Variant report

Variant	rs8192372
Chromosome Location	chr15:72519066-72519067
allele	A/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	FOSL2	chr15:72518744-72520034	SK-N-SH	brain:	n/a	chr15:72519719-72519726 chr15:72519718-72519726 chr15:72519717-72519727 chr15:72519718-72519727
2	TCF12	chr15:72518892-72519516	ECC-1	luminal epithelium:	n/a	n/a
3	EP300	chr15:72519047-72519705	GM12878	blood:	n/a	n/a
4	CTCF	chr15:72519060-72519340	GM19239	blood:	n/a	n/a
5	NFIC	chr15:72518931-72519865	GM12878	blood:	n/a	chr15:72519750-72519766 chr15:72519056-72519072 chr15:72519749-72519766
6	POLR2A	chr15:72518830-72519966	HCT-116	colon:	n/a	n/a
7	RAD21	chr15:72518962-72519294	H1-hESC	embryonic stem cell:	n/a	n/a
8	CTCF	chr15:72519002-72519332	GM12892	blood:	n/a	n/a
9	POLR2A	chr15:72518413-72522208	HepG2	liver:	n/a	n/a
10	POLR2A	chr15:72519001-72519535	Raji	blood:	n/a	n/a
11	POLR2A	chr15:72517579-72524300	GM12892	blood:	n/a	n/a
12	NFATC1	chr15:72518907-72519957	GM12878	blood:	n/a	n/a
13	REST	chr15:72518828-72519773	A549	lung:	n/a	n/a
14	TCF12	chr15:72519022-72519398	HepG2	liver:	n/a	n/a
15	CTCF	chr15:72519048-72519303	MCF-7	breast:	n/a	n/a
16	RAD21	chr15:72518979-72519558	IMR90	lung:	n/a	chr15:72519329-72519343
17	POLR2A	chr15:72518982-72519518	GM18526	blood:	n/a	n/a
18	POLR2A	chr15:72518968-72519589	H1-hESC	embryonic stem cell:	n/a	n/a
19	NFIC	chr15:72518762-72519499	ECC-1	luminal epithelium:	n/a	chr15:72519056-72519072
20	POU2F2	chr15:72518902-72519520	GM12891	blood:	n/a	chr15:72519241-72519253
21	CTCF	chr15:72519060-72519210	BJ	skin:	n/a	n/a
22	NFIC	chr15:72518814-72520012	GM12878	blood:	n/a	chr15:72519750-72519766 chr15:72519056-72519072 chr15:72519749-72519766
23	TCF3	chr15:72518924-72519458	GM12878	blood:	n/a	chr15:72518988-72519002
24	TCF12	chr15:72518941-72519498	GM12878	blood:	n/a	n/a
25	CTCF	chr15:72518870-72519966	SK-N-SH	brain:	n/a	n/a
26	EP300	chr15:72518713-72519975	A549	lung:	n/a	chr15:72519718-72519727 chr15:72519717-72519726
27	POLR2A	chr15:72518944-72519812	K562	blood:	n/a	n/a
28	POLR2A	chr15:72517595-72520058	Hela-S3	cervix:	n/a	n/a
29	CHD2	chr15:72518998-72519292	H1-hESC	embryonic stem cell:	n/a	n/a
30	POLR2A	chr15:72518907-72519888	Hela-S3	cervix:	n/a	n/a
31	MAZ	chr15:72519030-72519757	GM12878	blood:	n/a	chr15:72519717-72519726 chr15:72519718-72519727
32	MXI1	chr15:72519009-72519492	HepG2	liver:	n/a	n/a
33	SIN3AK20	chr15:72518930-72519383	SK-N-SH	brain:	n/a	n/a
34	POLR2A	chr15:72518885-72519950	HCT-116	colon:	n/a	n/a
35	MBD4	chr15:72518953-72519487	HepG2	liver:	n/a	n/a
36	SIN3A	chr15:72519016-72519644	GM12878	blood:	n/a	n/a
37	POLR2A	chr15:72518901-72519393	A549	lung:	n/a	n/a
38	CTCF	chr15:72519038-72519259	LNCaP	prostate:	n/a	n/a
39	EP300	chr15:72518984-72519817	GM12878	blood:	n/a	chr15:72519718-72519727 chr15:72519717-72519726
40	ZNF384	chr15:72518999-72519808	K562	blood:	n/a	n/a
41	POLR2A	chr15:72518885-72519474	K562	blood:	n/a	n/a
42	CEBPB	chr15:72518915-72519350	A549	lung:	n/a	n/a
43	MAZ	chr15:72518964-72519497	Hela-S3	cervix:	n/a	n/a
44	POLR2A	chr15:72517612-72524924	GM12892	blood:	n/a	n/a
45	RAD21	chr15:72518989-72519514	A549	lung:	n/a	chr15:72519329-72519343
46	POLR2A	chr15:72518976-72519950	GM12892	blood:	n/a	n/a
47	POLR2A	chr15:72518950-72519969	GM19099	blood:	n/a	n/a
48	RAD21	chr15:72519005-72519318	HepG2	liver:	n/a	n/a
49	POLR2A	chr15:72518905-72519945	SK-N-MC	brain:	n/a	n/a
50	RCOR1	chr15:72519041-72519395	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:72517634..72519273-chr15:72611202..72613447,2	MCF-7	breast:
2	chr15:72517678..72519194-chr15:72765569..72767844,2	MCF-7	breast:
