Variant report

Variant	rs2466431
Chromosome Location	chr8:95906554-95906555
allele	C/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	POLR2A	chr8:95906312-95909423	H1-hESC	embryonic stem cell:	n/a	n/a
2	MXI1	chr8:95906400-95906606	H1-hESC	embryonic stem cell:	n/a	n/a
3	TBP	chr8:95906379-95906639	H1-hESC	embryonic stem cell:	n/a	n/a
4	MXI1	chr8:95906481-95906830	GM12878	blood:	n/a	n/a
5	MXI1	chr8:95906523-95906955	Hela-S3	cervix:	n/a	n/a
6	SIN3A	chr8:95905721-95909315	H1-hESC	embryonic stem cell:	n/a	chr8:95908237-95908248 chr8:95907214-95907227 chr8:95906806-95906819 chr8:95906987-95906998 chr8:95908097-95908108 chr8:95908761-95908769
7	POLR2A	chr8:95906410-95906950	Hela-S3	cervix:	n/a	n/a
8	HCFC1	chr8:95905561-95909556	Hela-S3	cervix:	n/a	n/a
9	MAX	chr8:95906534-95909453	HepG2	liver:	n/a	chr8:95908461-95908468 chr8:95907052-95907061 chr8:95908035-95908044 chr8:95906818-95906827 chr8:95908582-95908592 chr8:95908460-95908469
10	MAX	chr8:95906404-95909411	MCF-7	breast:	n/a	chr8:95908461-95908468 chr8:95907052-95907061 chr8:95908035-95908044 chr8:95906818-95906827 chr8:95908582-95908592 chr8:95908460-95908469
11	SIN3AK20	chr8:95905630-95909476	MCF-7	breast:	n/a	n/a
12	MAZ	chr8:95906545-95906963	Hela-S3	cervix:	n/a	chr8:95906818-95906827
13	CTBP2	chr8:95906150-95908347	H1-hESC	embryonic stem cell:	n/a	n/a
14	SIN3AK20	chr8:95906295-95906678	H1-hESC	embryonic stem cell:	n/a	n/a
15	SIN3AK20	chr8:95906458-95908990	MCF-7	breast:	n/a	n/a
16	MAX	chr8:95906514-95909492	MCF-7	breast:	n/a	chr8:95908461-95908468 chr8:95907052-95907061 chr8:95908035-95908044 chr8:95906818-95906827 chr8:95908582-95908592 chr8:95908460-95908469
17	GATA1	chr8:95905339-95906912	PBDE	blood:	n/a	chr8:95905684-95905692
18	TEAD4	chr8:95906364-95906729	H1-hESC	embryonic stem cell:	n/a	n/a
19	BACH1	chr8:95906321-95906874	H1-hESC	embryonic stem cell:	n/a	n/a
20	JUND	chr8:95906553-95906761	H1-hESC	embryonic stem cell:	n/a	n/a
21	TEAD4	chr8:95906529-95906959	K562	blood:	n/a	n/a
22	SMARCB1	chr8:95906357-95909312	Hela-S3	cervix:	n/a	n/a
23	UBTF	chr8:95906521-95909391	K562	blood:	n/a	n/a
24	MAZ	chr8:95906475-95909505	K562	blood:	n/a	chr8:95908461-95908468 chr8:95907052-95907061 chr8:95908035-95908044 chr8:95906818-95906827 chr8:95908582-95908592 chr8:95908460-95908469
25	MAX	chr8:95906380-95906631	H1-hESC	embryonic stem cell:	n/a	n/a
26	POLR2A	chr8:95906492-95909263	K562	blood:	n/a	n/a
27	HA-E2F1	chr8:95906446-95909426	MCF-7	breast:	n/a	chr8:95907987-95907997 chr8:95906916-95906928 chr8:95907858-95907872 chr8:95907701-95907710 chr8:95906887-95906902 chr8:95907431-95907441 chr8:95907481-95907490 chr8:95908097-95908106 chr8:95907435-95907444 chr8:95909013-95909023
28	POLR2A	chr8:95906339-95909312	Hela-S3	cervix:	n/a	n/a
29	MXI1	chr8:95906447-95909476	IMR90	lung:	n/a	n/a
30	HDAC2	chr8:95906359-95909454	MCF-7	breast:	n/a	n/a
31	POLR2A	chr8:95905613-95909393	SK-N-MC	brain:	n/a	n/a
32	JUN	chr8:95905679-95909615	K562	blood:	n/a	chr8:95907471-95907480 chr8:95907973-95907982 chr8:95906827-95906836
33	SIN3AK20	chr8:95906282-95907059	H1-hESC	embryonic stem cell:	n/a	n/a
34	YY1	chr8:95906383-95906630	H1-hESC	embryonic stem cell:	n/a	chr8:95906597-95906616
35	TEAD4	chr8:95906332-95906788	H1-hESC	embryonic stem cell:	n/a	n/a
36	POLR2A	chr8:95906471-95906791	MCF10A-Er-Src	breast:	n/a	n/a
37	POLR2A	chr8:95906550-95909273	ECC-1	luminal epithelium:	n/a	n/a
