Variant report

Variant	rs12942011
Chromosome Location	chr17:67078806-67078807
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:67076831..67080941-chr17:67082986..67085538,3	K562	blood:

Variant related genes	Relation type
ENSG00000154262	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11077942	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11654867	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11657954	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11659091	0.86[EUR][1000 genomes]
rs12453921	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12942993	0.99[ASN][1000 genomes]
rs1974575	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2098034	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2302132	0.87[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2302133	0.87[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2302134	0.96[EUR][1000 genomes]
rs2302290	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2364315	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4968833	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4968995	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs740517	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs763920	0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9282552	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9914684	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1067334	chr17:66695039-67221585	Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
2	nsv543411	chr17:66695039-67221585	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
3	nsv833526	chr17:66980758-67137034	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1066998	chr17:67060038-67090475	Weak transcription Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv908705	chr17:67061898-67112456	Weak transcription Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS	TF binding region Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:67065600-67088600	Weak transcription	Pancreas	Pancrea
2	chr17:67067200-67099600	Weak transcription	Gastric	stomach
3	chr17:67067200-67111600	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr17:67070200-67079000	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr17:67071800-67091400	Weak transcription	Brain Anterior Caudate	brain
6	chr17:67074600-67083800	Strong transcription	Skeletal Muscle Female	skeletal muscle
7	chr17:67075200-67081200	Strong transcription	Skeletal Muscle Male	skeletal muscle
8	chr17:67075600-67085600	Strong transcription	Fetal Lung	lung
9	chr17:67075800-67079000	Weak transcription	Duodenum Mucosa	Duodenum
10	chr17:67076600-67079200	Weak transcription	Fetal Stomach	stomach
11	chr17:67076800-67109800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr17:67077600-67082600	Weak transcription	Brain Angular Gyrus	brain
13	chr17:67077800-67137800	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr17:67078000-67079400	ZNF genes & repeats	Left Ventricle	heart
15	chr17:67078000-67079400	ZNF genes & repeats	Right Ventricle	heart
16	chr17:67078000-67080000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr17:67078000-67080400	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr17:67078000-67081200	Strong transcription	Fetal Muscle Leg	muscle
19	chr17:67078400-67081200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr17:67078600-67079600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
21	chr17:67078600-67079600	Strong transcription	Pancreatic Islets	Pancreatic Islet
22	chr17:67078600-67080800	ZNF genes & repeats	GM12878-XiMat	blood
23	chr17:67078600-67081200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr17:67078600-67081400	Strong transcription	Stomach Smooth Muscle	stomach
25	chr17:67078800-67079200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr17:67078800-67079400	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr17:67078800-67079400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr17:67078800-67079400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr17:67078800-67079400	ZNF genes & repeats	Adipose Nuclei	Adipose
30	chr17:67078800-67079400	ZNF genes & repeats	Liver	Liver
31	chr17:67078800-67079400	ZNF genes & repeats	Colon Smooth Muscle	Colon
32	chr17:67078800-67079400	Strong transcription	Fetal Muscle Trunk	muscle
33	chr17:67078800-67079400	ZNF genes & repeats	Ovary	ovary
34	chr17:67078800-67079400	ZNF genes & repeats	Psoas Muscle	Psoas
35	chr17:67078800-67079600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
36	chr17:67078800-67079600	ZNF genes & repeats	NHDF-Ad	bronchial
37	chr17:67078800-67080600	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr17:67078800-67081000	Weak transcription	Spleen	Spleen

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links