Variant report

Variant	rs8192367
Chromosome Location	chr15:72519636-72519637
allele	A/C
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	FOSL2	chr15:72518744-72520034	SK-N-SH	brain:	n/a	chr15:72519719-72519726 chr15:72519718-72519726 chr15:72519717-72519727 chr15:72519718-72519727
2	EP300	chr15:72519047-72519705	GM12878	blood:	n/a	n/a
3	NFIC	chr15:72518931-72519865	GM12878	blood:	n/a	chr15:72519750-72519766 chr15:72519056-72519072 chr15:72519749-72519766
4	POLR2A	chr15:72518830-72519966	HCT-116	colon:	n/a	n/a
5	POLR2A	chr15:72519172-72519847	MCF10A-Er-Src	breast:	n/a	n/a
6	POLR2A	chr15:72518413-72522208	HepG2	liver:	n/a	n/a
7	POLR2A	chr15:72517579-72524300	GM12892	blood:	n/a	n/a
8	NFATC1	chr15:72518907-72519957	GM12878	blood:	n/a	n/a
9	REST	chr15:72518828-72519773	A549	lung:	n/a	n/a
10	NFIC	chr15:72518814-72520012	GM12878	blood:	n/a	chr15:72519750-72519766 chr15:72519056-72519072 chr15:72519749-72519766
11	TAF1	chr15:72519629-72519897	GM12891	blood:	n/a	n/a
12	ARID3A	chr15:72519415-72519807	K562	blood:	n/a	n/a
13	CTCF	chr15:72518870-72519966	SK-N-SH	brain:	n/a	n/a
14	POLR2A	chr15:72519554-72519837	K562	blood:	n/a	n/a
15	EP300	chr15:72518713-72519975	A549	lung:	n/a	chr15:72519718-72519727 chr15:72519717-72519726
16	POLR2A	chr15:72518944-72519812	K562	blood:	n/a	n/a
17	POLR2A	chr15:72517595-72520058	Hela-S3	cervix:	n/a	n/a
18	POLR2A	chr15:72518907-72519888	Hela-S3	cervix:	n/a	n/a
19	MAZ	chr15:72519030-72519757	GM12878	blood:	n/a	chr15:72519717-72519726 chr15:72519718-72519727
20	POLR2A	chr15:72518885-72519950	HCT-116	colon:	n/a	n/a
21	SIN3A	chr15:72519016-72519644	GM12878	blood:	n/a	n/a
22	MAFK	chr15:72519073-72519756	K562	blood:	n/a	n/a
23	EP300	chr15:72518984-72519817	GM12878	blood:	n/a	chr15:72519718-72519727 chr15:72519717-72519726
24	ZNF384	chr15:72518999-72519808	K562	blood:	n/a	n/a
25	POLR2A	chr15:72517612-72524924	GM12892	blood:	n/a	n/a
26	STAT3	chr15:72519508-72519911	MCF10A-Er-Src	breast:	n/a	chr15:72519717-72519726 chr15:72519718-72519727
27	POLR2A	chr15:72518976-72519950	GM12892	blood:	n/a	n/a
28	POLR2A	chr15:72518950-72519969	GM19099	blood:	n/a	n/a
29	POLR2A	chr15:72518905-72519945	SK-N-MC	brain:	n/a	n/a
30	CEBPB	chr15:72518969-72519903	GM12878	blood:	n/a	n/a
31	JUND	chr15:72518870-72519916	A549	lung:	n/a	chr15:72519719-72519726 chr15:72519718-72519726 chr15:72519717-72519727 chr15:72519716-72519727 chr15:72519718-72519727
32	STAT3	chr15:72519627-72519804	MCF10A-Er-Src	breast:	n/a	chr15:72519717-72519726 chr15:72519718-72519727
33	JUND	chr15:72519563-72519829	HepG2	liver:	n/a	chr15:72519719-72519726 chr15:72519718-72519726 chr15:72519717-72519727 chr15:72519716-72519727 chr15:72519718-72519727
34	MXI1	chr15:72519031-72519872	Hela-S3	cervix:	n/a	n/a
35	SIN3AK20	chr15:72518898-72519877	A549	lung:	n/a	n/a
36	POLR2A	chr15:72517567-72525077	U87	brain:	n/a	n/a
37	FOS	chr15:72518672-72519966	MCF10A-Er-Src	breast:	n/a	chr15:72519719-72519726 chr15:72519718-72519726 chr15:72519717-72519727 chr15:72519716-72519727 chr15:72519718-72519727
38	POLR2A	chr15:72518858-72520051	Hela-S3	cervix:	n/a	n/a
39	TCF12	chr15:72518844-72519984	ECC-1	luminal epithelium:	n/a	n/a
40	POLR2A	chr15:72518930-72519991	GM19193	blood:	n/a	n/a
41	BCLAF1	chr15:72518900-72519885	GM12878	blood:	n/a	chr15:72519718-72519727 chr15:72519073-72519086 chr15:72519717-72519726
42	POLR2A	chr15:72518895-72520057	GM12892	blood:	n/a	n/a
43	TBP	chr15:72519039-72519866	GM12878	blood:	n/a	n/a
44	KAP1	chr15:72519049-72519877	U2OS	brain:	n/a	chr15:72519719-72519728
45	POLR2A	chr15:72519047-72519908	GM15510	blood:	n/a	n/a
46	ATF2	chr15:72518910-72519932	GM12878	blood:	n/a	n/a