3	chr15:72518397..72520643-chr15:72555836..72558368,2	K562	blood:
4	chr15:72409625..72411643-chr15:72517695..72521104,3	MCF-7	breast:
5	chr15:72518920..72521207-chr15:72667359..72669171,2	MCF-7	breast:
6	chr15:72460300..72462462-chr15:72516600..72519348,2	MCF-7	breast:
7	chr15:72518424..72531344-chr15:72562525..72571046,23	K562	blood:
8	chr1:51434221..51435124-chr15:72518990..72519616,2	Hela-S3	cervix:
9	chr15:72518953..72519823-chr15:93347296..93347802,2	Hela-S3	cervix:
10	chr15:72514333..72526693-chr15:72558323..72568559,52	MCF-7	breast:
11	chr15:72516353..72519087-chr15:72549538..72551864,2	MCF-7	breast:
12	chr15:72519045..72520714-chr15:72603580..72606385,2	K562	blood:

Variant related genes	Relation type
PKM	TF binding region
ENSG00000273025	Chromatin interaction
ENSG00000261423	Chromatin interaction
ENSG00000166192	Chromatin interaction
ENSG00000260339	Chromatin interaction
ENSG00000213614	Chromatin interaction
ENSG00000137817	Chromatin interaction
ENSG00000175318	Chromatin interaction
ENSG00000260729	Chromatin interaction
ENSG00000140488	Chromatin interaction
ENSG00000123080	Chromatin interaction
ENSG00000066933	Chromatin interaction
ENSG00000166233	Chromatin interaction

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs13329116	1.00[AMR][1000 genomes]
rs13329270	1.00[AMR][1000 genomes]
rs13329340	1.00[AMR][1000 genomes]
rs28367264	1.00[AMR][1000 genomes]
rs28373432	1.00[AMR][1000 genomes]
rs28378260	1.00[AMR][1000 genomes]
rs28393460	1.00[AMR][1000 genomes]
rs28396210	0.90[AFR][1000 genomes]
rs28396234	1.00[AMR][1000 genomes]
rs28397237	1.00[AMR][1000 genomes]
rs28403882	1.00[AMR][1000 genomes]
rs28408067	1.00[AMR][1000 genomes]
rs28418777	0.90[AFR][1000 genomes]
rs28429589	1.00[AMR][1000 genomes]
rs28448787	1.00[AMR][1000 genomes]
rs28450008	1.00[AMR][1000 genomes]
rs28450424	1.00[AMR][1000 genomes]
rs28451732	1.00[AMR][1000 genomes]
rs28455090	1.00[AMR][1000 genomes]
rs28456991	1.00[AMR][1000 genomes]
rs28482979	1.00[AMR][1000 genomes]
rs28483934	1.00[AMR][1000 genomes]
rs28504509	1.00[AMR][1000 genomes]
rs28542557	1.00[AMR][1000 genomes]
rs28543029	1.00[AMR][1000 genomes]
rs28547979	1.00[AMR][1000 genomes]
rs28552371	1.00[AMR][1000 genomes]
rs28553452	1.00[AMR][1000 genomes]
rs28569017	1.00[AMR][1000 genomes]
rs28573725	1.00[AMR][1000 genomes]
rs28575504	0.81[AFR][1000 genomes]
rs28583168	1.00[AMR][1000 genomes]
rs28628140	1.00[AMR][1000 genomes]
rs28628792	1.00[AMR][1000 genomes]
rs28634283	1.00[AMR][1000 genomes]
rs28636054	1.00[AMR][1000 genomes]
rs28639590	1.00[AMR][1000 genomes]
rs28643436	1.00[AMR][1000 genomes]
rs28654851	1.00[AMR][1000 genomes]
rs28654861	1.00[AMR][1000 genomes]
rs28657431	1.00[AMR][1000 genomes]
rs28658414	1.00[AMR][1000 genomes]
rs28660217	1.00[AMR][1000 genomes]
rs28660581	1.00[AMR][1000 genomes]
rs28663692	1.00[AMR][1000 genomes]
rs28667521	1.00[AMR][1000 genomes]
rs28667912	0.81[AFR][1000 genomes]
rs28675378	1.00[AMR][1000 genomes]
rs28701136	1.00[AMR][1000 genomes]
rs28703826	1.00[AFR][1000 genomes]
rs28707151	1.00[AMR][1000 genomes]
rs28707565	1.00[AMR][1000 genomes]
rs28725348	1.00[AMR][1000 genomes]
rs28727443	1.00[AMR][1000 genomes]
rs28741048	1.00[AMR][1000 genomes]
rs28791192	1.00[AMR][1000 genomes]
rs28801155	1.00[AMR][1000 genomes]
rs28808678	1.00[AMR][1000 genomes]
rs28824293	1.00[AMR][1000 genomes]
rs28833566	1.00[AMR][1000 genomes]
rs28872877	1.00[AMR][1000 genomes]
rs28879707	1.00[AMR][1000 genomes]
rs74022835	0.90[AFR][1000 genomes]
rs9920204	1.00[AMR][1000 genomes]
rs9920223	1.00[AMR][1000 genomes]
rs9920987	1.00[AMR][1000 genomes]
