Variant report

Variant	rs17461712
Chromosome Location	chr11:16301315-16301316
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:16292606..16296428-chr11:16299635..16303061,5	K562	blood:
2	chr11:16289702..16293016-chr11:16300436..16303911,5	K562	blood:
3	chr11:16300243..16302575-chr11:16402868..16404616,2	K562	blood:
4	chr11:16299175..16301880-chr11:16312711..16315686,3	K562	blood:
5	chr11:16300623..16303536-chr11:16310934..16312660,2	K562	blood:
6	chr11:16296567..16299036-chr11:16300156..16302132,2	K562	blood:
7	chr11:16297975..16301797-chr11:16627660..16630721,4	K562	blood:

Variant related genes	Relation type
ENSG00000110693	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11023926	0.83[CEU][hapmap];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12417996	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12418276	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12418887	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12420134	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12420808	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12791361	1.00[CHB][hapmap];0.91[AFR][1000 genomes]
rs12800654	1.00[CHB][hapmap];0.91[AFR][1000 genomes]
rs1437635	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16932966	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17538814	1.00[CHB][hapmap];0.91[AFR][1000 genomes]
rs17552977	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17553733	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1827535	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1975299	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2118362	1.00[ASN][1000 genomes]
rs34281980	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34866095	1.00[ASN][1000 genomes]
rs35603256	1.00[ASN][1000 genomes]
rs61881676	0.83[AFR][1000 genomes]
rs61881739	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61881740	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61881741	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61881743	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61881745	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61883178	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61883179	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61883180	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61883181	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61883182	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61883184	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61883185	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61883187	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61883197	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7109139	1.00[ASN][1000 genomes]
rs7109376	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7127006	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs722747	1.00[CHB][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72869952	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7929530	0.86[CEU][hapmap];1.00[CHB][hapmap];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7933830	1.00[ASN][1000 genomes]
rs7936866	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs931774	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[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	nsv529731	chr11:16122782-16468170	Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv897013	chr11:16206658-16307700	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv553565	chr11:16220289-16307700	Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv897015	chr11:16235962-16307700	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	1 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	chr11:16286800-16314800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr11:16292400-16301600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr11:16296800-16301800	Weak transcription	Fetal Intestine Large	intestine
4	chr11:16298600-16302800	Weak transcription	Pancreas	Pancrea
5	chr11:16298800-16302000	Enhancers	Rectal Mucosa Donor 31	rectum
6	chr11:16299200-16301600	Weak transcription	Duodenum Mucosa	Duodenum
7	chr11:16299200-16301600	Enhancers	Rectal Mucosa Donor 29	rectum
8	chr11:16299600-16301600	Enhancers	NHEK	skin
9	chr11:16300200-16313400	Weak transcription	Brain Germinal Matrix	brain
10	chr11:16300400-16301600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr11:16300600-16301400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr11:16300800-16301600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr11:16300800-16302000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr11:16300800-16302000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr11:16300800-16302000	Weak transcription	Fetal Intestine Small	intestine
16	chr11:16300800-16314200	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr11:16301200-16302200	Active TSS	K562	blood

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