Variant report

Variant	rs7303562
Chromosome Location	chr12:29380188-29380189
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10082744	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10734771	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10743650	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];0.89[MEX][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10771497	0.81[EUR][1000 genomes]
rs10771498	0.89[CEU][hapmap];0.95[JPT][hapmap];0.81[EUR][1000 genomes]
rs10771501	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10771502	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10843348	0.96[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10843361	0.82[GIH][hapmap]
rs12322549	0.96[CEU][hapmap];0.81[CHB][hapmap];0.93[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.88[TSI][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1862996	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];0.97[TSI][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2113534	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2194520	0.80[GIH][hapmap]
rs35549733	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7298376	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7300406	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[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:28 , 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	chr12:29374400-29380200	Weak transcription	Primary hematopoietic stem cells	blood
4	chr12:29374800-29382800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr12:29375200-29381000	Enhancers	Primary neutrophils fromperipheralblood	blood
6	chr12:29376800-29380200	Enhancers	Osteobl	bone
7	chr12:29377000-29381600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr12:29377000-29385200	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr12:29378200-29381400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr12:29378400-29381000	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr12:29378400-29381600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr12:29378400-29383200	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr12:29378400-29383200	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr12:29378400-29383400	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr12:29378600-29381600	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr12:29378800-29381400	Weak transcription	Placenta	Placenta
17	chr12:29378800-29383200	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr12:29379000-29380200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr12:29379000-29380200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr12:29379000-29382000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr12:29379000-29388000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr12:29379000-29393400	Weak transcription	Duodenum Mucosa	Duodenum
23	chr12:29379200-29380800	Enhancers	H1 Cell Line	embryonic stem cell
24	chr12:29379400-29380400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr12:29379400-29381400	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr12:29379600-29394600	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr12:29380000-29380200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr12:29380000-29381400	Weak transcription	Muscle Satellite Cultured Cells	--

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