Variant report

Variant	rs12328837
Chromosome Location	chr2:62896544-62896545
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFK	chr2:62896343-62896667	HepG2	liver:	n/a	chr2:62896501-62896516 chr2:62896505-62896516
2	MAFK	chr2:62896353-62896614	IMR90	lung:	n/a	chr2:62896501-62896516 chr2:62896505-62896516
3	MAFK	chr2:62896355-62896659	HepG2	liver:	n/a	chr2:62896501-62896516 chr2:62896505-62896516
4	MAFF	chr2:62896387-62896650	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
EHBP1	TF binding region

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10168771	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10177638	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1038572	1.00[CEU][hapmap];0.95[CHB][hapmap];0.87[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11125941	0.82[ASN][1000 genomes]
rs11682530	0.93[JPT][hapmap]
rs11688816	0.93[JPT][hapmap]
rs12989754	0.93[JPT][hapmap]
rs13013218	0.86[JPT][hapmap]
rs1386399	0.92[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap]
rs1386401	0.82[CEU][hapmap];0.82[CHB][hapmap];0.88[YRI][hapmap]
rs1487074	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1534418	0.92[CEU][hapmap];0.95[CHB][hapmap];0.93[JPT][hapmap];0.81[ASN][1000 genomes]
rs1534419	0.92[CEU][hapmap];0.81[ASN][1000 genomes]
rs1534420	0.92[CEU][hapmap];0.95[CHB][hapmap];0.93[JPT][hapmap];0.81[ASN][1000 genomes]
rs1553832	0.93[JPT][hapmap]
rs1872789	0.92[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.82[ASN][1000 genomes]
rs1872790	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs189671	0.93[JPT][hapmap]
rs2080227	0.81[YRI][hapmap]
rs2136737	0.93[JPT][hapmap]
rs2204655	0.92[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.81[ASN][1000 genomes]
rs2204656	0.88[CEU][hapmap];0.95[CHB][hapmap];0.93[JPT][hapmap];0.80[ASN][1000 genomes]
rs360799	0.93[JPT][hapmap];0.91[YRI][hapmap];0.80[ASN][1000 genomes]
rs360800	0.93[JPT][hapmap];0.80[ASN][1000 genomes]
rs360801	0.93[JPT][hapmap];0.80[ASN][1000 genomes]
rs360804	0.93[JPT][hapmap];0.80[ASN][1000 genomes]
rs360807	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs4461246	0.93[JPT][hapmap]
rs4671050	0.93[JPT][hapmap]
rs6545968	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs6545969	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6545971	0.93[JPT][hapmap]
rs6705835	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs6727888	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6757128	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7421841	0.82[ASN][1000 genomes]
rs7573756	0.93[JPT][hapmap]
rs974344	0.82[ASN][1000 genomes]
rs974345	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv535766	chr2:62177655-62929746	Bivalent/Poised TSS Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv916190	chr2:62233785-63006200	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv932487	chr2:62258290-63006200	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
4	nsv535767	chr2:62461582-63413596	Bivalent Enhancer Strong transcription Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
5	nsv874232	chr2:62758044-62906084	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv834237	chr2:62762743-62926036	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:62887400-62899000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:62890000-62899000	Weak transcription	Fetal Muscle Trunk	muscle
3	chr2:62890000-62899800	Weak transcription	Right Atrium	heart
4	chr2:62890400-62899000	Weak transcription	Ovary	ovary
5	chr2:62891800-62898000	Weak transcription	Fetal Heart	heart
6	chr2:62892200-62898400	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr2:62892200-62899400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr2:62892200-62899600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr2:62892400-62898800	Weak transcription	Placenta	Placenta
10	chr2:62893000-62899000	Weak transcription	NHLF	lung
11	chr2:62893200-62898600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr2:62893200-62899800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr2:62893400-62899000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr2:62893600-62897200	Weak transcription	Stomach Smooth Muscle	stomach
15	chr2:62893600-62897800	Weak transcription	Rectal Smooth Muscle	rectum
16	chr2:62893600-62898800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr2:62893800-62898800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr2:62893800-62898800	Weak transcription	Fetal Lung	lung
19	chr2:62894000-62898400	Weak transcription	Fetal Stomach	stomach
20	chr2:62894000-62898800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr2:62894000-62899000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr2:62894000-62899400	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr2:62894800-62899000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr2:62895200-62896600	Enhancers	Adipose Nuclei	Adipose
25	chr2:62895400-62898200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr2:62895600-62898000	Weak transcription	HepG2	liver
27	chr2:62895800-62897600	Weak transcription	Colon Smooth Muscle	Colon
28	chr2:62895800-62898800	Weak transcription	NHDF-Ad	bronchial
29	chr2:62895800-62899000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr2:62896400-62896600	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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