Variant report

Variant	rs2075335
Chromosome Location	chr12:47169262-47169263
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:47167274..47169486-chr12:47171150..47173434,2	K562	blood:
2	chr12:46885590..46888355-chr12:47169213..47171245,2	MCF-7	breast:
3	chr12:47168903..47170642-chr12:47170948..47173007,2	MCF-7	breast:
4	chr12:47162883..47165298-chr12:47167955..47169605,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000139209	Chromatin interaction

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

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

rs_ID	r²[population]
rs17097220	0.89[CHB][hapmap];0.81[AMR][1000 genomes]
rs17097286	1.00[CEU][hapmap];0.82[CHB][hapmap];0.81[ASN][1000 genomes]
rs17097341	1.00[CEU][hapmap];0.82[CHB][hapmap]
rs180404	0.89[CHB][hapmap]
rs180424	0.89[CHB][hapmap];0.81[CHD][hapmap];0.88[MEX][hapmap];0.81[AMR][1000 genomes]
rs180425	0.89[CHB][hapmap];0.82[CHD][hapmap];0.88[MEX][hapmap];0.81[AMR][1000 genomes]
rs2109125	1.00[CEU][hapmap];0.82[CHB][hapmap];0.82[CHD][hapmap]
rs2287473	1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2302855	1.00[CEU][hapmap];0.82[CHB][hapmap];0.85[CHD][hapmap];0.81[ASN][1000 genomes]
rs2429465	1.00[CEU][hapmap];0.81[ASN][1000 genomes]
rs2429466	1.00[CEU][hapmap];0.81[ASN][1000 genomes]
rs2429467	1.00[CEU][hapmap];0.82[CHB][hapmap];0.82[CHD][hapmap];0.81[ASN][1000 genomes]
rs2429470	0.82[CHB][hapmap]
rs2429471	0.81[CHB][hapmap]
rs2465586	1.00[CEU][hapmap];0.82[CHB][hapmap];0.81[ASN][1000 genomes]
rs2897981	1.00[CEU][hapmap];0.82[CHB][hapmap];0.82[CHD][hapmap]
rs7313706	1.00[YRI][hapmap]

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	nsv1049525	chr12:46721742-47264172	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
2	nsv541486	chr12:46721742-47264172	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
3	esv3416674	chr12:46988689-47178369	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	esv1845143	chr12:47051076-47431496	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv826361	chr12:47159545-47200894	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 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	chr12:47157400-47172800	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr12:47161600-47173200	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr12:47164200-47187800	Genic enhancers	Liver	Liver
4	chr12:47164800-47169600	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr12:47165200-47169400	Enhancers	Fetal Muscle Leg	muscle
6	chr12:47165200-47187200	Weak transcription	Fetal Kidney	kidney
7	chr12:47165600-47182000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr12:47165800-47169600	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr12:47166800-47169400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr12:47167000-47173200	Enhancers	HepG2	liver
11	chr12:47167200-47169400	Enhancers	Muscle Satellite Cultured Cells	--
12	chr12:47167800-47169400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr12:47168400-47177600	Weak transcription	NHLF	lung
14	chr12:47168400-47180800	Weak transcription	Pancreas	Pancrea
15	chr12:47168800-47169400	Enhancers	Psoas Muscle	Psoas
16	chr12:47169000-47173600	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr12:47169000-47177600	Weak transcription	HSMMtube	muscle
18	chr12:47169200-47169400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr12:47169200-47169400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr12:47169200-47171800	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr12:47169200-47175600	Strong transcription	HSMM	muscle

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