Variant report

Variant	rs4749310
Chromosome Location	chr10:28440243-28440244
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:28439899..28442223-chr10:28443873..28446166,2	MCF-7	breast:

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10508736	0.81[JPT][hapmap]
rs10763646	0.81[JPT][hapmap]
rs10763647	0.81[JPT][hapmap]
rs10763648	0.81[JPT][hapmap]
rs10763649	0.81[JPT][hapmap]
rs10826407	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10826408	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs10826421	0.81[JPT][hapmap]
rs10826424	0.82[CHB][hapmap];0.81[JPT][hapmap]
rs11006896	1.00[CEU][hapmap];0.95[CHB][hapmap];0.84[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11006897	0.95[CHB][hapmap];0.80[JPT][hapmap];0.93[ASN][1000 genomes]
rs11006902	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11006903	0.90[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11006917	0.81[JPT][hapmap]
rs11006920	0.91[CEU][hapmap];0.80[CHB][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12049636	0.81[JPT][hapmap]
rs12251587	0.80[JPT][hapmap]
rs12251924	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12254584	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12255686	0.82[CHB][hapmap]
rs12259869	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12261363	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12264184	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12268470	0.90[CEU][hapmap];0.95[CHB][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12766231	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1626856	0.81[JPT][hapmap]
rs1748483	0.81[JPT][hapmap]
rs1937807	0.80[JPT][hapmap]
rs1937808	0.80[JPT][hapmap]
rs1937809	0.80[JPT][hapmap]
rs1937810	0.82[EUR][1000 genomes]
rs2763316	0.85[JPT][hapmap]
rs2763317	0.80[JPT][hapmap]
rs2763321	0.90[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2985522	0.85[JPT][hapmap]
rs2985532	0.81[JPT][hapmap]
rs2985535	0.80[JPT][hapmap]
rs2997202	0.90[ASN][1000 genomes]
rs2997210	0.80[JPT][hapmap]
rs3901407	0.81[JPT][hapmap]
rs3905706	0.81[JPT][hapmap]
rs4408232	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4568902	0.80[JPT][hapmap]
rs4747615	0.90[CEU][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4749311	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs4749313	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58368296	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7068687	0.81[JPT][hapmap]
rs7081378	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7085245	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7088552	0.80[JPT][hapmap]
rs7097357	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7101051	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7893311	0.81[JPT][hapmap]
rs7922685	0.80[JPT][hapmap]
rs9663596	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917149	chr10:28018919-28688694	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv1042524	chr10:28290149-28506812	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv831816	chr10:28304698-28493635	Enhancers Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
4	nsv525448	chr10:28337570-28563732	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
5	nsv831817	chr10:28369836-28539930	Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	esv1848511	chr10:28373644-28464753	Enhancers Genic enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv894989	chr10:28384098-28449974	Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	nsv949151	chr10:28386125-28455221	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	nsv1041555	chr10:28419399-29304934	Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
10	nsv1037863	chr10:28419399-29378871	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
11	nsv540521	chr10:28419399-29378871	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:28403600-28443200	Weak transcription	Stomach Smooth Muscle	stomach
2	chr10:28413200-28440600	Weak transcription	Left Ventricle	heart
3	chr10:28417000-28449200	Weak transcription	Pancreas	Pancrea
4	chr10:28417600-28458000	Weak transcription	Aorta	Aorta
5	chr10:28427200-28440600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr10:28427200-28448600	Weak transcription	Primary hematopoietic stem cells	blood
7	chr10:28430600-28441400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr10:28434800-28440400	Weak transcription	Primary B cells from cord blood	blood
9	chr10:28434800-28446200	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr10:28435200-28441800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr10:28436800-28447200	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr10:28436800-28451800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr10:28437200-28446600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr10:28439000-28447800	Weak transcription	Primary neutrophils fromperipheralblood	blood
15	chr10:28439000-28452800	Weak transcription	Primary T cells fromperipheralblood	blood
16	chr10:28439000-28466600	Weak transcription	Primary T helper cells fromperipheralblood	blood
17	chr10:28439000-28467000	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr10:28439200-28441400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr10:28439200-28446600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr10:28439200-28466600	Weak transcription	Primary T cells from cord blood	blood
21	chr10:28439600-28452000	Weak transcription	Primary monocytes fromperipheralblood	blood
22	chr10:28440000-28440400	Enhancers	Colon Smooth Muscle	Colon

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