rs9920990	1.00[AFR][1000 genomes]
rs9920991	1.00[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	chr15:72512600-72519200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
3	chr15:72514400-72519600	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
4	chr15:72515000-72519200	Enhancers	Skeletal Muscle Female	skeletal muscle
5	chr15:72516600-72520000	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr15:72517600-72519400	Enhancers	Fetal Heart	heart
7	chr15:72517800-72519200	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
8	chr15:72517800-72519200	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr15:72517800-72519400	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr15:72517800-72519400	Enhancers	Brain Angular Gyrus	brain
11	chr15:72517800-72519600	Enhancers	Primary T helper naive cells from peripheral blood	blood
12	chr15:72517800-72520200	Enhancers	Primary T killer memory cells from peripheral blood	blood
13	chr15:72517800-72520200	Enhancers	Brain Cingulate Gyrus	brain
14	chr15:72517800-72520200	Enhancers	Pancreatic Islets	Pancreatic Islet
15	chr15:72517800-72521000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr15:72517800-72521000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
17	chr15:72517800-72522600	Transcr. at gene 5' and 3'	A549	lung
18	chr15:72518000-72519200	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr15:72518000-72519200	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr15:72518000-72519200	Enhancers	Brain Hippocampus Middle	brain
21	chr15:72518000-72519200	Enhancers	Colon Smooth Muscle	Colon
22	chr15:72518000-72519200	Enhancers	HSMMtube	muscle
23	chr15:72518000-72520200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr15:72518000-72520400	Enhancers	Fetal Muscle Leg	muscle
25	chr15:72518200-72519400	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr15:72518200-72520400	Enhancers	Primary B cells from peripheral blood	blood
27	chr15:72518400-72519200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr15:72518400-72519400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr15:72518400-72519400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr15:72518400-72519400	Enhancers	Esophagus	oesophagus
31	chr15:72518400-72519400	Enhancers	Fetal Thymus	thymus
32	chr15:72518400-72519400	Enhancers	Lung	lung
33	chr15:72518400-72519400	Enhancers	Psoas Muscle	Psoas
34	chr15:72518400-72519600	Enhancers	Thymus	Thymus
35	chr15:72518400-72519800	Flanking Active TSS	NH-A	brain
36	chr15:72518400-72520200	Enhancers	Right Ventricle	heart
37	chr15:72518400-72520400	Enhancers	Fetal Brain Female	brain
38	chr15:72518400-72521000	Enhancers	Colonic Mucosa	Colon
39	chr15:72518400-72521600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
40	chr15:72518400-72521600	Enhancers	Fetal Intestine Large	intestine
41	chr15:72518400-72521800	Enhancers	Spleen	Spleen
42	chr15:72518600-72519800	Flanking Active TSS	NHEK	skin
43	chr15:72518600-72520200	Enhancers	Fetal Muscle Trunk	muscle
44	chr15:72518600-72520800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
45	chr15:72518600-72522200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
46	chr15:72518800-72519200	Flanking Active TSS	Primary T cells from cord blood	blood
47	chr15:72518800-72519200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr15:72518800-72519400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr15:72518800-72519400	Genic enhancers	Fetal Intestine Small	intestine
50	chr15:72518800-72519800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell

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