Variant report

Variant	rs11988053
Chromosome Location	chr8:67025500-67025501
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:435)
CpG islands
(count:61)
Chromatin interactive
region (count:2)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:435 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr8:67025165-67025732	K562	blood:	n/a	n/a
2	GABPA	chr8:67025492-67025844	Hela-S3	cervix:	n/a	chr8:67025511-67025522 chr8:67025511-67025525
3	ELF1	chr8:67025393-67025927	A549	lung:	n/a	n/a
4	POLR2A	chr8:67024994-67026949	GM19099	blood:	n/a	n/a
5	TAF1	chr8:67025235-67025980	SK-N-SH	brain:	n/a	n/a
6	EP300	chr8:67025156-67026205	HepG2	liver:	n/a	chr8:67026128-67026142 chr8:67026038-67026054 chr8:67026172-67026179
7	MAZ	chr8:67025195-67026781	GM12878	blood:	n/a	n/a
8	MYC	chr8:67025121-67025864	HepG2	liver:	n/a	n/a
9	TBL1XR1	chr8:67025031-67025919	K562	blood:	n/a	n/a
10	POU2F2	chr8:67025467-67025713	GM12878	blood:	n/a	n/a
11	POLR2A	chr8:67024820-67026378	PFSK-1	brain:	n/a	n/a
12	MXI1	chr8:67024888-67026777	HepG2	liver:	n/a	n/a
13	JUND	chr8:67025320-67026674	A549	lung:	n/a	chr8:67025352-67025361 chr8:67026319-67026328 chr8:67026318-67026327
14	YY1	chr8:67025102-67026615	HepG2	liver:	n/a	chr8:67025986-67026000 chr8:67025983-67025997
15	NR2F2	chr8:67025288-67025893	K562	blood:	n/a	n/a
16	ETS1	chr8:67025482-67025899	GM12878	blood:	n/a	n/a
17	MAFK	chr8:67025016-67025814	HepG2	liver:	n/a	n/a
18	E2F4	chr8:67025102-67026595	K562	blood:	n/a	n/a
19	TEAD4	chr8:67025277-67026794	A549	lung:	n/a	n/a
20	POLR2A	chr8:67024835-67027107	GM12878	blood:	n/a	n/a
21	GABPA	chr8:67025336-67025821	K562	blood:	n/a	chr8:67025511-67025522 chr8:67025459-67025470 chr8:67025459-67025468 chr8:67025511-67025525 chr8:67025459-67025473 chr8:67025456-67025470
22	MYC	chr8:67025047-67025764	MCF-7	breast:	n/a	n/a
23	POLR2A	chr8:67024924-67027057	GM12892	blood:	n/a	n/a
24	ATF2	chr8:67025343-67025974	GM12878	blood:	n/a	n/a
25	CHD2	chr8:67024938-67026675	Hela-S3	cervix:	n/a	n/a
26	SIX5	chr8:67025263-67027080	A549	lung:	n/a	n/a
27	TCF12	chr8:67025244-67025761	H1-hESC	embryonic stem cell:	n/a	chr8:67025396-67025403
28	CREB1	chr8:67025335-67025960	A549	lung:	n/a	n/a
29	PAX5	chr8:67025064-67025859	GM12878	blood:	n/a	n/a
30	JUND	chr8:67025078-67027175	K562	blood:	n/a	chr8:67025352-67025361 chr8:67026319-67026328 chr8:67026318-67026327
31	GTF2F1	chr8:67025235-67025830	H1-hESC	embryonic stem cell:	n/a	n/a
32	TEAD4	chr8:67025345-67026790	K562	blood:	n/a	n/a
33	REST	chr8:67025079-67025996	A549	lung:	n/a	n/a
34	JUND	chr8:67025089-67026168	H1-hESC	embryonic stem cell:	n/a	chr8:67025352-67025361
35	BRF1	chr8:67025390-67025769	K562	blood:	n/a	n/a
36	POLR2A	chr8:67024981-67025774	HepG2	liver:	n/a	n/a
37	MAX	chr8:67024823-67025989	K562	blood:	n/a	n/a
38	CTCF	chr8:67025460-67025610	GM12864	blood:	n/a	n/a
39	MBD4	chr8:67025018-67025957	HepG2	liver:	n/a	n/a
40	POLR2A	chr8:67025176-67026270	HUVEC	blood vessel:	n/a	n/a
41	MYBL2	chr8:67024931-67026838	HepG2	liver:	n/a	n/a
