Variant report

Variant	rs13208146
Chromosome Location	chr6:54804879-54804880
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	chr6:54803157..54805605-chr6:54807269..54808887,2	K562	blood:

Variant related genes	Relation type
ENSG00000261116	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs13191783	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13192880	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs13196537	0.85[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs13200567	1.00[EUR][1000 genomes]
rs13201525	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13202991	1.00[EUR][1000 genomes]
rs13203892	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13204748	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13207382	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13210210	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13211183	1.00[EUR][1000 genomes]
rs13218015	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs34015457	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34187954	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs34202476	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs34321112	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs34327080	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34602564	1.00[EUR][1000 genomes]
rs34841798	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs34896294	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs34920015	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs34950463	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs35071440	1.00[AMR][1000 genomes]
rs35081106	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs35094736	1.00[EUR][1000 genomes]
rs35124020	0.87[EUR][1000 genomes]
rs35253545	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs35326632	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35729004	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs35908115	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35925278	0.87[EUR][1000 genomes]
rs36030916	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs36062413	1.00[EUR][1000 genomes]
rs36115210	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs4524608	1.00[EUR][1000 genomes]
rs71560864	1.00[AMR][1000 genomes]
rs71560876	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71560878	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71560879	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71560885	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs71560887	0.86[EUR][1000 genomes]
rs7747706	1.00[EUR][1000 genomes]
rs7767204	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv885900	chr6:54517968-54852462	Active TSS Bivalent Enhancer Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	esv2763553	chr6:54687979-54820487	Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:54785600-54805000	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr6:54789800-54810200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr6:54797000-54811800	Weak transcription	Esophagus	oesophagus
4	chr6:54798800-54815600	Weak transcription	Fetal Intestine Small	intestine
5	chr6:54800400-54807600	Weak transcription	Small Intestine	intestine
6	chr6:54801000-54805000	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr6:54802200-54809600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr6:54802600-54810800	Weak transcription	Pancreas	Pancrea
9	chr6:54804200-54807800	Strong transcription	NHEK	skin
10	chr6:54804400-54806600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr6:54804400-54807400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr6:54804600-54805400	Strong transcription	Rectal Mucosa Donor 31	rectum
13	chr6:54804600-54805600	Strong transcription	Duodenum Mucosa	Duodenum
14	chr6:54804600-54806800	Strong transcription	HMEC	breast
15	chr6:54804600-54809200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
16	chr6:54804800-54805200	Strong transcription	Fetal Intestine Large	intestine
17	chr6:54804800-54805600	Strong transcription	Hela-S3	cervix

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