38	POLR2A	chr8:95906417-95906610	Hela-S3	cervix:	n/a	n/a
39	POLR2A	chr8:95906525-95909291	K562	blood:	n/a	n/a
40	ELF1	chr8:95906447-95908417	MCF-7	breast:	n/a	chr8:95907651-95907660
41	USF2	chr8:95906551-95906627	H1-hESC	embryonic stem cell:	n/a	n/a
42	MTA3	chr8:95906239-95906807	GM12878	blood:	n/a	n/a
43	CTCF	chr8:95906520-95906670	HCPEpiC	choroid plexus:	n/a	n/a
44	MXI1	chr8:95905609-95910254	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:95839618..95841636-chr8:95906107..95908879,2	K562	blood:
2	chr8:95905635..95908338-chr8:95917636..95919532,2	MCF-7	breast:
3	chr8:95833645..95837522-chr8:95905761..95911691,14	MCF-7	breast:
4	chr8:95905969..95907155-chr8:96036661..96037534,3	MCF-7	breast:
5	chr8:95906396..95909110-chr8:96144664..96147276,2	MCF-7	breast:
6	chr8:95906455..95910081-chr8:96279389..96281894,5	K562	blood:
7	chr8:95833831..95839966-chr8:95906478..95910674,7	K562	blood:
8	chr8:95906302..95910709-chr8:96035472..96039639,10	MCF-7	breast:
9	chr8:95558228..95561115-chr8:95906355..95909204,2	K562	blood:
10	chr8:95833775..95836713-chr8:95905419..95909134,3	MCF-7	breast:
11	chr8:95905045..95910108-chr8:95959761..95963234,8	MCF-7	breast:
12	chr8:95906412..95908805-chr8:96098165..96100293,2	MCF-7	breast:
13	chr8:95905055..95911257-chr8:96032486..96039313,18	MCF-7	breast:
14	chr8:95906309..95909766-chr8:96145150..96148465,4	K562	blood:

Variant related genes	Relation type
NDUFAF6	TF binding region
CCNE2	TF binding region
ENSG00000175895	Chromatin interaction
ENSG00000156172	Chromatin interaction
ENSG00000212997	Chromatin interaction
ENSG00000164938	Chromatin interaction
ENSG00000253878	Chromatin interaction
ENSG00000253773	Chromatin interaction
ENSG00000238791	Chromatin interaction
ENSG00000254248	Chromatin interaction
ENSG00000156170	Chromatin interaction
ENSG00000164941	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1017634	0.92[ASN][1000 genomes]
rs11025	1.00[AFR][1000 genomes]
rs12176630	1.00[AFR][1000 genomes]
rs1971212	0.92[ASN][1000 genomes]
rs2013995	0.92[ASN][1000 genomes]
rs2253173	0.92[ASN][1000 genomes]
rs2459963	0.86[ASN][1000 genomes]
rs2459964	0.92[ASN][1000 genomes]
rs2459965	0.92[ASN][1000 genomes]
rs2466432	1.00[CEU][hapmap];1.00[AFR][1000 genomes]
rs2467670	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2467672	0.92[ASN][1000 genomes]
rs2467673	0.93[ASN][1000 genomes]
rs2467674	0.92[ASN][1000 genomes]
rs2467675	0.95[ASN][1000 genomes]
rs2467676	0.90[ASN][1000 genomes]
rs2467678	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2515235	0.92[ASN][1000 genomes]
rs2515237	0.85[ASN][1000 genomes]
rs36118131	0.86[ASN][1000 genomes]
rs7760	1.00[CEU][hapmap];0.95[ASN][1000 genomes]
rs896849	0.92[ASN][1000 genomes]

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	nsv1017301	chr8:95273503-96248352	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv539680	chr8:95273503-96248352	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv532338	chr8:95296118-95971825	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	nsv891203	chr8:95883232-95948202	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv891204	chr8:95883232-95965135	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 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	chr8:95876200-95906600	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr8:95879200-95906600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr8:95882200-95906600	Weak transcription	Gastric	stomach
