Variant report

Variant	rs953323
Chromosome Location	chr6:4436299-4436300
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	chr6:4432640..4435847-chr6:4435972..4439530,3	MCF-7	breast:
2	chr6:4429968..4432992-chr6:4433898..4437374,3	MCF-7	breast:

Extended variants
information (count: 164 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:132)

rs_ID	r²[population]
rs1010638	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10447477	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10447478	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10447479	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10458172	0.89[CEU][hapmap];0.86[EUR][1000 genomes]
rs10458173	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10458174	0.87[EUR][1000 genomes]
rs10900958	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10900959	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10900960	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10900961	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11242924	0.92[CEU][hapmap];0.87[EUR][1000 genomes]
rs11242927	0.85[EUR][1000 genomes]
rs11242928	0.89[EUR][1000 genomes]
rs11242930	0.89[EUR][1000 genomes]
rs11242933	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11242934	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11242935	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11242936	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11242937	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11242939	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11242942	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11242943	0.82[EUR][1000 genomes]
rs11242944	1.00[CEU][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11242945	1.00[CEU][hapmap]
rs11242946	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11242947	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11242948	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11242951	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11755069	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12191559	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12194925	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12195432	0.88[EUR][1000 genomes]
rs12200144	0.91[CEU][hapmap];0.87[EUR][1000 genomes]
rs12203267	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12207060	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12207864	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12210818	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12211520	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12211781	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12524545	0.89[EUR][1000 genomes]
rs12529480	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1265193	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1265297	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1265300	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1265303	0.83[EUR][1000 genomes]
rs1265304	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1265305	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12660869	0.87[EUR][1000 genomes]
rs12661792	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12663036	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12664576	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12665814	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13213475	0.85[EUR][1000 genomes]
rs1330783	0.87[EUR][1000 genomes]
rs1330784	0.87[EUR][1000 genomes]
rs1330789	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1330791	0.87[EUR][1000 genomes]
rs1411656	0.81[EUR][1000 genomes]
rs1581972	0.87[EUR][1000 genomes]
rs1590939	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17510496	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17510539	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17570029	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17570071	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2026183	0.87[EUR][1000 genomes]
rs2026184	0.87[EUR][1000 genomes]
rs2026185	0.92[CEU][hapmap];0.87[EUR][1000 genomes]
rs2065218	0.90[EUR][1000 genomes]
rs2150234	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2183497	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2326490	0.83[EUR][1000 genomes]
rs2326491	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2875944	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs386894	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4403297	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4513847	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4621669	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs492603	0.86[EUR][1000 genomes]
rs4959284	0.90[EUR][1000 genomes]
rs4959286	0.90[EUR][1000 genomes]
rs4959287	0.82[EUR][1000 genomes]
rs4959952	0.88[EUR][1000 genomes]
rs4959953	0.90[EUR][1000 genomes]
rs501141	0.86[EUR][1000 genomes]
rs553844	0.85[EUR][1000 genomes]
rs55830017	0.90[EUR][1000 genomes]
rs56314957	0.90[EUR][1000 genomes]
rs58613216	0.86[EUR][1000 genomes]
rs59075559	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs60109220	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61498839	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs61711492	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6597060	0.81[EUR][1000 genomes]
rs6597066	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6597067	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6597068	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6597069	0.87[EUR][1000 genomes]
rs66773553	0.90[EUR][1000 genomes]
rs66815625	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs67284074	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs67655715	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6902044	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6904462	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6908618	0.81[EUR][1000 genomes]
rs6908628	0.81[EUR][1000 genomes]
rs6912116	0.80[EUR][1000 genomes]
rs6912741	0.84[EUR][1000 genomes]
rs6917196	0.81[EUR][1000 genomes]
rs6920549	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6923978	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6926926	0.80[EUR][1000 genomes]
rs6927710	0.84[EUR][1000 genomes]
rs6929358	0.85[EUR][1000 genomes]
rs6931444	0.80[EUR][1000 genomes]
rs7750156	0.90[CEU][hapmap];0.86[EUR][1000 genomes]
rs7752768	0.87[EUR][1000 genomes]
rs7756945	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7760765	0.87[EUR][1000 genomes]
rs7765880	0.80[EUR][1000 genomes]
rs7766314	0.80[EUR][1000 genomes]
rs885184	0.86[EUR][1000 genomes]
rs911568	0.84[EUR][1000 genomes]
rs911569	0.84[EUR][1000 genomes]
rs914047	0.86[EUR][1000 genomes]
rs9378872	0.80[EUR][1000 genomes]
rs9378873	0.81[EUR][1000 genomes]
rs9378876	0.87[EUR][1000 genomes]
rs9392046	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9392047	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9392594	0.80[EUR][1000 genomes]
rs9504073	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:32 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv600861	chr6:4238488-4469641	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv462618	chr6:4238488-4472587	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv600862	chr6:4238488-4472587	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv949364	chr6:4253413-4466981	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv600863	chr6:4255387-4472587	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	nsv1027498	chr6:4255640-4471635	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
7	esv2763995	chr6:4255640-4474114	Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
8	nsv1020205	chr6:4255640-4474114	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
9	nsv600864	chr6:4255708-4464630	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
10	nsv516402	chr6:4255708-4472587	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
11	nsv462619	chr6:4255708-4472587	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
12	nsv600865	chr6:4255708-4472587	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
13	nsv462620	chr6:4255708-4481421	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
14	nsv600866	chr6:4255708-4481421	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
15	nsv600867	chr6:4255725-4464630	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
16	nsv462621	chr6:4255725-4472587	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
17	nsv600868	chr6:4255725-4472587	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
18	nsv1029501	chr6:4255745-4471635	Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
19	nsv432845	chr6:4255905-4471472	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
20	nsv1030655	chr6:4257190-4473701	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
21	nsv538108	chr6:4257190-4473701	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
22	nsv1030840	chr6:4257390-4473562	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
23	nsv538109	chr6:4257390-4473562	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
24	nsv1026890	chr6:4259075-4471635	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
25	nsv1030588	chr6:4264933-4455210	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
26	nsv1021257	chr6:4264933-4473384	Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
27	nsv538110	chr6:4264933-4473384	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
28	nsv916553	chr6:4269714-4437920	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
29	nsv1016621	chr6:4277411-4473384	Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
30	nsv883413	chr6:4371622-4474114	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
31	nsv1021743	chr6:4382308-4494308	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
32	nsv538111	chr6:4382308-4494308	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:4436000-4436800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr6:4436000-4436800	Enhancers	Fetal Heart	heart
3	chr6:4436000-4437200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr6:4436000-4437200	Enhancers	NHEK	skin
5	chr6:4436000-4437400	Enhancers	HMEC	breast
6	chr6:4436200-4436600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr6:4436200-4436800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr6:4436200-4436800	Enhancers	Breast Myoepithelial Primary Cells	Breast

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