Variant report

Variant	rs73271178
Chromosome Location	chr8:95907230-95907231
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	MAZ	chr8:95907221-95908162	GM12878	blood:	n/a	chr8:95908035-95908044
2	MTA3	chr8:95907017-95908294	GM12878	blood:	n/a	n/a
3	POLR2A	chr8:95906312-95909423	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr8:95907062-95907684	GM12878	blood:	n/a	n/a
5	POLR2A	chr8:95907198-95908148	GM12878	blood:	n/a	n/a
6	MAX	chr8:95906569-95909544	A549	lung:	n/a	chr8:95908461-95908468 chr8:95907052-95907061 chr8:95908035-95908044 chr8:95906818-95906827 chr8:95908582-95908592 chr8:95908460-95908469
7	MAX	chr8:95907166-95909478	A549	lung:	n/a	chr8:95908461-95908468 chr8:95908035-95908044 chr8:95908582-95908592 chr8:95908460-95908469
8	UBTF	chr8:95906764-95908271	K562	blood:	n/a	n/a
9	POLR2A	chr8:95907047-95909278	PANC-1	pancreas:	n/a	n/a
10	YY1	chr8:95907161-95908123	GM12892	blood:	n/a	chr8:95907645-95907659 chr8:95907431-95907445 chr8:95907701-95907710
11	RCOR1	chr8:95907135-95909342	K562	blood:	n/a	n/a
12	POLR2A	chr8:95907192-95907507	GM12891	blood:	n/a	n/a
13	HEY1	chr8:95907215-95907647	HepG2	liver:	n/a	n/a
14	EBF1	chr8:95907139-95907347	GM12878	blood:	n/a	n/a
15	MAX	chr8:95907184-95909283	SK-N-SH	brain:	n/a	chr8:95908461-95908468 chr8:95908035-95908044 chr8:95908582-95908592 chr8:95908460-95908469
16	E2F4	chr8:95906680-95909355	Hela-S3	cervix:	n/a	chr8:95908544-95908555 chr8:95908558-95908569 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
17	RUNX3	chr8:95907124-95907584	GM12878	blood:	n/a	n/a
18	POLR2A	chr8:95907180-95909192	NB4	blood:	n/a	n/a
19	POLR2A	chr8:95907199-95909071	GM15510	blood:	n/a	n/a
20	POLR2A	chr8:95907085-95907656	GM12892	blood:	n/a	n/a
21	POLR2A	chr8:95907000-95907735	GM12892	blood:	n/a	n/a
22	TCF12	chr8:95906638-95907685	ECC-1	luminal epithelium:	n/a	chr8:95907429-95907436 chr8:95906922-95906932 chr8:95906991-95907001
23	MAX	chr8:95907049-95909430	HCT-116	colon:	n/a	chr8:95908461-95908468 chr8:95907052-95907061 chr8:95908035-95908044 chr8:95908582-95908592 chr8:95908460-95908469
24	POLR2A	chr8:95907143-95908122	GM18951	blood:	n/a	n/a
25	POLR2A	chr8:95906702-95909571	Hela-S3	cervix:	n/a	n/a
26	JUND	chr8:95907203-95908348	K562	blood:	n/a	chr8:95907471-95907480 chr8:95907973-95907982
27	POLR2A	chr8:95907204-95908252	MCF10A-Er-Src	breast:	n/a	n/a
28	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
29	HCFC1	chr8:95905561-95909556	Hela-S3	cervix:	n/a	n/a
30	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
31	POLR2A	chr8:95907179-95908193	GM12878	blood:	n/a	n/a
32	POLR2A	chr8:95906600-95909154	Raji	blood:	n/a	n/a
33	MAX	chr8:95907178-95909369	Hela-S3	cervix:	n/a	chr8:95908461-95908468 chr8:95908035-95908044 chr8:95908582-95908592 chr8:95908460-95908469
34	POLR2A	chr8:95907176-95909014	GM18526	blood:	n/a	n/a
35	E2F6	chr8:95907156-95909376	A549	lung:	n/a	chr8:95907987-95907997 chr8:95907858-95907872 chr8:95907701-95907710 chr8:95907431-95907441 chr8:95907481-95907490 chr8:95908097-95908106 chr8:95907435-95907444 chr8:95908954-95908965 chr8:95909013-95909023
36	BRCA1	chr8:95907211-95907474	Hela-S3	cervix:	n/a	n/a
37	POLR2A	chr8:95907221-95907495	HepG2	liver:	n/a	n/a
38	E2F4	chr8:95907199-95908143	MCF10A-Er-Src	breast:	n/a	chr8:95907987-95907997 chr8:95907858-95907872 chr8:95907701-95907710 chr8:95907431-95907441 chr8:95907481-95907490 chr8:95908097-95908106 chr8:95907435-95907444
39	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
40	POLR2A	chr8:95907172-95908124	K562	blood:	n/a	n/a
41	TBP	chr8:95907199-95907608	Hela-S3	cervix:	n/a	n/a
42	STAT5A	chr8:95906897-95908311	GM12878	blood:	n/a	chr8:95907139-95907151 chr8:95907314-95907322
43	POLR2A	chr8:95907106-95909014	A549	lung:	n/a	n/a
44	TAF1	chr8:95907131-95908515	ECC-1	luminal epithelium:	n/a	n/a
45	SIN3AK20	chr8:95905630-95909476	MCF-7	breast:	n/a	n/a
46	SIN3AK20	chr8:95907221-95908461	PFSK-1	brain:	n/a	n/a
47	TCF12	chr8:95907125-95909353	A549	lung:	n/a	chr8:95908183-95908193 chr8:95907429-95907436
48	TBL1XR1	chr8:95907183-95907464	K562	blood:	n/a	n/a
49	POLR2A	chr8:95907149-95908195	K562	blood:	n/a	n/a