47	MTA3	chr15:72518920-72519879	GM12878	blood:	n/a	n/a
48	MAX	chr15:72518878-72519970	A549	lung:	n/a	chr15:72519717-72519726 chr15:72519718-72519727
49	CTCF	chr15:72518894-72519915	A549	lung:	n/a	n/a
50	POLR2A	chr15:72518869-72520047	GM12891	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:72518397..72520643-chr15:72555836..72558368,2	K562	blood:
2	chr15:72409625..72411643-chr15:72517695..72521104,3	MCF-7	breast:
3	chr15:72518920..72521207-chr15:72667359..72669171,2	MCF-7	breast:
4	chr15:72519181..72521639-chr15:72766210..72768068,3	MCF-7	breast:
5	chr15:72519150..72522130-chr17:57913936..57915529,2	MCF-7	breast:
6	chr15:72519310..72525410-chr15:72562881..72568730,22	MCF-7	breast:
7	chr15:72518424..72531344-chr15:72562525..72571046,23	K562	blood:
8	chr15:72519248..72520809-chr5:61697872..61699713,2	MCF-7	breast:
9	chr15:72518953..72519823-chr15:93347296..93347802,2	Hela-S3	cervix:
10	chr15:72514333..72526693-chr15:72558323..72568559,52	MCF-7	breast:
11	chr15:72519045..72520714-chr15:72603580..72606385,2	K562	blood:
12	chr15:72509056..72514932-chr15:72519551..72525663,8	K562	blood:

Variant related genes	Relation type
PKM	TF binding region
ENSG00000213614	Chromatin interaction
ENSG00000166233	Chromatin interaction
ENSG00000260729	Chromatin interaction
ENSG00000062716	Chromatin interaction
ENSG00000261423	Chromatin interaction
ENSG00000066933	Chromatin interaction
ENSG00000067225	Chromatin interaction
ENSG00000137817	Chromatin interaction
ENSG00000166192	Chromatin interaction
ENSG00000260339	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs12324744	0.92[AFR][1000 genomes]
rs12907087	0.88[AFR][1000 genomes]
rs12907377	0.88[AFR][1000 genomes]
rs12911285	0.88[AFR][1000 genomes]
rs12914269	0.88[AFR][1000 genomes]
rs1426169	0.88[AFR][1000 genomes]
rs2415133	0.81[AFR][1000 genomes]
rs28414926	0.83[AFR][1000 genomes]
rs34346715	0.88[AFR][1000 genomes]
rs34382909	0.92[AFR][1000 genomes]
rs35104697	0.88[AFR][1000 genomes]
rs35694406	0.86[AFR][1000 genomes]
rs36110969	0.88[AFR][1000 genomes]
rs3743227	0.92[AFR][1000 genomes]
rs3743228	0.92[AFR][1000 genomes]
rs3743229	0.92[AFR][1000 genomes]
rs57420281	0.92[AFR][1000 genomes]
rs57595193	0.85[AFR][1000 genomes]
rs57692836	0.92[AFR][1000 genomes]
rs58352854	0.92[AFR][1000 genomes]
rs60350471	0.96[AFR][1000 genomes]
rs60600349	0.94[AFR][1000 genomes]
rs61109283	0.81[AFR][1000 genomes]
rs6494994	0.96[AFR][1000 genomes]
rs67195650	0.92[AFR][1000 genomes]
rs7174264	0.92[AFR][1000 genomes]
rs73436365	0.85[AFR][1000 genomes]
rs73436366	0.85[AFR][1000 genomes]
rs73436377	0.85[AFR][1000 genomes]
rs73436397	0.96[AFR][1000 genomes]
rs73436400	0.96[AFR][1000 genomes]
rs73438403	0.94[AFR][1000 genomes]
rs73438405	0.96[AFR][1000 genomes]
rs73438414	0.96[AFR][1000 genomes]
rs73438446	0.86[AFR][1000 genomes]
rs73438458	0.88[AFR][1000 genomes]
rs8028169	0.96[AFR][1000 genomes]
rs8033167	0.96[AFR][1000 genomes]
rs8192354	0.96[AFR][1000 genomes]
rs8192360	0.96[AFR][1000 genomes]
rs8192365	0.96[AFR][1000 genomes]
rs8192379	0.96[AFR][1000 genomes]
rs8192393	0.96[AFR][1000 genomes]
rs8192408	0.94[AFR][1000 genomes]
rs8192412	0.96[AFR][1000 genomes]
rs8192413	0.96[AFR][1000 genomes]
rs8192418	0.90[AFR][1000 genomes]
rs890312	0.88[AFR][1000 genomes]
rs9806184	0.92[AFR][1000 genomes]
rs9806204	0.92[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv431395	chr15:72266174-72701777	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
2	nsv530817	chr15:72350885-72773374	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
3	esv3430860	chr15:72373723-72849907	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	172 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:72511400-72521800	Weak transcription	Liver	Liver
