Variant report

Variant	rs28478952
Chromosome Location	chr8:6565163-6565164
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	MAFK	chr8:6565152-6566402	Hela-S3	cervix:	n/a	n/a
2	STAT5A	chr8:6565085-6567738	GM12878	blood:	n/a	chr8:6565688-6565700 chr8:6565208-6565215
3	POLR2A	chr8:6563393-6568475	GM18505	blood:	n/a	n/a
4	ATF2	chr8:6564823-6567769	GM12878	blood:	n/a	n/a
5	PML	chr8:6564863-6568603	GM12878	blood:	n/a	n/a
6	IRF1	chr8:6565125-6567726	K562	blood:	n/a	chr8:6566643-6566657 chr8:6567173-6567187 chr8:6566106-6566115 chr8:6565798-6565807 chr8:6567172-6567184 chr8:6566856-6566868
7	POLR2A	chr8:6565160-6567838	GM19193	blood:	n/a	n/a
8	POLR2A	chr8:6565148-6566945	GM19099	blood:	n/a	n/a
9	CEBPB	chr8:6565032-6565300	K562	blood:	n/a	n/a
10	TBL1XR1	chr8:6565125-6565283	GM12878	blood:	n/a	n/a
11	POLR2A	chr8:6564880-6568149	GM12878	blood:	n/a	n/a
12	POLR2A	chr8:6565059-6566981	PFSK-1	brain:	n/a	n/a
13	POLR2A	chr8:6565042-6567643	GM12892	blood:	n/a	n/a
14	IRF1	chr8:6564978-6567455	K562	blood:	n/a	chr8:6566643-6566657 chr8:6567173-6567187 chr8:6566106-6566115 chr8:6565798-6565807 chr8:6567172-6567184 chr8:6566856-6566868
15	MAZ	chr8:6565055-6566911	K562	blood:	n/a	chr8:6566527-6566538 chr8:6565837-6565846 chr8:6566528-6566537 chr8:6566527-6566538
16	POLR2A	chr8:6564875-6568226	GM12892	blood:	n/a	n/a
17	NFATC1	chr8:6564925-6567017	GM12878	blood:	n/a	n/a
18	TBL1XR1	chr8:6565140-6566255	K562	blood:	n/a	n/a
19	MAX	chr8:6565144-6566996	HepG2	liver:	n/a	chr8:6566527-6566538 chr8:6565837-6565846 chr8:6566528-6566537 chr8:6566527-6566538
20	UBTF	chr8:6565155-6566937	K562	blood:	n/a	n/a
21	CHD1	chr8:6565112-6565452	H1-hESC	embryonic stem cell:	n/a	n/a
22	PML	chr8:6565107-6566043	GM12878	blood:	n/a	n/a
23	MAX	chr8:6565160-6566882	H1-hESC	embryonic stem cell:	n/a	chr8:6566527-6566538 chr8:6565837-6565846 chr8:6566528-6566537 chr8:6566527-6566538
24	HEY1	chr8:6564873-6566948	HepG2	liver:	n/a	chr8:6566528-6566537 chr8:6566141-6566156 chr8:6565983-6565998
25	BCLAF1	chr8:6565082-6568240	GM12878	blood:	n/a	chr8:6565887-6565900 chr8:6566647-6566660 chr8:6566634-6566643 chr8:6565982-6565995
26	MAX	chr8:6565112-6567127	A549	lung:	n/a	chr8:6566527-6566538 chr8:6565837-6565846 chr8:6566528-6566537 chr8:6566527-6566538
27	MAX	chr8:6565050-6567093	ECC-1	luminal epithelium:	n/a	chr8:6566527-6566538 chr8:6565837-6565846 chr8:6566528-6566537 chr8:6566527-6566538
28	ZC3H11A	chr8:6565122-6565990	K562	blood:	n/a	n/a
29	MAX	chr8:6565025-6567025	HCT-116	colon:	n/a	chr8:6566527-6566538 chr8:6565837-6565846 chr8:6566528-6566537 chr8:6566527-6566538
30	STAT3	chr8:6565115-6565222	GM12878	blood:	n/a	chr8:6565208-6565215
31	MXI1	chr8:6564937-6567140	IMR90	lung:	n/a	n/a
32	CEBPB	chr8:6565142-6565972	Hela-S3	cervix:	n/a	n/a
33	POLR2A	chr8:6563528-6568801	GM12878	blood:	n/a	n/a
34	TAF1	chr8:6565126-6566885	ECC-1	luminal epithelium:	n/a	n/a
35	RELA	chr8:6565068-6567454	GM19099	blood:	n/a	n/a
36	CUX1	chr8:6565102-6565277	K562	blood:	n/a	chr8:6565253-6565267
37	POLR2A	chr8:6565092-6567067	SK-N-MC	brain:	n/a	n/a
38	FOXM1	chr8:6565059-6567537	GM12878	blood:	n/a	n/a
39	CHD1	chr8:6565011-6568398	GM12878	blood:	n/a	chr8:6566145-6566155
40	POLR2A	chr8:6565110-6567799	PBDE	blood:	n/a	n/a
41	MYC	chr8:6565076-6567560	K562	blood:	n/a	chr8:6566527-6566538 chr8:6565837-6565846 chr8:6566528-6566537 chr8:6566527-6566538
