Variant report

Variant	rs12309283
Chromosome Location	chr12:29380421-29380422
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11050133	0.89[EUR][1000 genomes]
rs11050134	1.00[EUR][1000 genomes]
rs11050137	0.89[EUR][1000 genomes]
rs11050138	1.00[CHB][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12299091	1.00[CHB][hapmap];0.83[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12299148	1.00[CHB][hapmap];0.83[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12299228	0.88[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12307346	0.89[EUR][1000 genomes]
rs12309340	1.00[CHB][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]
rs12319661	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12320498	1.00[CHB][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16934037	1.00[CHB][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]
rs766764	1.00[EUR][1000 genomes]
rs7960832	0.90[EUR][1000 genomes]
rs7960834	0.89[EUR][1000 genomes]
rs9804966	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9804995	1.00[CHB][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9804996	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv532233	chr12:29009388-29496179	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer 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	nsv995123	chr12:29095272-29571558	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv1053641	chr12:29268813-29854413	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers 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	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:29360400-29381000	Weak transcription	HUVEC	blood vessel
2	chr12:29366200-29393200	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr12:29374800-29382800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr12:29375200-29381000	Enhancers	Primary neutrophils fromperipheralblood	blood
5	chr12:29377000-29381600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr12:29377000-29385200	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr12:29378200-29381400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr12:29378400-29381000	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr12:29378400-29381600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr12:29378400-29383200	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr12:29378400-29383200	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr12:29378400-29383400	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr12:29378600-29381600	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr12:29378800-29381400	Weak transcription	Placenta	Placenta
15	chr12:29378800-29383200	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr12:29379000-29382000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr12:29379000-29388000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr12:29379000-29393400	Weak transcription	Duodenum Mucosa	Duodenum
19	chr12:29379200-29380800	Enhancers	H1 Cell Line	embryonic stem cell
20	chr12:29379400-29381400	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr12:29379600-29394600	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr12:29380000-29381400	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr12:29380200-29380600	Enhancers	Primary hematopoietic stem cells	blood
24	chr12:29380200-29380800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr12:29380200-29381600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr12:29380200-29381600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr12:29380200-29381600	Weak transcription	Osteobl	bone
28	chr12:29380400-29382400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr12:29380400-29392000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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