Variant report

Variant	rs8017748
Chromosome Location	chr14:78104897-78104898
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:78100950..78102478-chr14:78102810..78104938,2	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11620917	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs11621029	0.99[ASN][1000 genomes]
rs11625133	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs11625369	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12586560	0.85[CHD][hapmap]
rs12589812	0.94[ASN][1000 genomes]
rs12881338	0.86[CHD][hapmap]
rs12881530	0.89[CHD][hapmap]
rs17825181	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2886123	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs34856099	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4243658	0.96[CEU][hapmap];0.89[CHB][hapmap];0.97[CHD][hapmap];0.93[GIH][hapmap];0.87[JPT][hapmap];0.83[MEX][hapmap];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8003416	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8021379	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.93[TSI][hapmap];0.89[AMR][1000 genomes];0.87[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:26 , 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	chr14:78103600-78105000	Weak transcription	K562	blood
4	chr14:78103600-78105400	Enhancers	NHEK	skin
5	chr14:78104000-78105800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr14:78104000-78105800	Enhancers	Stomach Mucosa	stomach
7	chr14:78104000-78106000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr14:78104000-78106000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr14:78104000-78106000	Enhancers	NH-A	brain
10	chr14:78104000-78106800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr14:78104200-78105600	Enhancers	NHDF-Ad	bronchial
12	chr14:78104200-78106000	Enhancers	Osteobl	bone
13	chr14:78104200-78107600	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr14:78104400-78105200	Enhancers	HSMM	muscle
15	chr14:78104400-78105800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr14:78104400-78106400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr14:78104600-78105600	Enhancers	HMEC	breast
18	chr14:78104800-78105200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr14:78104800-78105200	Enhancers	HSMMtube	muscle
20	chr14:78104800-78105200	Enhancers	NHLF	lung
21	chr14:78104800-78105400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr14:78104800-78105400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr14:78104800-78105400	Enhancers	Duodenum Mucosa	Duodenum
24	chr14:78104800-78105400	Enhancers	HUVEC	blood vessel
25	chr14:78104800-78105600	Enhancers	Fetal Intestine Large	intestine
26	chr14:78104800-78106000	Enhancers	Muscle Satellite Cultured Cells	--

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