Variant report

Variant	rs12002008
Chromosome Location	chr9:97388746-97388747
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	chr9:97334835..97337709-chr9:97386591..97389004,2	MCF-7	breast:
2	chr2:70312789..70315252-chr9:97388486..97391200,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000179818	Chromatin interaction
ENSG00000169564	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10993250	1.00[EUR][1000 genomes]
rs12000108	1.00[EUR][1000 genomes]
rs12000176	0.99[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12000612	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12002713	1.00[EUR][1000 genomes]
rs12005954	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12006551	1.00[EUR][1000 genomes]
rs12115356	1.00[EUR][1000 genomes]
rs2149721	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28369686	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28369687	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28369689	1.00[AMR][1000 genomes]
rs28369690	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28382861	1.00[EUR][1000 genomes]
rs28382862	1.00[EUR][1000 genomes]
rs28402369	1.00[EUR][1000 genomes]
rs28402375	1.00[EUR][1000 genomes]
rs3864789	1.00[EUR][1000 genomes]
rs3864790	1.00[EUR][1000 genomes]
rs5018586	1.00[EUR][1000 genomes]
rs56852311	1.00[EUR][1000 genomes]
rs57746346	1.00[EUR][1000 genomes]
rs59268947	1.00[EUR][1000 genomes]
rs59707858	1.00[EUR][1000 genomes]
rs60065676	1.00[EUR][1000 genomes]
rs61032874	1.00[EUR][1000 genomes]
rs61465993	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7023425	1.00[EUR][1000 genomes]
rs7034833	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7036264	1.00[EUR][1000 genomes]
rs7044193	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7851510	1.00[EUR][1000 genomes]
rs7853756	1.00[EUR][1000 genomes]
rs7856539	1.00[AMR][1000 genomes]
rs7856901	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7861787	1.00[EUR][1000 genomes]
rs7862669	1.00[EUR][1000 genomes]
rs7871076	1.00[EUR][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	nsv1041195	chr9:97054795-97402378	Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv893596	chr9:97321172-97598966	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
3	nsv614918	chr9:97380597-97412037	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv893597	chr9:97380597-97463435	Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:97371400-97401000	Weak transcription	Spleen	Spleen
2	chr9:97374600-97392600	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr9:97374600-97393400	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr9:97381400-97389800	Weak transcription	Pancreas	Pancrea
5	chr9:97381400-97400400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr9:97381600-97401000	Weak transcription	Right Atrium	heart
7	chr9:97382600-97392800	Weak transcription	Lung	lung
8	chr9:97382600-97393000	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr9:97382800-97399400	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr9:97383800-97390200	Strong transcription	Fetal Intestine Small	intestine
11	chr9:97385800-97392800	Weak transcription	Fetal Lung	lung
12	chr9:97386000-97389800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr9:97387200-97389000	Genic enhancers	Liver	Liver
14	chr9:97387400-97390000	Weak transcription	Stomach Mucosa	stomach
15	chr9:97387600-97389000	Strong transcription	Duodenum Mucosa	Duodenum
16	chr9:97387600-97393200	Weak transcription	Fetal Stomach	stomach
17	chr9:97388200-97388800	Enhancers	Fetal Thymus	thymus
18	chr9:97388200-97389800	Weak transcription	Fetal Intestine Large	intestine
19	chr9:97388400-97389800	Weak transcription	Gastric	stomach
20	chr9:97388400-97392600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr9:97388600-97389600	Weak transcription	Monocytes-CD14+_RO01746	blood

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