Variant report

Variant	rs16952586
Chromosome Location	chr18:7853781-7853782
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	chr18:7850877..7852810-chr18:7852966..7855500,2	K562	blood:
2	chr18:7849859..7852810-chr18:7852966..7855676,3	K562	blood:

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10153443	1.00[CHB][hapmap]
rs11874030	1.00[EUR][1000 genomes]
rs11875998	1.00[EUR][1000 genomes]
rs12326176	1.00[CHB][hapmap]
rs12326185	1.00[CHB][hapmap]
rs12954431	1.00[CHB][hapmap]
rs12956961	1.00[CHB][hapmap]
rs12957388	1.00[CHB][hapmap]
rs12957993	1.00[CHB][hapmap]
rs1373180	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1443606	1.00[EUR][1000 genomes]
rs16952705	1.00[CHB][hapmap]
rs16952722	1.00[CHB][hapmap]
rs2889681	1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56166372	1.00[EUR][1000 genomes]
rs57881458	1.00[EUR][1000 genomes]
rs58012227	1.00[EUR][1000 genomes]
rs59478955	1.00[EUR][1000 genomes]
rs60568466	1.00[EUR][1000 genomes]
rs7239786	1.00[CHB][hapmap]
rs7240582	1.00[CHB][hapmap]
rs7244492	1.00[EUR][1000 genomes]
rs73393528	1.00[EUR][1000 genomes]
rs73393529	1.00[EUR][1000 genomes]
rs73393534	1.00[EUR][1000 genomes]
rs8087770	1.00[CHB][hapmap]
rs8087884	1.00[CHB][hapmap]
rs9948903	1.00[EUR][1000 genomes]
rs9950569	1.00[EUR][1000 genomes]
rs9952741	1.00[CHB][hapmap]
rs9966320	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534374	chr18:7438812-8412546	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv458016	chr18:7488133-7934001	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv576399	chr18:7488133-7934001	Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	esv2762810	chr18:7492090-7924728	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1062911	chr18:7561991-8088274	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv543637	chr18:7561991-8088274	Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv1064345	chr18:7562051-8088274	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription 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
8	nsv543638	chr18:7562051-8088274	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv576425	chr18:7747873-7859757	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:7844000-7855200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr18:7844600-7855200	Weak transcription	Aorta	Aorta
3	chr18:7844800-7854200	Weak transcription	A549	lung
4	chr18:7844800-7856600	Weak transcription	Thymus	Thymus
5	chr18:7845000-7856800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr18:7846600-7855200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr18:7846600-7855200	Weak transcription	Colon Smooth Muscle	Colon
8	chr18:7847400-7856400	Weak transcription	Left Ventricle	heart
9	chr18:7847400-7857600	Weak transcription	Lung	lung
10	chr18:7848000-7856800	Weak transcription	Right Ventricle	heart
11	chr18:7849800-7855200	Weak transcription	Psoas Muscle	Psoas
12	chr18:7850600-7855000	Weak transcription	Hela-S3	cervix
13	chr18:7853400-7855600	Enhancers	Fetal Heart	heart
14	chr18:7853400-7856400	Weak transcription	Right Atrium	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links