1000 genomes]
rs7819589	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7833150	0.88[EUR][1000 genomes]
rs7835963	0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7836478	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.94[TSI][hapmap];0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9886564	1.00[ASW][hapmap];1.00[MEX][hapmap];0.83[TSI][hapmap];0.81[YRI][hapmap];0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2762769	chr8:125167256-125480574	Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv521356	chr8:125309055-125404763	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv1034768	chr8:125323011-125481733	Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv527751	chr8:125338216-125431030	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
5	esv3384288	chr8:125350820-125377284	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	6 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	chr8:125346400-125368200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:125352000-125366400	Weak transcription	Primary T cells from cord blood	blood
3	chr8:125353000-125376200	Weak transcription	HSMM	muscle
4	chr8:125353200-125364800	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr8:125354600-125365000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr8:125355800-125370400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr8:125357600-125366600	Weak transcription	Right Ventricle	heart
8	chr8:125358600-125364800	Weak transcription	Psoas Muscle	Psoas
9	chr8:125358600-125365000	Weak transcription	Left Ventricle	heart
10	chr8:125360400-125364800	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr8:125361400-125368000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr8:125362000-125371000	Weak transcription	Colon Smooth Muscle	Colon
13	chr8:125362800-125367600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr8:125362800-125382800	Weak transcription	Ovary	ovary
15	chr8:125363000-125369000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
16	chr8:125363200-125365000	Enhancers	Primary T killer memory cells from peripheral blood	blood
17	chr8:125363400-125364400	Enhancers	Primary T helper naive cells from peripheral blood	blood
18	chr8:125363400-125368000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr8:125363400-125369400	Enhancers	Primary T helper cells PMA-I stimulated	--
20	chr8:125363600-125364400	Enhancers	Pancreatic Islets	Pancreatic Islet
21	chr8:125363600-125364600	Enhancers	Primary T helper cells fromperipheralblood	blood
22	chr8:125363800-125364400	Enhancers	Primary monocytes fromperipheralblood	blood
23	chr8:125363800-125364400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
24	chr8:125363800-125364400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr8:125363800-125364400	Enhancers	Fetal Intestine Small	intestine
26	chr8:125363800-125364400	Enhancers	Fetal Lung	lung
27	chr8:125363800-125364400	Enhancers	A549	lung
28	chr8:125363800-125364400	Flanking Active TSS	K562	blood
29	chr8:125363800-125364600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr8:125363800-125365000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
31	chr8:125364000-125364400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
32	chr8:125364000-125364400	Flanking Active TSS	Fetal Heart	heart
33	chr8:125364000-125364400	Active TSS	Rectal Mucosa Donor 31	rectum
34	chr8:125364000-125364400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
35	chr8:125364000-125364600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
36	chr8:125364000-125364600	Enhancers	HUVEC	blood vessel
37	chr8:125364000-125365200	Enhancers	Primary hematopoietic stem cells short term culture	blood
38	chr8:125364200-125364400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr8:125364200-125364400	Active TSS	Primary hematopoietic stem cells	blood
40	chr8:125364200-125364400	Flanking Active TSS	Adipose Nuclei	Adipose
41	chr8:125364200-125364400	Enhancers	Duodenum Mucosa	Duodenum
42	chr8:125364200-125364400	Enhancers	NHDF-Ad	bronchial
43	chr8:125364200-125364600	Enhancers	Skeletal Muscle Female	skeletal muscle
44	chr8:125364200-125366600	Weak transcription	Small Intestine	intestine

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