Variant report

Variant	rs56203216
Chromosome Location	chr12:31063313-31063314
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs11051136	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11051143	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12322523	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12828817	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs256700	1.00[ASN][1000 genomes]
rs2629426	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs33156	1.00[ASN][1000 genomes]
rs33159	1.00[ASN][1000 genomes]
rs33162	1.00[ASN][1000 genomes]
rs33166	1.00[ASN][1000 genomes]
rs33167	1.00[ASN][1000 genomes]
rs33168	1.00[ASN][1000 genomes]
rs33169	1.00[ASN][1000 genomes]
rs33172	1.00[ASN][1000 genomes]
rs33175	1.00[ASN][1000 genomes]
rs33179	1.00[ASN][1000 genomes]
rs33207	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs33209	0.91[EUR][1000 genomes]
rs33210	0.94[EUR][1000 genomes]
rs33211	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs33214	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs33215	0.94[EUR][1000 genomes]
rs33216	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs33217	0.93[EUR][1000 genomes]
rs33218	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34352926	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34397838	0.92[EUR][1000 genomes]
rs34634684	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35274629	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs671606	1.00[ASN][1000 genomes]
rs67353217	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs675206	1.00[ASN][1000 genomes]
rs7308140	0.80[AFR][1000 genomes]
rs73284434	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949148	chr12:30800040-31131712	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv1052957	chr12:30951520-31191197	Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv541439	chr12:30951520-31191197	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv1052869	chr12:30951520-31399162	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	esv2422447	chr12:30954811-31449815	Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
6	nsv832362	chr12:30957786-31124983	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv1053711	chr12:30959987-31156297	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv558030	chr12:30969675-31266287	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
9	nsv1041877	chr12:31009451-31809254	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
10	nsv541440	chr12:31009451-31809254	ZNF genes & repeats Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:31059000-31066200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr12:31060800-31065000	Enhancers	Fetal Stomach	stomach
3	chr12:31061200-31063400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr12:31061200-31063400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr12:31061200-31063400	Enhancers	NHDF-Ad	bronchial
6	chr12:31061200-31064200	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr12:31061400-31063400	Enhancers	Fetal Lung	lung
8	chr12:31061400-31063400	Enhancers	Fetal Muscle Leg	muscle
9	chr12:31061400-31063400	Enhancers	Ovary	ovary
10	chr12:31061600-31063400	Enhancers	H9 Cell Line	embryonic stem cell
11	chr12:31061600-31063400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr12:31061800-31063400	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr12:31061800-31063400	Enhancers	Adipose Nuclei	Adipose
14	chr12:31062200-31064600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr12:31062400-31064000	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr12:31062800-31066200	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr12:31063000-31063600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr12:31063000-31063800	Weak transcription	Fetal Brain Male	brain
19	chr12:31063000-31069800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr12:31063200-31063800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr12:31063200-31065800	Weak transcription	GM12878-XiMat	blood
22	chr12:31063200-31067600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr12:31063200-31067800	Weak transcription	Fetal Muscle Trunk	muscle
24	chr12:31063200-31069600	Weak transcription	H1 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links