Variant report

Variant	rs11962707
Chromosome Location	chr6:4581728-4581729
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	chr6:4581473..4584314-chr6:4877773..4880239,2	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs11962071	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11963606	0.95[ASN][1000 genomes]
rs17138481	0.94[ASN][1000 genomes]
rs17138491	0.95[EUR][1000 genomes]
rs17138531	0.98[ASN][1000 genomes]
rs2016920	0.94[ASN][1000 genomes]
rs55707514	0.90[EUR][1000 genomes]
rs55716151	0.85[EUR][1000 genomes]
rs58440707	0.97[ASN][1000 genomes]
rs58901337	0.98[ASN][1000 genomes]
rs59123449	1.00[ASN][1000 genomes]
rs59668969	0.94[ASN][1000 genomes]
rs61626939	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61693763	0.91[ASN][1000 genomes]
rs73359389	0.94[ASN][1000 genomes]
rs73717395	0.95[EUR][1000 genomes]
rs73717396	0.95[EUR][1000 genomes]
rs73717398	0.95[EUR][1000 genomes]
rs73717400	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73717401	0.95[EUR][1000 genomes]
rs73719810	0.95[EUR][1000 genomes]
rs73719818	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73719819	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73719820	0.95[EUR][1000 genomes]
rs73719822	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7751465	0.92[ASN][1000 genomes]
rs7755263	0.94[ASN][1000 genomes]
rs7764506	0.94[ASN][1000 genomes]
rs7768719	0.94[ASN][1000 genomes]

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	esv3421990	chr6:4446933-4659639	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv830576	chr6:4447554-4610604	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	esv3366530	chr6:4471528-4865322	ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv883415	chr6:4546491-4629654	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:4568400-4581800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr6:4572600-4581800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr6:4574600-4582200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr6:4574800-4581800	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr6:4578200-4581800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr6:4578200-4582200	Weak transcription	A549	lung
7	chr6:4578400-4581800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr6:4578400-4581800	Weak transcription	Brain Cingulate Gyrus	brain
9	chr6:4578400-4581800	Weak transcription	Brain Substantia Nigra	brain
10	chr6:4578400-4581800	Weak transcription	NHDF-Ad	bronchial
11	chr6:4578400-4582000	Weak transcription	Brain Hippocampus Middle	brain
12	chr6:4578600-4581800	Weak transcription	Fetal Heart	heart
13	chr6:4578600-4582400	Weak transcription	Brain Angular Gyrus	brain
14	chr6:4580400-4581800	Weak transcription	Placenta	Placenta
15	chr6:4581400-4581800	Enhancers	HUVEC	blood vessel
16	chr6:4581400-4581800	Enhancers	Osteobl	bone
17	chr6:4581400-4583600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr6:4581400-4583600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr6:4581400-4583800	Enhancers	NHEK	skin
20	chr6:4581600-4581800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr6:4581600-4582200	Flanking Active TSS	NH-A	brain
22	chr6:4581600-4582400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr6:4581600-4582800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr6:4581600-4583600	Enhancers	HMEC	breast
25	chr6:4581600-4583600	Enhancers	HSMM	muscle
26	chr6:4581600-4583800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr6:4581600-4584000	Enhancers	Muscle Satellite Cultured Cells	--
28	chr6:4581600-4584200	Enhancers	Adipose Nuclei	Adipose
29	chr6:4581600-4584200	Enhancers	Hela-S3	cervix
30	chr6:4581600-4584200	Enhancers	NHLF	lung
31	chr6:4581600-4584400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr6:4581600-4586200	Weak transcription	Placenta Amnion	Placenta Amnion

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links