Variant report

Variant	rs12666371
Chromosome Location	chr7:120663044-120663045
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:120662581..120666417-chr7:120714540..120719894,6	K562	blood:
2	chr7:120661476..120663248-chr7:120721625..120723394,2	K562	blood:
3	chr7:120660852..120665277-chr7:120680137..120683898,4	K562	blood:
4	chr7:120662342..120664104-chr7:120692798..120695619,2	K562	blood:

Variant related genes	Relation type
ENSG00000106034	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10245811	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11976117	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12671499	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12673175	0.92[AFR][1000 genomes]
rs16870531	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41696	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs41699	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs41700	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs41701	0.99[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs41705	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4730984	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62470917	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7782014	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7802570	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7802665	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831114	chr7:120595624-120804510	Weak transcription Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv608327	chr7:120633006-120873078	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	esv2753621	chr7:120635049-120800049	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1030988	chr7:120636796-120672504	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv1023611	chr7:120638930-120881658	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv1025430	chr7:120638930-121179289	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
7	nsv1030792	chr7:120662815-120917533	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:120637200-120663600	Weak transcription	Right Ventricle	heart
2	chr7:120649400-120663600	Weak transcription	Left Ventricle	heart
3	chr7:120652800-120663800	Weak transcription	Small Intestine	intestine
4	chr7:120653400-120663600	Weak transcription	Psoas Muscle	Psoas
5	chr7:120654800-120663600	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr7:120656000-120663600	Weak transcription	Ovary	ovary
7	chr7:120656000-120668000	Weak transcription	Right Atrium	heart
8	chr7:120657000-120663600	Enhancers	Hela-S3	cervix
9	chr7:120657800-120663600	Weak transcription	Aorta	Aorta
10	chr7:120657800-120666400	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr7:120658000-120663600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr7:120658000-120665600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr7:120659600-120663200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr7:120659800-120663800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr7:120660400-120664200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr7:120660600-120663200	Enhancers	Monocytes-CD14+_RO01746	blood
17	chr7:120660600-120663400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr7:120660800-120663800	Enhancers	Rectal Smooth Muscle	rectum
19	chr7:120660800-120665000	Enhancers	Liver	Liver
20	chr7:120660800-120665200	Enhancers	Colon Smooth Muscle	Colon
21	chr7:120661000-120663600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr7:120661000-120668000	Weak transcription	HSMMtube	muscle
23	chr7:120661200-120663200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr7:120661200-120664000	Weak transcription	NH-A	brain
25	chr7:120661400-120664000	Strong transcription	HSMM	muscle
26	chr7:120661600-120663600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr7:120661600-120669400	Genic enhancers	K562	blood
28	chr7:120661800-120663600	Weak transcription	Adipose Nuclei	Adipose
29	chr7:120661800-120663600	Weak transcription	Stomach Smooth Muscle	stomach
30	chr7:120661800-120663600	Weak transcription	Osteobl	bone
31	chr7:120662000-120663400	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr7:120662000-120663600	Weak transcription	HUVEC	blood vessel
33	chr7:120662000-120665200	Enhancers	Duodenum Smooth Muscle	Duodenum
34	chr7:120662000-120668000	Weak transcription	Fetal Stomach	stomach
35	chr7:120662200-120663200	Weak transcription	NHLF	lung
36	chr7:120662400-120663800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr7:120662600-120663200	Weak transcription	Fetal Lung	lung
38	chr7:120662600-120663600	Enhancers	NHDF-Ad	bronchial
39	chr7:120662600-120663800	Enhancers	Fetal Intestine Large	intestine
40	chr7:120662600-120664000	Enhancers	Skeletal Muscle Female	skeletal muscle
41	chr7:120662800-120663200	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr7:120662800-120663800	Weak transcription	Fetal Kidney	kidney
43	chr7:120662800-120664600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr7:120663000-120664600	Enhancers	Fetal Heart	heart

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