50	POLR2A	chr8:95907083-95908274	ECC-1	luminal epithelium:	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	chr8:95875914..95878170-chr8:95907063..95909574,2	K562	blood:
4	chr8:95833645..95837522-chr8:95905761..95911691,14	MCF-7	breast:
5	chr8:95906811..95909706-chr8:96035495..96039299,4	K562	blood:
6	chr8:95906396..95909110-chr8:96144664..96147276,2	MCF-7	breast:
7	chr8:95906455..95910081-chr8:96279389..96281894,5	K562	blood:
8	chr8:95907067..95909461-chr8:97274000..97276051,2	MCF-7	breast:
9	chr8:95833831..95839966-chr8:95906478..95910674,7	K562	blood:
10	chr8:95906302..95910709-chr8:96035472..96039639,10	MCF-7	breast:
11	chr8:95558228..95561115-chr8:95906355..95909204,2	K562	blood:
12	chr8:95833775..95836713-chr8:95905419..95909134,3	MCF-7	breast:
13	chr8:95906813..95909487-chr8:96144078..96147982,7	MCF-7	breast:
14	chr8:95905045..95910108-chr8:95959761..95963234,8	MCF-7	breast:
15	chr8:95906412..95908805-chr8:96098165..96100293,2	MCF-7	breast:
16	chr8:95905055..95911257-chr8:96032486..96039313,18	MCF-7	breast:
17	chr8:95907099..95910081-chr8:96279389..96285203,6	K562	blood:
18	chr8:95906811..95910746-chr8:96036982..96038663,3	K562	blood:
19	chr8:95731040..95733498-chr8:95907170..95908983,2	MCF-7	breast:
20	chr8:95823792..95825666-chr8:95907097..95909156,2	K562	blood:
21	chr8:95906309..95909766-chr8:96145150..96148465,4	K562	blood:

Variant related genes	Relation type
CCNE2	TF binding region
NDUFAF6	TF binding region
ENSG00000156471	Chromatin interaction
ENSG00000175895	Chromatin interaction
ENSG00000254248	Chromatin interaction
ENSG00000156162	Chromatin interaction
ENSG00000212997	Chromatin interaction
ENSG00000164941	Chromatin interaction
ENSG00000253878	Chromatin interaction
ENSG00000156172	Chromatin interaction
ENSG00000156170	Chromatin interaction
ENSG00000238791	Chromatin interaction
ENSG00000253773	Chromatin interaction
ENSG00000164938	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10956927	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11775475	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11776489	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11776687	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11777132	0.81[EUR][1000 genomes]
rs11777353	0.83[EUR][1000 genomes]
rs11779282	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11781429	0.84[EUR][1000 genomes]
rs11782617	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11783522	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11783589	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11783941	0.94[ASN][1000 genomes]
rs11784299	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11786088	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11786389	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11786451	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11787377	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12056517	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12056808	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs16893774	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16917079	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs16917082	0.83[EUR][1000 genomes]
rs16917093	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs16917106	0.94[ASN][1000 genomes]
rs16917117	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17359493	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs28399553	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28399563	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28399571	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2904889	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4075834	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4355737	0.84[EUR][1000 genomes]
rs57063661	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs58675831	0.83[EUR][1000 genomes]
rs59091366	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs59265059	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs59521030	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs60171840	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6989591	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7009940	0.94[ASN][1000 genomes]