42	MAFK	chr8:67025073-67025831	HepG2	liver:	n/a	n/a
43	POLR2A	chr8:67025153-67027123	HUVEC	blood vessel:	n/a	n/a
44	SIN3AK20	chr8:67025145-67025951	SK-N-SH	brain:	n/a	n/a
45	BHLHE40	chr8:67025075-67026948	K562	blood:	n/a	chr8:67025986-67026002
46	MBD4	chr8:67025001-67025839	HepG2	liver:	n/a	n/a
47	YY1	chr8:67025387-67027010	GM12878	blood:	n/a	chr8:67025986-67026000 chr8:67026713-67026729 chr8:67025983-67025997 chr8:67026718-67026728
48	NFIC	chr8:67024921-67025931	HepG2	liver:	n/a	n/a
49	ELK4	chr8:67025480-67026038	Hela-S3	cervix:	n/a	n/a
50	FOXM1	chr8:67025195-67026750	GM12878	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:67025467-67025517	SKMC	muscle:	n/a
2	chr8:67025467-67025517	HUVEC	blood vessel:	n/a
3	chr8:67025467-67025517	GM12892	blood:	n/a
4	chr8:67025467-67025517	PFSK-1	brain:	n/a
5	chr8:67025467-67025517	NB4	blood:	n/a
6	chr8:67025467-67025517	GM12878	blood:	n/a
7	chr8:67025467-67025517	K562	blood:	n/a
8	chr8:67025467-67025517	HCM	heart:	n/a
9	chr8:67025467-67025517	NT2-D1	testis:	n/a
10	chr8:67025467-67025517	HCPEpiC	choroid plexus:	n/a
11	chr8:67025467-67025517	AG04449	skin:	fetal
12	chr8:67025467-67025517	BE2_C	brain:	n/a
13	chr8:67025467-67025517	HRCEpiC	kidney:	n/a
14	chr8:67025467-67025517	AG09309	skin:	n/a
15	chr8:67025467-67025517	HRE	kidney:	n/a
16	chr8:67025467-67025517	MCF-7	breast:	n/a
17	chr8:67025467-67025517	PANC-1	pancreas:	n/a
18	chr8:67025467-67025517	BJ	skin:	n/a
19	chr8:67025467-67025517	IMR90	lung:	fetal
20	chr8:67025467-67025517	AG04450	lung:	fetal
21	chr8:67025467-67025517	HAEpiC	amniotic membrane:	n/a
22	chr8:67025467-67025517	H1-hESC	embryonic stem cell:	embryo
23	chr8:67025467-67025517	AG09319	gingival:	n/a
24	chr8:67025467-67025517	A549	lung:	n/a
25	chr8:67025467-67025517	HCT-116	colon:	n/a
26	chr8:67025467-67025517	HIPEpiC	eye:	n/a
27	chr8:67025467-67025517	GM19239	blood:	n/a
28	chr8:67025467-67025517	Hela-S3	cervix:	n/a
29	chr8:67025467-67025517	U87	brain:	n/a
30	chr8:67025467-67025517	Jurkat	blood:	n/a
31	chr8:67025467-67025517	MCF10A-Er-Src	breast:	n/a
32	chr8:67025467-67025517	ECC-1	luminal epithelium:	n/a
33	chr8:67025467-67025517	HNPCEpiC	eye:	n/a
34	chr8:67025467-67025517	RPTEC	kidney:	n/a
35	chr8:67025467-67025517	SK-N-MC	brain:	n/a
36	chr8:67025467-67025517	HEEpiC	esophagus:	n/a
37	chr8:67025467-67025517	PrEC	prostate:	n/a
38	chr8:67025467-67025517	HMEC	breast:	n/a
39	chr8:67025467-67025517	HEK293	kidney:	embryo
40	chr8:67025467-67025517	HRPEpiC	eye:	n/a
41	chr8:67025467-67025517	SK-N-SH_RA	brain:	n/a
42	chr8:67025467-67025517	HL-60	blood:	n/a
43	chr8:67025467-67025517	HPAEpiC	pulmonary alveolar:	n/a
44	chr8:67025467-67025517	GM12891	blood:	n/a
45	chr8:67025467-67025517	SK-N-SH	brain:	n/a
46	chr8:67025467-67025517	ovcar-3	ovarian:	n/a
47	chr8:67025467-67025517	HCF	heart:	n/a
48	chr8:67025467-67025517	CMK	blood:	n/a
49	chr8:67025467-67025517	Hepatocyte	liver:	n/a
50	chr8:67025467-67025517	HepG2	liver:	n/a

