Variant report

Variant	rs4768771
Chromosome Location	chr12:47467364-47467365
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	chr12:47465851..47467371-chr12:47472405..47474661,2	K562	blood:
2	chr12:47417417..47420074-chr12:47466882..47469714,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000179715	Chromatin interaction
ENSG00000139211	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10736030	1.00[YRI][hapmap]
rs10785650	1.00[YRI][hapmap]
rs1101753	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7961460	1.00[YRI][hapmap]
rs854888	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs854889	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs854890	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv469368	chr12:47374908-47675680	Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv558784	chr12:47374908-47675680	Genic enhancers Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv694	chr12:47460716-47473382	Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:47460400-47469600	Weak transcription	HSMM	muscle
2	chr12:47460800-47469000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr12:47460800-47469000	Weak transcription	Ovary	ovary
4	chr12:47460800-47470400	Weak transcription	Rectal Smooth Muscle	rectum
5	chr12:47460800-47471800	Weak transcription	Fetal Intestine Small	intestine
6	chr12:47461800-47470000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr12:47462600-47471400	Weak transcription	Lung	lung
8	chr12:47462800-47471200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr12:47463000-47468800	Weak transcription	NH-A	brain
10	chr12:47463200-47469800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr12:47463200-47471400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr12:47463400-47469200	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr12:47463400-47472400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr12:47463800-47469400	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr12:47463800-47469800	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr12:47464000-47469600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr12:47464000-47471000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr12:47464400-47469000	Weak transcription	Colon Smooth Muscle	Colon
19	chr12:47465000-47468600	Enhancers	A549	lung
20	chr12:47465200-47469600	Weak transcription	Aorta	Aorta
21	chr12:47465200-47471200	Weak transcription	Pancreas	Pancrea
22	chr12:47465800-47468000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr12:47465800-47469400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links