Variant report

Variant	rs74010136
Chromosome Location	chr15:39767062-39767063
allele	C/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	chr15:39766940-39767090	HVMF	connective:	n/a	n/a
2	CTCF	chr15:39766940-39767090	BJ	skin:	n/a	n/a
3	GATA2	chr15:39766916-39767321	HUVEC	blood vessel:	n/a	n/a
4	CTCF	chr15:39766940-39767090	HCM	heart:	n/a	n/a
5	POLR2A	chr15:39766851-39767211	HUVEC	blood vessel:	n/a	n/a
6	CTCF	chr15:39766960-39767110	HFF-Myc	foreskin:	n/a	n/a
7	CTCF	chr15:39766980-39767130	HFF	foreskin:	n/a	n/a
8	POLR2A	chr15:39766943-39767249	HUVEC	blood vessel:	n/a	n/a
9	POLR2A	chr15:39766178-39767425	HUVEC	blood vessel:	n/a	n/a
10	FOS	chr15:39766927-39767246	HUVEC	blood vessel:	n/a	n/a

Variant related genes	Relation type
ENSG00000259269	TF binding region

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

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10520131	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11630143	0.86[ASN][1000 genomes]
rs11630296	0.86[ASN][1000 genomes]
rs11631131	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11631290	0.86[ASN][1000 genomes]
rs11634541	0.86[ASN][1000 genomes]
rs11634743	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11635229	0.81[ASN][1000 genomes]
rs11635586	0.86[ASN][1000 genomes]
rs11637421	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16952114	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16952143	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16952145	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16952153	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16969087	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs16969090	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16969092	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16969119	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17702778	0.91[ASN][1000 genomes]
rs1973175	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4603529	1.00[ASN][1000 genomes]
rs4924364	0.88[ASN][1000 genomes]
rs55848083	0.86[ASN][1000 genomes]
rs56313937	0.86[ASN][1000 genomes]
rs56329829	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58157051	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58280064	0.86[ASN][1000 genomes]
rs60266259	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60313653	0.86[ASN][1000 genomes]
rs60420802	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60623717	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61545963	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7165434	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7166266	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7171447	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7171799	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7174276	0.86[ASN][1000 genomes]
rs73393456	0.86[ASN][1000 genomes]
rs73393472	0.86[ASN][1000 genomes]
rs73399395	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8042191	0.85[AMR][1000 genomes];1.00[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:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:39759800-39770800	Weak transcription	Stomach Mucosa	stomach
2	chr15:39762600-39767200	Enhancers	Colon Smooth Muscle	Colon
3	chr15:39762800-39767200	Enhancers	Fetal Stomach	stomach
4	chr15:39763000-39767800	Enhancers	Fetal Lung	lung
5	chr15:39763200-39767800	Enhancers	Fetal Muscle Leg	muscle
6	chr15:39763400-39767200	Enhancers	NHDF-Ad	bronchial
7	chr15:39764600-39767200	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr15:39764800-39767200	Enhancers	HSMMtube	muscle
9	chr15:39765200-39767200	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr15:39765200-39767200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr15:39765200-39767800	Enhancers	Pancreas	Pancrea
12	chr15:39765200-39767800	Enhancers	HSMM	muscle
13	chr15:39765600-39767800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr15:39765600-39767800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr15:39766000-39768000	Enhancers	Fetal Kidney	kidney
16	chr15:39766200-39767200	Weak transcription	Fetal Intestine Large	intestine
17	chr15:39766200-39767800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr15:39766200-39767800	Enhancers	HUVEC	blood vessel
19	chr15:39766400-39767200	Enhancers	Muscle Satellite Cultured Cells	--
20	chr15:39766400-39767200	Enhancers	Osteobl	bone
21	chr15:39766800-39767200	Enhancers	Fetal Muscle Trunk	muscle
22	chr15:39766800-39767200	Enhancers	Lung	lung
23	chr15:39766800-39769200	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr15:39767000-39767200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr15:39767000-39772200	Weak transcription	Spleen	Spleen

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