42	CREB1	chr8:6565149-6566948	GM12878	blood:	n/a	n/a
43	BHLHE40	chr8:6565147-6567748	GM12878	blood:	n/a	chr8:6566447-6566463 chr8:6566528-6566537 chr8:6566528-6566537 chr8:6565732-6565748
44	STAT5A	chr8:6565115-6565736	GM12878	blood:	n/a	chr8:6565688-6565700 chr8:6565208-6565215
45	POLR2A	chr8:6565057-6567000	HUVEC	blood vessel:	n/a	n/a
46	ZBTB7A	chr8:6565052-6566912	ECC-1	luminal epithelium:	n/a	chr8:6566638-6566645
47	MTA3	chr8:6563318-6566068	GM12878	blood:	n/a	n/a
48	MXI1	chr8:6564946-6567978	GM12878	blood:	n/a	n/a
49	TBP	chr8:6565105-6567412	GM12878	blood:	n/a	n/a
50	NRF1	chr8:6565060-6566405	SK-N-SH	brain:	n/a	chr8:6565724-6565735 chr8:6566144-6566153 chr8:6565724-6565738 chr8:6565724-6565735

No.	Distal block	Cell Line	Cell type
1	chr8:6565037..6567895-chr8:6594661..6596413,3	K562	blood:
2	chr8:6564149..6568070-chr8:6601682..6607895,12	K562	blood:
3	chr8:6262974..6265715-chr8:6564962..6567789,4	MCF-7	breast:
4	chr8:6564149..6568457-chr8:6601682..6605924,8	K562	blood:

Variant related genes	Relation type
AGPAT5	TF binding region
ENSG00000155189	Chromatin interaction
ENSG00000147316	Chromatin interaction
ENSG00000246089	Chromatin interaction
ENSG00000266038	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1425784	0.83[ASN][1000 genomes]
rs1425785	0.83[ASN][1000 genomes]
rs1425786	0.83[ASN][1000 genomes]
rs1834450	0.83[ASN][1000 genomes]
rs1978547	0.83[ASN][1000 genomes]
rs2059537	0.81[ASN][1000 genomes]
rs2114060	0.83[ASN][1000 genomes]
rs2162152	0.83[ASN][1000 genomes]
rs2911988	0.83[ASN][1000 genomes]
rs2912083	0.83[ASN][1000 genomes]
rs2928578	1.00[EUR][1000 genomes]
rs2928614	0.83[ASN][1000 genomes]
rs2928616	0.83[ASN][1000 genomes]
rs2978949	1.00[EUR][1000 genomes]
rs4841551	0.81[ASN][1000 genomes]
rs7813375	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021175	chr8:5965453-6880364	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv1027682	chr8:6018123-6920312	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv1015981	chr8:6286575-6578450	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
4	nsv1027313	chr8:6286575-6920312	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
5	nsv1021684	chr8:6350091-6809455	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	esv2422383	chr8:6362389-6781593	Enhancers Bivalent Enhancer Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
7	nsv610004	chr8:6402366-6772913	Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
8	nsv1029241	chr8:6411300-6761720	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
9	nsv933075	chr8:6456475-7366650	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
10	nsv1025976	chr8:6472948-6686972	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Strong transcription 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 miRNA target site	15 gene(s)	inside rSNPs	diseases
11	nsv933768	chr8:6482944-6618221	Strong transcription Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
12	nsv831220	chr8:6527845-6728491	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
13	nsv1030637	chr8:6545498-6669949	Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
14	nsv1034115	chr8:6546984-6665832	Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:6543200-6565200	Weak transcription	Left Ventricle	heart
