Variant report

Variant	rs2186777
Chromosome Location	chr11:71219803-71219804
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:71157948..71159968-chr11:71219705..71221725,2	MCF-7	breast:
2	chr11:71214959..71216939-chr11:71218643..71221307,2	K562	blood:
3	chr11:71214307..71215980-chr11:71218058..71219909,2	K562	blood:

Variant related genes	Relation type
ENSG00000172893	Chromatin interaction
ENSG00000172890	Chromatin interaction
ENSG00000254682	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 10 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11234014	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35708376	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4245442	1.00[CEU][hapmap];0.82[CHB][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7118246	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7925331	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7926180	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7938023	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7940244	1.00[CEU][hapmap];0.82[CHB][hapmap];0.83[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7944274	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9705153	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[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	nsv1048123	chr11:70795222-71231382	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	21 gene(s)	inside rSNPs	diseases
2	nsv530623	chr11:71088949-72020418	Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	134 gene(s)	inside rSNPs	diseases
3	nsv468632	chr11:71200320-71289089	Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv555402	chr11:71200320-71289089	Strong transcription Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:10)

SNP	Gene	Cis/trans	Tissue	Source
rs2186777	RP11-660L16.2	cis	Muscle Skeletal	GTEx
rs2186777	RP11-660L16.2	cis	Thyroid	GTEx
rs2186777	RP11-660L16.2	cis	Heart Left Ventricle	GTEx
rs2186777	RP11-660L16.2	cis	Adipose Subcutaneous	GTEx
rs2186777	RP11-660L16.2	cis	Esophagus Muscularis	GTEx
rs2186777	RP11-660L16.2	cis	Whole Blood	GTEx
rs2186777	NADSYN1	cis	Nerve Tibial	GTEx
rs2186777	RP11-660L16.2	cis	Nerve Tibial	GTEx
rs2186777	RP11-660L16.2	cis	Artery Aorta	GTEx
rs2186777	RP11-660L16.2	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:71210400-71220200	Weak transcription	NHEK	skin
2	chr11:71211800-71220600	Weak transcription	NH-A	brain
3	chr11:71211800-71232400	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr11:71212000-71220600	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr11:71213000-71220800	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr11:71213200-71220600	Weak transcription	Colon Smooth Muscle	Colon
7	chr11:71213200-71232200	Weak transcription	Brain Angular Gyrus	brain
8	chr11:71214600-71220000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr11:71215000-71222400	Weak transcription	HSMM	muscle
10	chr11:71215600-71220600	Weak transcription	Colonic Mucosa	Colon
11	chr11:71215600-71236600	Weak transcription	Brain Anterior Caudate	brain
12	chr11:71216000-71220000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr11:71216400-71235400	Weak transcription	Brain Substantia Nigra	brain
14	chr11:71217000-71222000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr11:71217400-71220400	Weak transcription	Adipose Nuclei	Adipose
16	chr11:71217400-71220400	Weak transcription	Fetal Intestine Large	intestine
17	chr11:71217800-71220000	Weak transcription	Duodenum Mucosa	Duodenum
18	chr11:71217800-71221000	Weak transcription	Liver	Liver
19	chr11:71217800-71221800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr11:71218000-71220400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr11:71218000-71220600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr11:71218000-71220600	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr11:71218000-71220600	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr11:71218400-71221000	Weak transcription	Fetal Intestine Small	intestine
25	chr11:71218400-71221200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links