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:67023862..67029462-chr8:67339600..67346087,12	MCF-7	breast:
2	chr8:67024747..67027371-chr8:67038783..67042182,4	MCF-7	breast:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC084082.3.1-1	chr8:67025482-67025831	NONHSAT127007

No data

Variant related genes	Relation type
ENSG00000253190	TF binding region
ENSG00000253190	CpG island
ENSG00000147573	Chromatin interaction
ENSG00000246145	Chromatin interaction
ENSG00000147576	Chromatin interaction
ENSG00000179041	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10092687	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10095931	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10101457	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10104916	0.82[AFR][1000 genomes]
rs10113208	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11986216	0.91[AFR][1000 genomes]
rs11986805	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11993015	1.00[ASN][1000 genomes]
rs12334408	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16932514	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16932544	1.00[ASN][1000 genomes]
rs2357669	1.00[ASN][1000 genomes]
rs28364018	1.00[ASN][1000 genomes]
rs4366069	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4495409	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4496952	1.00[ASN][1000 genomes]
rs56409403	1.00[ASN][1000 genomes]
rs56981664	1.00[ASN][1000 genomes]
rs59142644	1.00[ASN][1000 genomes]
rs6472249	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6472251	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6472254	0.83[AFR][1000 genomes]
rs6988195	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6998761	0.85[AFR][1000 genomes]
rs7008359	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7008578	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73246516	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73246529	1.00[ASN][1000 genomes]
rs73246531	1.00[ASN][1000 genomes]
rs73246553	1.00[ASN][1000 genomes]
rs73691300	1.00[ASN][1000 genomes]
rs7818902	0.85[AFR][1000 genomes]
rs7822243	0.80[AFR][1000 genomes]
rs7830926	0.90[AFR][1000 genomes]
rs7834423	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7835948	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7838500	0.85[AFR][1000 genomes]
rs7842707	0.80[AFR][1000 genomes]
rs7843605	0.85[AFR][1000 genomes]
rs7845334	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9694082	0.82[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3446467	chr8:66749863-67667068	Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	esv3414665	chr8:66936816-67381935	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:67024400-67027000	Active TSS	iPS-20b Cell Line	embryonic stem cell
2	chr8:67024400-67027200	Active TSS	HUES64 Cell Line	embryonic stem cell
3	chr8:67024400-67028000	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr8:67024600-67025600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
5	chr8:67024600-67026000	Flanking Active TSS	Primary B cells from cord blood	blood
6	chr8:67024600-67026000	Bivalent/Poised TSS	HepG2	liver
7	chr8:67024600-67026800	Active TSS	Brain Anterior Caudate	brain
8	chr8:67024600-67027000	Active TSS	iPS-18 Cell Line	embryonic stem cell
9	chr8:67024600-67027000	Active TSS	Fetal Brain Male	brain
10	chr8:67024600-67027200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
11	chr8:67024600-67027200	Active TSS	H9 Cell Line	embryonic stem cell
12	chr8:67024600-67027200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
13	chr8:67024600-67027400	Active TSS	H1 Cell Line	embryonic stem cell
14	chr8:67024600-67027400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr8:67024600-67027400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr8:67024600-67027400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr8:67024600-67027400	Active TSS	iPS-15b Cell Line	embryonic stem cell
18	chr8:67024600-67027600	Active TSS	HUES6 Cell Line	embryonic stem cell
19	chr8:67024600-67027600	Active TSS	Fetal Brain Female	brain
20	chr8:67024800-67025600	Flanking Active TSS	Primary hematopoietic stem cells	blood
21	chr8:67024800-67026000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
22	chr8:67024800-67026000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
23	chr8:67024800-67027000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr8:67024800-67027200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr8:67024800-67027200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr8:67024800-67027200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr8:67024800-67027200	Active TSS	Aorta	Aorta
28	chr8:67024800-67027200	Active TSS	Brain Cingulate Gyrus	brain
29	chr8:67024800-67027200	Active TSS	Brain Substantia Nigra	brain
30	chr8:67024800-67027200	Active TSS	Pancreatic Islets	Pancreatic Islet
31	chr8:67024800-67027200	Active TSS	Fetal Stomach	stomach
32	chr8:67024800-67027200	Active TSS	Psoas Muscle	Psoas
33	chr8:67024800-67027200	Active TSS	Thymus	Thymus
34	chr8:67024800-67027400	Active TSS	HUES48 Cell Line	embryonic stem cell
35	chr8:67024800-67027400	Active TSS	Ovary	ovary
36	chr8:67024800-67027400	Active TSS	Right Atrium	heart
37	chr8:67024800-67027600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr8:67024800-67027600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
39	chr8:67024800-67027600	Active TSS	Duodenum Smooth Muscle	Duodenum
40	chr8:67024800-67027600	Active TSS	Fetal Lung	lung
41	chr8:67024800-67028000	Active TSS	Brain Inferior Temporal Lobe	brain
42	chr8:67024800-67028000	Active TSS	Fetal Kidney	kidney
43	chr8:67025000-67025600	Flanking Active TSS	HMEC	breast
44	chr8:67025000-67025800	Active TSS	Primary T regulatory cells fromperipheralblood	blood
45	chr8:67025000-67026200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
46	chr8:67025000-67026600	Active TSS	Primary T cells from cord blood	blood
47	chr8:67025000-67026800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr8:67025000-67027000	Active TSS	Fetal Heart	heart
49	chr8:67025000-67027000	Active TSS	Fetal Intestine Large	intestine
50	chr8:67025000-67027000	Active TSS	Fetal Intestine Small	intestine

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links