Variant report

Variant	rs12148631
Chromosome Location	chr15:39759999-39760000
allele	C/G/T
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	CTCF	chr15:39759984-39760050	Lung_OC	lung:	n/a	n/a

Variant related genes	Relation type
ENSG00000259269	TF binding region

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

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10459586	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10520130	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11070198	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11070206	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11070207	0.94[ASN][1000 genomes]
rs1158915	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1158916	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1158917	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11854059	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11854786	0.82[EUR][1000 genomes]
rs11855535	0.82[EUR][1000 genomes]
rs11855543	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11855977	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11855990	0.94[ASN][1000 genomes]
rs11857970	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1551945	1.00[CEU][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16952151	1.00[CEU][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16969038	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16969104	0.91[ASN][1000 genomes]
rs3889532	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4286083	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4923830	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4924362	0.91[ASN][1000 genomes]
rs5028679	1.00[CEU][hapmap];0.82[JPT][hapmap];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56839831	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs56869025	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs57248361	0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs58417285	0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs61648928	0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7171584	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73393497	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs74008128	0.81[AMR][1000 genomes]
rs8025111	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8032303	1.00[CEU][hapmap];0.82[JPT][hapmap];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8034569	1.00[CEU][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049682	chr15:39657279-40027403	Enhancers Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv542361	chr15:39657279-40027403	Weak transcription Strong transcription Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	esv3373125	chr15:39691567-40061262	Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	nsv904094	chr15:39738006-39976057	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 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	chr15:39753600-39765200	Weak transcription	Pancreas	Pancrea
2	chr15:39754600-39764600	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr15:39754800-39763400	Weak transcription	Rectal Smooth Muscle	rectum
4	chr15:39756000-39760200	Weak transcription	HUVEC	blood vessel
5	chr15:39757400-39760000	Enhancers	NHDF-Ad	bronchial
6	chr15:39757400-39761200	Enhancers	Fetal Stomach	stomach
7	chr15:39757600-39760200	Enhancers	Monocytes-CD14+_RO01746	blood
8	chr15:39757600-39761200	Enhancers	Fetal Muscle Leg	muscle
9	chr15:39758000-39760000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr15:39758000-39760000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr15:39758000-39760000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr15:39758000-39762200	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr15:39758200-39765200	Weak transcription	Right Atrium	heart
14	chr15:39758600-39760800	Weak transcription	Osteobl	bone
15	chr15:39758800-39764000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr15:39758800-39765200	Weak transcription	HSMM	muscle
17	chr15:39759400-39760000	Enhancers	Colon Smooth Muscle	Colon
18	chr15:39759400-39760400	Weak transcription	K562	blood
19	chr15:39759400-39761800	Enhancers	Primary neutrophils fromperipheralblood	blood
20	chr15:39759600-39760800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr15:39759600-39763800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr15:39759800-39760000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr15:39759800-39760600	Weak transcription	Adipose Nuclei	Adipose
24	chr15:39759800-39760800	Weak transcription	Fetal Muscle Trunk	muscle
25	chr15:39759800-39761800	Enhancers	Primary hematopoietic stem cells	blood
26	chr15:39759800-39761800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr15:39759800-39763000	Weak transcription	Fetal Lung	lung
28	chr15:39759800-39763400	Weak transcription	Stomach Smooth Muscle	stomach
29	chr15:39759800-39764000	Weak transcription	NHLF	lung
30	chr15:39759800-39765200	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr15:39759800-39766800	Weak transcription	Lung	lung
32	chr15:39759800-39770800	Weak transcription	Stomach Mucosa	stomach

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