Variant report

Variant	rs12530250
Chromosome Location	chr6:12911965-12911966
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs12526453	1.00[JPT][hapmap]
rs13197912	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13201878	1.00[JPT][hapmap]
rs13219256	1.00[JPT][hapmap]
rs1332841	1.00[JPT][hapmap]
rs1332844	0.87[EUR][1000 genomes]
rs1332845	1.00[JPT][hapmap]
rs1332847	1.00[JPT][hapmap]
rs1360579	1.00[JPT][hapmap]
rs1537340	1.00[JPT][hapmap]
rs17679501	1.00[JPT][hapmap]
rs2327620	0.88[EUR][1000 genomes]
rs2327621	1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2876303	0.80[EUR][1000 genomes]
rs34343839	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35355695	0.81[EUR][1000 genomes]
rs4131857	1.00[JPT][hapmap]
rs4331981	1.00[JPT][hapmap]
rs4711857	1.00[JPT][hapmap]
rs4711858	1.00[JPT][hapmap]
rs4711863	1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4714946	1.00[JPT][hapmap]
rs4714951	1.00[JPT][hapmap]
rs4714955	1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62386818	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62389955	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6911226	0.89[EUR][1000 genomes]
rs6915983	0.89[EUR][1000 genomes]
rs6925904	0.88[EUR][1000 genomes]
rs71562459	0.80[EUR][1000 genomes]
rs7454157	0.88[EUR][1000 genomes]
rs7739181	1.00[JPT][hapmap]
rs7750679	0.88[EUR][1000 genomes]
rs7751826	0.89[EUR][1000 genomes]
rs7760016	0.88[EUR][1000 genomes]
rs7760527	0.88[EUR][1000 genomes]
rs7775901	1.00[JPT][hapmap]
rs8180558	1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9296512	0.87[EUR][1000 genomes]
rs9369640	0.89[EUR][1000 genomes]
rs9381494	0.86[EUR][1000 genomes]
rs9381500	1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9395214	0.86[EUR][1000 genomes]
rs9472777	1.00[JPT][hapmap]
rs9472786	1.00[JPT][hapmap]
rs9473086	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3521000	chr6:12561306-13128519	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	esv3521001	chr6:12561306-13128519	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv830587	chr6:12769661-12939875	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv830588	chr6:12793530-12972493	Enhancers Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:12906000-12912000	Weak transcription	Aorta	Aorta
2	chr6:12909800-12912200	Enhancers	Fetal Heart	heart
3	chr6:12910200-12912200	Enhancers	Brain Germinal Matrix	brain
4	chr6:12910400-12913400	Weak transcription	Left Ventricle	heart
5	chr6:12911000-12912000	Weak transcription	Fetal Brain Female	brain
6	chr6:12911000-12912200	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr6:12911000-12912200	Enhancers	Fetal Brain Male	brain
8	chr6:12911200-12912000	Weak transcription	Brain Angular Gyrus	brain
9	chr6:12911200-12912200	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr6:12911200-12912200	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr6:12911200-12912200	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr6:12911200-12912200	Enhancers	Brain Hippocampus Middle	brain
13	chr6:12911200-12918000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr6:12911400-12912000	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr6:12911400-12912200	Enhancers	H1 Cell Line	embryonic stem cell
16	chr6:12911400-12912200	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr6:12911400-12912200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr6:12911400-12912200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr6:12911400-12912800	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr6:12911600-12912000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr6:12911600-12912200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
22	chr6:12911600-12912200	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr6:12911600-12912200	Enhancers	Colon Smooth Muscle	Colon
24	chr6:12911800-12912200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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