Variant report

Variant	rs12432127
Chromosome Location	chr14:78106308-78106309
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10132804	0.80[ASN][1000 genomes]
rs10139421	0.80[ASN][1000 genomes]
rs10873310	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11159282	0.85[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs11159285	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12050437	0.99[ASN][1000 genomes]
rs12050439	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12435993	0.80[ASN][1000 genomes]
rs12586560	0.97[ASN][1000 genomes]
rs12590445	0.92[ASN][1000 genomes]
rs12590759	0.99[ASN][1000 genomes]
rs12590776	0.99[ASN][1000 genomes]
rs12878099	0.80[ASN][1000 genomes]
rs12879146	0.97[ASN][1000 genomes]
rs12880698	0.87[ASN][1000 genomes]
rs12881338	0.97[ASN][1000 genomes]
rs12881530	0.95[ASN][1000 genomes]
rs12886970	0.95[ASN][1000 genomes]
rs12889224	0.97[ASN][1000 genomes]
rs12898009	0.97[ASN][1000 genomes]
rs34140630	0.97[ASN][1000 genomes]
rs34567686	0.97[ASN][1000 genomes]
rs35636868	0.97[ASN][1000 genomes]
rs4899664	0.97[ASN][1000 genomes]
rs4903619	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4903620	0.99[ASN][1000 genomes]
rs56812919	0.83[ASN][1000 genomes]
rs67838524	0.97[ASN][1000 genomes]
rs71428789	0.97[ASN][1000 genomes]
rs7149026	0.80[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7153483	0.83[ASN][1000 genomes]
rs7155602	0.82[ASN][1000 genomes]
rs8004037	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[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	nsv1053810	chr14:77987871-78148320	Genic enhancers Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv1051554	chr14:78004196-78122980	Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	esv2758362	chr14:78074180-78262572	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	esv2759998	chr14:78074180-78262572	Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
5	esv2757575	chr14:78104897-78212462	Strong transcription Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
6	esv34940	chr14:78104897-78222798	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:78102600-78107600	Weak transcription	Lung	lung
2	chr14:78103000-78107800	Weak transcription	HepG2	liver
3	chr14:78104000-78106800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr14:78104200-78107600	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr14:78104400-78106400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr14:78105000-78107200	Enhancers	Monocytes-CD14+_RO01746	blood
7	chr14:78105200-78107000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr14:78105200-78107600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr14:78105200-78107600	Weak transcription	NHLF	lung
10	chr14:78105200-78107800	Weak transcription	Placenta	Placenta
11	chr14:78105200-78108000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr14:78105200-78108000	Weak transcription	HSMMtube	muscle
13	chr14:78105400-78107400	Weak transcription	Adipose Nuclei	Adipose
14	chr14:78105400-78107400	Weak transcription	HUVEC	blood vessel
15	chr14:78105400-78107600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr14:78105400-78107600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr14:78105400-78107600	Weak transcription	Duodenum Mucosa	Duodenum
18	chr14:78105400-78107600	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr14:78105400-78107600	Weak transcription	NHEK	skin
20	chr14:78105600-78107000	Weak transcription	K562	blood
21	chr14:78105600-78107600	Weak transcription	Fetal Intestine Large	intestine
22	chr14:78105600-78107600	Weak transcription	NHDF-Ad	bronchial
23	chr14:78105600-78108000	Weak transcription	HMEC	breast
24	chr14:78105800-78107600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr14:78105800-78107600	Weak transcription	Stomach Mucosa	stomach
26	chr14:78105800-78107600	Weak transcription	HSMM	muscle
27	chr14:78106000-78107400	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr14:78106000-78107400	Weak transcription	Osteobl	bone
29	chr14:78106000-78107600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr14:78106000-78107600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr14:78106000-78107600	Weak transcription	NH-A	brain
32	chr14:78106200-78106400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell

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