2	chr8:6552000-6565200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr8:6552000-6565200	Weak transcription	Pancreas	Pancrea
4	chr8:6554200-6565200	Weak transcription	Aorta	Aorta
5	chr8:6555600-6565200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr8:6557000-6565200	Weak transcription	Lung	lung
7	chr8:6563600-6565200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
8	chr8:6563600-6565200	Enhancers	Sigmoid Colon	Sigmoid Colon
9	chr8:6563600-6565200	Flanking Active TSS	Dnd41	blood
10	chr8:6563800-6565200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
11	chr8:6563800-6565600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr8:6564000-6565200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr8:6564000-6565400	Active TSS	Colonic Mucosa	Colon
14	chr8:6564000-6566600	Active TSS	Rectal Smooth Muscle	rectum
15	chr8:6564000-6567400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr8:6564000-6567600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr8:6564000-6568400	Active TSS	iPS-20b Cell Line	embryonic stem cell
18	chr8:6564200-6565400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr8:6564400-6565200	Enhancers	Primary neutrophils fromperipheralblood	blood
20	chr8:6564400-6565200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
21	chr8:6564400-6565200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
22	chr8:6564400-6565200	Enhancers	Fetal Heart	heart
23	chr8:6564400-6565400	Weak transcription	Spleen	Spleen
24	chr8:6564400-6567000	Active TSS	Primary T killer memory cells from peripheral blood	blood
25	chr8:6564400-6567200	Active TSS	ES-I3 Cell Line	embryonic stem cell
26	chr8:6564400-6567800	Active TSS	HepG2	liver
27	chr8:6564400-6568000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr8:6564600-6565200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr8:6564600-6565200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr8:6564600-6565200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr8:6564600-6565200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr8:6564600-6565200	Weak transcription	Esophagus	oesophagus
33	chr8:6564600-6565200	Weak transcription	Gastric	stomach
34	chr8:6564600-6565200	Weak transcription	Stomach Mucosa	stomach
35	chr8:6564600-6566800	Active TSS	Primary T helper cells PMA-I stimulated	--
36	chr8:6564600-6567200	Active TSS	HUES6 Cell Line	embryonic stem cell
37	chr8:6564600-6567200	Active TSS	Primary hematopoietic stem cells short term culture	blood
38	chr8:6564600-6567200	Active TSS	Rectal Mucosa Donor 29	rectum
39	chr8:6564600-6567400	Active TSS	H9 Cell Line	embryonic stem cell
40	chr8:6564600-6567400	Active TSS	iPS-18 Cell Line	embryonic stem cell
41	chr8:6564600-6567600	Active TSS	Fetal Intestine Small	intestine
42	chr8:6564600-6567600	Active TSS	A549	lung
43	chr8:6564600-6567800	Active TSS	H1 Cell Line	embryonic stem cell
44	chr8:6564600-6567800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr8:6564600-6568200	Active TSS	HMEC	breast
46	chr8:6564600-6568800	Active TSS	GM12878-XiMat	blood
47	chr8:6564800-6565400	Flanking Active TSS	Brain Germinal Matrix	brain
48	chr8:6564800-6567200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr8:6564800-6567200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr8:6564800-6567200	Active TSS	Fetal Intestine Large	intestine

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