Variant report

Variant	rs6488022
Chromosome Location	chr12:32143791-32143792
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	chr12:32138789..32140299-chr12:32142028..32144820,2	K562	blood:
2	chr12:32111364..32113470-chr12:32143202..32145757,3	K562	blood:

Variant related genes	Relation type
ENSG00000174718	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10844088	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11051700	0.90[AMR][1000 genomes]
rs11051707	1.00[CHB][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11051708	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11051715	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11051718	1.00[CHB][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11051723	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11612457	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12368692	1.00[CHB][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12827942	1.00[CHB][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35407118	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35511352	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35717950	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7298088	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7298803	1.00[CHB][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7957981	1.00[CHB][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7958057	1.00[CHB][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv558100	chr12:31866833-32185924	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv1045464	chr12:31869888-32183792	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv541447	chr12:31869888-32183792	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	esv3363806	chr12:31872264-32410283	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
5	esv3508621	chr12:31872654-32410593	Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
6	esv3508622	chr12:31872654-32410593	Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
7	esv3430326	chr12:32142734-32216569	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
8	esv3410287	chr12:32142734-32219420	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:32114000-32150800	Weak transcription	NHLF	lung
2	chr12:32123200-32143800	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
3	chr12:32128800-32150600	Weak transcription	Hela-S3	cervix
4	chr12:32130400-32150200	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr12:32132800-32147200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr12:32134800-32149400	Weak transcription	Esophagus	oesophagus
7	chr12:32134800-32149800	Weak transcription	Pancreas	Pancrea
8	chr12:32134800-32151000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr12:32134800-32155400	Weak transcription	NHDF-Ad	bronchial
10	chr12:32135000-32147800	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr12:32135000-32148600	Weak transcription	Brain Hippocampus Middle	brain
12	chr12:32135000-32149200	Weak transcription	Brain Substantia Nigra	brain
13	chr12:32135000-32149800	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr12:32135000-32149800	Weak transcription	Colon Smooth Muscle	Colon
15	chr12:32135000-32150000	Weak transcription	Right Ventricle	heart
16	chr12:32135000-32150200	Weak transcription	Rectal Smooth Muscle	rectum
17	chr12:32135000-32150800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr12:32135000-32156000	Weak transcription	Brain Cingulate Gyrus	brain
19	chr12:32135000-32156400	Weak transcription	Gastric	stomach
20	chr12:32135200-32148200	Weak transcription	Brain Angular Gyrus	brain
21	chr12:32135600-32148800	Weak transcription	Stomach Smooth Muscle	stomach
22	chr12:32136000-32150000	Weak transcription	Aorta	Aorta
23	chr12:32136000-32150600	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr12:32136000-32155000	Weak transcription	HSMMtube	muscle
25	chr12:32136200-32144200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr12:32136200-32150600	Weak transcription	Psoas Muscle	Psoas
27	chr12:32136200-32155400	Weak transcription	Osteobl	bone
28	chr12:32136400-32151000	Weak transcription	NH-A	brain
29	chr12:32136600-32144800	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr12:32136600-32149600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr12:32136600-32150800	Weak transcription	HSMM	muscle
32	chr12:32137200-32158600	Weak transcription	HUVEC	blood vessel
33	chr12:32137600-32151400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
34	chr12:32137800-32147400	Weak transcription	Primary hematopoietic stem cells	blood
35	chr12:32138200-32146600	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr12:32138200-32147800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr12:32138400-32148800	Weak transcription	Fetal Kidney	kidney
38	chr12:32138400-32149200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
39	chr12:32139000-32145400	Weak transcription	HepG2	liver
40	chr12:32139200-32145800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr12:32139200-32153800	Strong transcription	HUES64 Cell Line	embryonic stem cell
42	chr12:32139200-32154400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr12:32139600-32145400	Strong transcription	Monocytes-CD14+_RO01746	blood
44	chr12:32139600-32146400	Strong transcription	Primary B cells from peripheral blood	blood
45	chr12:32139800-32153800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
46	chr12:32139800-32154200	Strong transcription	HUES48 Cell Line	embryonic stem cell
47	chr12:32140000-32146000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
48	chr12:32140200-32156200	Strong transcription	Primary neutrophils fromperipheralblood	blood
49	chr12:32140400-32143800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr12:32140400-32144800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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