Variant report

Variant	rs12673764
Chromosome Location	chr7:111668857-111668858
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:111666586..111669404-chr7:111670098..111671615,2	K562	blood:
2	chr7:111667061..111669402-chr7:111698388..111701090,2	K562	blood:

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10242194	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10242337	0.96[ASN][1000 genomes]
rs10247033	0.95[ASN][1000 genomes]
rs10258545	0.94[ASN][1000 genomes]
rs10261950	0.94[ASN][1000 genomes]
rs10279995	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12671036	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12673819	0.87[ASN][1000 genomes]
rs2894634	0.86[JPT][hapmap]
rs4730506	0.96[ASN][1000 genomes]
rs4730507	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4730508	0.85[ASN][1000 genomes]
rs55864601	0.86[ASN][1000 genomes]
rs58373588	0.85[ASN][1000 genomes]
rs6466396	0.98[ASN][1000 genomes]
rs7778864	0.86[ASN][1000 genomes]
rs7791324	0.90[JPT][hapmap]
rs7793681	0.95[ASN][1000 genomes]
rs7797442	0.92[ASN][1000 genomes]
rs7802310	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7802845	0.90[JPT][hapmap]
rs7808571	0.86[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv608196	chr7:111073710-111794368	Enhancers Strong transcription Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	nsv1021527	chr7:111194596-111851619	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv539086	chr7:111194596-111851619	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	nsv1028740	chr7:111227747-111679401	Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv1015267	chr7:111303294-111714771	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv539087	chr7:111303294-111714771	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv539088	chr7:111333899-111722341	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	nsv531435	chr7:111333900-111926292	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
9	nsv491934	chr7:111333900-111975504	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
10	nsv532335	chr7:111411990-112054905	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
11	nsv533924	chr7:111529515-111784369	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
12	nsv1023261	chr7:111593889-111780337	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
13	nsv1016663	chr7:111622107-111813223	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
14	nsv1034249	chr7:111656902-111748774	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
15	nsv539089	chr7:111656902-111748774	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
16	nsv889054	chr7:111666943-111739842	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:111649400-111673800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr7:111654600-111673400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr7:111662600-111671200	Weak transcription	Fetal Lung	lung
4	chr7:111664600-111669600	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr7:111665400-111669600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr7:111665800-111669400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr7:111665800-111672600	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr7:111665800-111672800	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr7:111666000-111669600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr7:111666400-111672600	Weak transcription	HUVEC	blood vessel
11	chr7:111666400-111673600	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr7:111666400-111674600	Weak transcription	Lung	lung
13	chr7:111667800-111669000	Enhancers	Brain Substantia Nigra	brain
14	chr7:111667800-111674400	Enhancers	Brain Hippocampus Middle	brain
15	chr7:111668000-111669400	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr7:111668000-111669400	Enhancers	Brain Cingulate Gyrus	brain
17	chr7:111668000-111669800	Enhancers	Brain Inferior Temporal Lobe	brain
18	chr7:111668000-111670400	Enhancers	Brain Angular Gyrus	brain
19	chr7:111668200-111669200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
20	chr7:111668400-111669400	Enhancers	Brain Anterior Caudate	brain
21	chr7:111668600-111669400	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr7:111668800-111672600	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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