Variant report

Variant	rs705589
Chromosome Location	chr6:101277382-101277383
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:101271641..101274156-chr6:101276043..101277591,3	K562	blood:
2	chr6:101269410..101270925-chr6:101275181..101277439,2	MCF-7	breast:

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs1069049	0.95[CEU][hapmap];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1099911	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12174782	1.00[CEU][hapmap]
rs12530388	0.83[ASN][1000 genomes]
rs1765058	0.80[EUR][1000 genomes]
rs4270794	0.80[EUR][1000 genomes]
rs4454144	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs592436	0.95[CEU][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs618919	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs638823	0.80[EUR][1000 genomes]
rs6570972	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6570975	0.80[EUR][1000 genomes]
rs6570976	0.80[EUR][1000 genomes]
rs657915	0.90[CEU][hapmap];0.80[EUR][1000 genomes]
rs6919745	0.90[ASN][1000 genomes]
rs6931410	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6934256	0.90[ASN][1000 genomes]
rs705591	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs705592	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs705593	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs705596	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs705599	1.00[CEU][hapmap];0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs705600	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs705603	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs705604	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs705605	1.00[CEU][hapmap];0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs705606	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs705607	1.00[CEU][hapmap];0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs705608	1.00[CEU][hapmap];0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs705610	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs705623	0.80[EUR][1000 genomes]
rs7739574	0.91[CEU][hapmap];0.80[EUR][1000 genomes]
rs7750122	0.80[EUR][1000 genomes]
rs846771	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs846772	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs846773	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs846775	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs846777	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs846781	0.90[CEU][hapmap];0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs846782	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs846785	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs846794	1.00[CEU][hapmap];0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs846797	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs846798	0.90[CEU][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs865318	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9377239	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9377242	0.80[EUR][1000 genomes]
rs9498419	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949535	chr6:100740293-101469052	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv886456	chr6:101049108-101277926	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1020692	chr6:101136992-101426071	ZNF genes & repeats Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS 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	8 gene(s)	inside rSNPs	diseases
4	nsv604275	chr6:101158950-101277926	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv886457	chr6:101158950-101487473	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
6	nsv1016353	chr6:101172705-101304041	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv1020400	chr6:101172705-101981665	Weak transcription Bivalent/Poised TSS Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
8	nsv538390	chr6:101172705-101981665	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
9	nsv1019213	chr6:101225650-101623140	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
10	nsv538391	chr6:101225650-101623140	Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:101184400-101304600	Weak transcription	Hela-S3	cervix
2	chr6:101212000-101281400	Weak transcription	Aorta	Aorta
3	chr6:101213600-101281600	Weak transcription	Gastric	stomach
4	chr6:101214800-101281600	Weak transcription	Left Ventricle	heart
5	chr6:101215200-101311400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr6:101226000-101281400	Weak transcription	HUVEC	blood vessel
7	chr6:101233600-101306600	Weak transcription	K562	blood
8	chr6:101238000-101296200	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr6:101243200-101277800	Weak transcription	NHEK	skin
10	chr6:101244600-101296200	Weak transcription	NH-A	brain
11	chr6:101249400-101298200	Weak transcription	A549	lung
12	chr6:101252200-101293800	Weak transcription	HMEC	breast
13	chr6:101252200-101295600	Weak transcription	NHDF-Ad	bronchial
14	chr6:101253200-101294800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr6:101253400-101277800	Weak transcription	Dnd41	blood
16	chr6:101253400-101284400	Weak transcription	Primary B cells from cord blood	blood
17	chr6:101253400-101295600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr6:101253400-101295800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr6:101253400-101304200	Weak transcription	Primary T cells from cord blood	blood
20	chr6:101253600-101284000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr6:101253800-101292600	Weak transcription	Primary T helper cells PMA-I stimulated	--
22	chr6:101253800-101295600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr6:101257600-101294200	Weak transcription	Osteobl	bone
24	chr6:101258200-101295600	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr6:101261400-101279400	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr6:101264000-101295600	Weak transcription	HepG2	liver
27	chr6:101266400-101281400	Weak transcription	Pancreas	Pancrea
28	chr6:101268600-101278800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr6:101269000-101279200	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr6:101269000-101281600	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr6:101269200-101277800	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr6:101269200-101279800	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr6:101269200-101326600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr6:101271200-101296000	Weak transcription	Ovary	ovary
35	chr6:101271400-101277400	Weak transcription	HSMM	muscle
36	chr6:101271400-101296000	Weak transcription	HSMMtube	muscle
37	chr6:101272200-101289800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr6:101273600-101291200	Weak transcription	Primary T helper cells fromperipheralblood	blood
39	chr6:101274000-101277800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr6:101274400-101279200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr6:101274600-101295600	Weak transcription	Fetal Thymus	thymus
42	chr6:101274800-101282000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr6:101275000-101279200	Weak transcription	Liver	Liver
44	chr6:101275200-101278800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr6:101275800-101314400	Weak transcription	Rectal Mucosa Donor 29	rectum
46	chr6:101276200-101277600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr6:101276200-101277600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr6:101276200-101277600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr6:101276200-101277600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
50	chr6:101276200-101277600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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