2	chr15:72516600-72520000	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr15:72517800-72520200	Enhancers	Primary T killer memory cells from peripheral blood	blood
4	chr15:72517800-72520200	Enhancers	Brain Cingulate Gyrus	brain
5	chr15:72517800-72520200	Enhancers	Pancreatic Islets	Pancreatic Islet
6	chr15:72517800-72521000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr15:72517800-72521000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
8	chr15:72517800-72522600	Transcr. at gene 5' and 3'	A549	lung
9	chr15:72518000-72520200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr15:72518000-72520400	Enhancers	Fetal Muscle Leg	muscle
11	chr15:72518200-72520400	Enhancers	Primary B cells from peripheral blood	blood
12	chr15:72518400-72519800	Flanking Active TSS	NH-A	brain
13	chr15:72518400-72520200	Enhancers	Right Ventricle	heart
14	chr15:72518400-72520400	Enhancers	Fetal Brain Female	brain
15	chr15:72518400-72521000	Enhancers	Colonic Mucosa	Colon
16	chr15:72518400-72521600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
17	chr15:72518400-72521600	Enhancers	Fetal Intestine Large	intestine
18	chr15:72518400-72521800	Enhancers	Spleen	Spleen
19	chr15:72518600-72519800	Flanking Active TSS	NHEK	skin
20	chr15:72518600-72520200	Enhancers	Fetal Muscle Trunk	muscle
21	chr15:72518600-72520800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr15:72518600-72522200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
23	chr15:72518800-72519800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
24	chr15:72518800-72519800	Flanking Active TSS	Primary B cells from cord blood	blood
25	chr15:72518800-72519800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
26	chr15:72518800-72520200	Genic enhancers	Fetal Stomach	stomach
27	chr15:72518800-72520400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
28	chr15:72518800-72520800	Flanking Active TSS	Osteobl	bone
29	chr15:72518800-72522600	Transcr. at gene 5' and 3'	Dnd41	blood
30	chr15:72519000-72519800	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
31	chr15:72519000-72519800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
32	chr15:72519000-72519800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
33	chr15:72519000-72519800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
34	chr15:72519000-72519800	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
35	chr15:72519000-72519800	Flanking Active TSS	Duodenum Mucosa	Duodenum
36	chr15:72519000-72519800	Flanking Active TSS	Rectal Smooth Muscle	rectum
37	chr15:72519000-72519800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
38	chr15:72519000-72519800	Flanking Active TSS	Stomach Smooth Muscle	stomach
39	chr15:72519000-72519800	Transcr. at gene 5' and 3'	Hela-S3	cervix
40	chr15:72519000-72519800	Flanking Active TSS	HMEC	breast
41	chr15:72519000-72519800	Transcr. at gene 5' and 3'	HSMM	muscle
42	chr15:72519000-72519800	Flanking Active TSS	NHDF-Ad	bronchial
43	chr15:72519000-72520000	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr15:72519000-72520000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr15:72519000-72520000	Flanking Active TSS	HepG2	liver
46	chr15:72519000-72520200	Enhancers	Fetal Brain Male	brain
47	chr15:72519000-72520600	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr15:72519000-72520800	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr15:72519000-72520800	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr15:72519000-72520800	Enhancers	Placenta Amnion	Placenta Amnion

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