4	chr8:95888200-95906600	Weak transcription	Ovary	ovary
5	chr8:95890200-95906600	Weak transcription	Lung	lung
6	chr8:95890600-95906800	Weak transcription	Aorta	Aorta
7	chr8:95891000-95906600	Weak transcription	Left Ventricle	heart
8	chr8:95896200-95906600	Weak transcription	HSMMtube	muscle
9	chr8:95898800-95906600	Weak transcription	Right Ventricle	heart
10	chr8:95905400-95906600	Flanking Active TSS	Hela-S3	cervix
11	chr8:95905400-95907400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr8:95905400-95907400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr8:95905600-95906600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr8:95905600-95906600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr8:95905600-95906600	Enhancers	Pancreas	Pancrea
16	chr8:95905600-95906600	Enhancers	Sigmoid Colon	Sigmoid Colon
17	chr8:95905600-95906600	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr8:95905600-95906600	Enhancers	Small Intestine	intestine
19	chr8:95905600-95906800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr8:95905600-95906800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
21	chr8:95905600-95907000	Flanking Active TSS	HUVEC	blood vessel
22	chr8:95905600-95907200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
23	chr8:95905600-95907400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr8:95905600-95907400	Flanking Active TSS	Fetal Thymus	thymus
25	chr8:95905600-95907400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
26	chr8:95905600-95909200	Active TSS	Brain Substantia Nigra	brain
27	chr8:95905600-95909200	Active TSS	Fetal Brain Female	brain
28	chr8:95905600-95909600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
29	chr8:95905800-95906600	Enhancers	Primary T helper naive cells from peripheral blood	blood
30	chr8:95905800-95906600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr8:95905800-95906600	Flanking Active TSS	Brain Germinal Matrix	brain
32	chr8:95905800-95906600	Enhancers	Colon Smooth Muscle	Colon
33	chr8:95905800-95906600	Enhancers	Duodenum Smooth Muscle	Duodenum
34	chr8:95905800-95906600	Enhancers	Esophagus	oesophagus
35	chr8:95905800-95906600	Enhancers	Fetal Brain Male	brain
36	chr8:95905800-95906600	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
37	chr8:95905800-95906600	Enhancers	Stomach Mucosa	stomach
38	chr8:95905800-95906800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
39	chr8:95905800-95906800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr8:95905800-95906800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr8:95905800-95906800	Flanking Active TSS	Duodenum Mucosa	Duodenum
42	chr8:95905800-95906800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
43	chr8:95905800-95906800	Enhancers	Spleen	Spleen
44	chr8:95905800-95907000	Flanking Active TSS	Thymus	Thymus
45	chr8:95905800-95907200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr8:95905800-95907400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
47	chr8:95905800-95907400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
48	chr8:95905800-95909600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr8:95905800-95909600	Flanking Active TSS	Primary hematopoietic stem cells	blood
50	chr8:95905800-95909600	Active TSS	Pancreatic Islets	Pancreatic Islet

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