rs716733	0.88[ASN][1000 genomes]
rs73269188	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73269198	0.83[EUR][1000 genomes]
rs73269199	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73271148	0.85[EUR][1000 genomes]
rs7834966	0.87[AMR][1000 genomes];0.84[EUR][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	chr8:95905400-95907400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr8:95905400-95907400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr8:95905600-95907400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr8:95905600-95907400	Flanking Active TSS	Fetal Thymus	thymus
5	chr8:95905600-95907400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
6	chr8:95905600-95909200	Active TSS	Brain Substantia Nigra	brain
7	chr8:95905600-95909200	Active TSS	Fetal Brain Female	brain
8	chr8:95905600-95909600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
9	chr8:95905800-95907400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
10	chr8:95905800-95907400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
11	chr8:95905800-95909600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr8:95905800-95909600	Flanking Active TSS	Primary hematopoietic stem cells	blood
13	chr8:95905800-95909600	Active TSS	Pancreatic Islets	Pancreatic Islet
14	chr8:95906000-95907400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
15	chr8:95906000-95907600	Flanking Active TSS	Primary B cells from cord blood	blood
16	chr8:95906000-95909200	Active TSS	ES-I3 Cell Line	embryonic stem cell
17	chr8:95906000-95909200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
18	chr8:95906000-95909200	Active TSS	Right Atrium	heart
19	chr8:95906200-95907400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
20	chr8:95906200-95907400	Flanking Active TSS	Adipose Nuclei	Adipose
21	chr8:95906200-95907400	Flanking Active TSS	Fetal Muscle Trunk	muscle
22	chr8:95906200-95909200	Active TSS	Fetal Intestine Small	intestine
23	chr8:95906200-95909400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr8:95906400-95907400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
25	chr8:95906400-95907400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
26	chr8:95906400-95907400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
27	chr8:95906400-95907400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
28	chr8:95906400-95907400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr8:95906400-95907400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
30	chr8:95906400-95907400	Flanking Active TSS	Liver	Liver
31	chr8:95906400-95907400	Flanking Active TSS	Colonic Mucosa	Colon
32	chr8:95906400-95907400	Flanking Active TSS	Placenta	Placenta
33	chr8:95906400-95907400	Flanking Active TSS	Stomach Smooth Muscle	stomach
34	chr8:95906400-95909400	Active TSS	H9 Cell Line	embryonic stem cell
35	chr8:95906600-95907400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr8:95906600-95907400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
37	chr8:95906600-95907400	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
38	chr8:95906600-95907400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
39	chr8:95906600-95909200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr8:95906600-95909200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr8:95906600-95909200	Active TSS	Colon Smooth Muscle	Colon
42	chr8:95906600-95909200	Active TSS	Fetal Intestine Large	intestine
43	chr8:95906600-95909200	Active TSS	Fetal Kidney	kidney
44	chr8:95906600-95909200	Active TSS	Fetal Stomach	stomach
45	chr8:95906600-95909200	Active TSS	Gastric	stomach
46	chr8:95906600-95909200	Active TSS	Left Ventricle	heart
47	chr8:95906600-95909200	Active TSS	Small Intestine	intestine
48	chr8:95906600-95909200	Active TSS	Hela-S3	cervix
49	chr8:95906600-95909400	Active TSS	Primary T killer memory cells from peripheral blood	blood
50	chr8:95906600-95909400	Active TSS	Right Ventricle	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links