Variant report

Variant	rs16952114
Chromosome Location	chr15:39764935-39764936
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	POLR2A	chr15:39764169-39766122	IMR90	lung:	n/a	n/a
2	CEBPB	chr15:39764897-39765546	IMR90	lung:	n/a	chr15:39765101-39765112 chr15:39765101-39765110 chr15:39765099-39765110 chr15:39765099-39765112
3	CEBPB	chr15:39764928-39765288	MCF-7	breast:	n/a	chr15:39765101-39765112 chr15:39765101-39765110 chr15:39765099-39765110 chr15:39765099-39765112
4	TCF12	chr15:39764771-39765429	SK-N-SH	brain:	n/a	n/a
5	RAD21	chr15:39764816-39765578	IMR90	lung:	n/a	n/a
6	EP300	chr15:39764911-39765220	SK-N-SH_RA	brain:	n/a	chr15:39765100-39765114
7	MAZ	chr15:39764342-39765872	IMR90	lung:	n/a	n/a

Variant related genes	Relation type
ENSG00000259269	TF binding region

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10520131	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11630143	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11630296	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11631131	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11631290	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11631466	0.90[EUR][1000 genomes]
rs11631836	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs11634087	0.90[EUR][1000 genomes]
rs11634167	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11634541	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11634743	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11635229	0.89[ASW][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11635586	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11636438	0.90[EUR][1000 genomes]
rs11637421	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16952143	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16952145	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16952153	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16969087	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs16969090	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16969092	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16969119	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17702778	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1973175	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3960597	0.84[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes]
rs3973348	0.83[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes]
rs3973349	1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[EUR][1000 genomes]
rs3973365	0.90[EUR][1000 genomes]
rs4603529	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4924364	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs55848083	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56313937	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56329829	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58157051	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58280064	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs60266259	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60313653	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs60420802	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60623717	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60664658	0.90[EUR][1000 genomes]
rs61545963	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7165434	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7166266	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7171447	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7171799	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7174276	1.00[CEU][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73393456	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73393472	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73399395	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs74010136	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8042191	0.83[EUR][1000 genomes];1.00[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:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:39753600-39765200	Weak transcription	Pancreas	Pancrea
2	chr15:39758200-39765200	Weak transcription	Right Atrium	heart
3	chr15:39758800-39765200	Weak transcription	HSMM	muscle
4	chr15:39759800-39765200	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr15:39759800-39766800	Weak transcription	Lung	lung
6	chr15:39759800-39770800	Weak transcription	Stomach Mucosa	stomach
7	chr15:39761000-39765200	Weak transcription	Fetal Muscle Trunk	muscle
8	chr15:39761200-39765000	Weak transcription	K562	blood
9	chr15:39761200-39765200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr15:39761400-39765200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr15:39761400-39766200	Weak transcription	HUVEC	blood vessel
12	chr15:39761800-39765400	Weak transcription	Primary hematopoietic stem cells	blood
13	chr15:39762600-39767200	Enhancers	Colon Smooth Muscle	Colon
14	chr15:39762800-39767200	Enhancers	Fetal Stomach	stomach
15	chr15:39763000-39767800	Enhancers	Fetal Lung	lung
16	chr15:39763200-39767800	Enhancers	Fetal Muscle Leg	muscle
17	chr15:39763400-39765000	Enhancers	Fetal Kidney	kidney
18	chr15:39763400-39765400	Enhancers	Stomach Smooth Muscle	stomach
19	chr15:39763400-39767000	Enhancers	Rectal Smooth Muscle	rectum
20	chr15:39763400-39767200	Enhancers	NHDF-Ad	bronchial
21	chr15:39763600-39765400	Active TSS	Fetal Brain Male	brain
22	chr15:39763800-39766600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr15:39764000-39765200	Enhancers	Monocytes-CD14+_RO01746	blood
24	chr15:39764000-39765800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr15:39764000-39767000	Enhancers	NHLF	lung
26	chr15:39764400-39767000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr15:39764600-39766000	Enhancers	Osteobl	bone
28	chr15:39764600-39767000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr15:39764600-39767000	Enhancers	Adipose Nuclei	Adipose
30	chr15:39764600-39767000	Enhancers	Skeletal Muscle Female	skeletal muscle
31	chr15:39764600-39767200	Enhancers	Primary monocytes fromperipheralblood	blood
32	chr15:39764800-39765200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr15:39764800-39765400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr15:39764800-39765600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr15:39764800-39766000	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr15:39764800-39767200	Enhancers	HSMMtube	muscle

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