Variant report

Variant	rs2302464
Chromosome Location	chr4:15709252-15709253
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	FOXP2	chr4:15708971-15709330	SK-N-MC	brain:	n/a	n/a
2	CEBPB	chr4:15708746-15709372	Hela-S3	cervix:	n/a	chr4:15709046-15709057 chr4:15709046-15709057 chr4:15709044-15709055
3	TCF7L2	chr4:15708914-15709300	PANC-1	pancreas:	n/a	n/a
4	USF2	chr4:15709066-15709312	Hela-S3	cervix:	n/a	n/a
5	MAX	chr4:15709002-15709355	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr4:15709066-15709393	SK-N-MC	brain:	n/a	n/a
7	STAT3	chr4:15708990-15709252	MCF10A-Er-Src	breast:	n/a	n/a
8	STAT3	chr4:15708896-15709294	Hela-S3	cervix:	n/a	n/a
9	RFX5	chr4:15709090-15709299	Hela-S3	cervix:	n/a	n/a
10	STAT3	chr4:15709016-15709270	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:15694450..15696335-chr4:15709178..15711089,2	K562	blood:

Variant related genes	Relation type
BST1	TF binding region

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10011868	1.00[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes]
rs10516290	1.00[CEU][hapmap]
rs10516291	1.00[CEU][hapmap]
rs1058212	1.00[CEU][hapmap]
rs10939630	1.00[CEU][hapmap];0.88[CHB][hapmap];0.83[CHD][hapmap];0.82[GIH][hapmap];0.87[JPT][hapmap];0.87[EUR][1000 genomes]
rs10939631	0.87[EUR][1000 genomes]
rs11931532	1.00[CEU][hapmap]
rs11934401	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11944132	1.00[CEU][hapmap]
rs12645693	1.00[CEU][hapmap]
rs12646331	1.00[CEU][hapmap]
rs16892141	1.00[CEU][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes]
rs16892263	1.00[ASW][hapmap];1.00[CEU][hapmap];0.82[CHB][hapmap];0.93[CHD][hapmap];0.96[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs16892271	1.00[CEU][hapmap]
rs16892272	1.00[CEU][hapmap]
rs16892276	1.00[CEU][hapmap]
rs16892283	1.00[CEU][hapmap]
rs16892287	1.00[CEU][hapmap]
rs16892289	1.00[CEU][hapmap]
rs16898413	1.00[CEU][hapmap]
rs2302463	1.00[CEU][hapmap];0.82[CHB][hapmap];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs28392966	0.87[EUR][1000 genomes]
rs28396343	0.91[AMR][1000 genomes]
rs4267735	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs4321629	1.00[CEU][hapmap]
rs4395498	1.00[CEU][hapmap];0.82[GIH][hapmap];1.00[YRI][hapmap]
rs4435745	1.00[CEU][hapmap]
rs4498133	1.00[CEU][hapmap]
rs4502676	1.00[CEU][hapmap];0.83[GIH][hapmap];1.00[YRI][hapmap]
rs6811179	1.00[CEU][hapmap];0.81[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6828144	1.00[CEU][hapmap];0.83[GIH][hapmap]
rs6835705	1.00[CEU][hapmap]
rs6844968	1.00[CEU][hapmap]
rs73121382	0.81[EUR][1000 genomes]
rs7657257	0.87[EUR][1000 genomes]
rs7672395	1.00[CEU][hapmap];0.83[GIH][hapmap]
rs7688526	1.00[CEU][hapmap];0.88[GIH][hapmap]
rs955410	1.00[CEU][hapmap]
rs9790670	1.00[CEU][hapmap]
rs9942211	1.00[CEU][hapmap]
rs9942247	1.00[CEU][hapmap]
rs9942275	1.00[CEU][hapmap];0.96[GIH][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3448986	chr4:14928802-15805558	Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	esv2757923	chr4:15444617-15749520	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	esv2759227	chr4:15444617-15749520	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv428439	chr4:15556961-15749520	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv1012988	chr4:15597510-16091527	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:15697600-15723600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr4:15705000-15735200	Weak transcription	Lung	lung
3	chr4:15705200-15716200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr4:15705200-15716200	Weak transcription	Brain Anterior Caudate	brain
5	chr4:15705200-15720400	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr4:15705200-15720600	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr4:15705200-15731000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr4:15705400-15709600	Weak transcription	Fetal Intestine Small	intestine
9	chr4:15705400-15713800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr4:15705400-15715800	Weak transcription	Fetal Lung	lung
11	chr4:15705400-15715800	Weak transcription	Fetal Stomach	stomach
12	chr4:15705400-15715800	Weak transcription	NH-A	brain
13	chr4:15705400-15716200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr4:15705400-15716200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr4:15705400-15716200	Weak transcription	A549	lung
16	chr4:15705400-15718800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr4:15705400-15727400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr4:15705600-15714000	Weak transcription	Duodenum Mucosa	Duodenum
19	chr4:15705800-15715600	Weak transcription	Osteobl	bone
20	chr4:15705800-15716200	Weak transcription	Fetal Intestine Large	intestine
21	chr4:15705800-15719400	Weak transcription	Spleen	Spleen
22	chr4:15706000-15727800	Weak transcription	Primary hematopoietic stem cells	blood
23	chr4:15706800-15709400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr4:15706800-15710000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr4:15707400-15709800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr4:15707400-15711000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr4:15707400-15711800	Genic enhancers	Primary neutrophils fromperipheralblood	blood
28	chr4:15707400-15742800	Weak transcription	Primary B cells from cord blood	blood
29	chr4:15707600-15709400	Enhancers	Adipose Nuclei	Adipose
30	chr4:15708000-15716200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr4:15708200-15709400	Enhancers	NHDF-Ad	bronchial
32	chr4:15708200-15710000	Enhancers	Hela-S3	cervix
33	chr4:15708400-15709400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr4:15708400-15709400	Enhancers	Brain Hippocampus Middle	brain
35	chr4:15708800-15709400	Enhancers	Brain Angular Gyrus	brain
36	chr4:15708800-15709400	Enhancers	Brain Substantia Nigra	brain
37	chr4:15708800-15720200	Strong transcription	Monocytes-CD14+_RO01746	blood
38	chr4:15708800-15739400	Weak transcription	Ovary	ovary
39	chr4:15709000-15710800	Weak transcription	HepG2	liver
40	chr4:15709000-15713200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr4:15709000-15716000	Weak transcription	Fetal Brain Female	brain
42	chr4:15709200-15709600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr4:15709200-15710600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr4:15709200-15719600	Strong transcription	Primary monocytes fromperipheralblood	blood

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