Variant report

Variant	rs6982884
Chromosome Location	chr8:130694527-130694528
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	TCF12	chr8:130693948-130694815	A549	lung:	n/a	chr8:130694222-130694232
2	CTCF	chr8:130694380-130694530	GM12878	blood:	n/a	chr8:130694449-130694467 chr8:130694444-130694465
3	SP1	chr8:130693954-130694794	A549	lung:	n/a	chr8:130694293-130694300
4	CHD2	chr8:130694220-130694596	H1-hESC	embryonic stem cell:	n/a	n/a
5	CTCF	chr8:130694197-130694629	H1-hESC	embryonic stem cell:	n/a	chr8:130694449-130694467 chr8:130694444-130694465
6	CTCF	chr8:130694380-130694530	HBMEC	blood vessel:	n/a	chr8:130694449-130694467 chr8:130694444-130694465
7	RAD21	chr8:130694224-130694605	K562	blood:	n/a	chr8:130694447-130694466
8	RAD21	chr8:130694165-130694790	Hela-S3	cervix:	n/a	chr8:130694447-130694466
9	FOXP2	chr8:130694094-130694634	SK-N-MC	brain:	n/a	n/a
10	FOXA1	chr8:130694330-130694566	T-47D	breast:	n/a	n/a
11	CTCF	chr8:130694336-130694554	NHEK	skin:	n/a	chr8:130694449-130694467 chr8:130694444-130694465
12	MXI1	chr8:130694216-130694626	H1-hESC	embryonic stem cell:	n/a	n/a
13	MAFK	chr8:130694194-130694582	K562	blood:	n/a	n/a
14	CTCF	chr8:130694420-130694570	NHDF-neo	bronchial:	n/a	chr8:130694449-130694467 chr8:130694444-130694465
15	CTCF	chr8:130694380-130694530	HPF	lung:	n/a	chr8:130694449-130694467 chr8:130694444-130694465
16	CTCF	chr8:130694400-130694550	GM06990	blood:	n/a	chr8:130694449-130694467 chr8:130694444-130694465
17	YY1	chr8:130694243-130694656	GM12878	blood:	n/a	n/a
18	CTCF	chr8:130694269-130694628	K562	blood:	n/a	chr8:130694449-130694467 chr8:130694444-130694465
19	CTCF	chr8:130694122-130694672	IMR90	lung:	n/a	chr8:130694449-130694467 chr8:130694444-130694465
20	USF2	chr8:130694189-130694531	Hela-S3	cervix:	n/a	n/a
21	CTCF	chr8:130694400-130694550	GM12869	blood:	n/a	chr8:130694449-130694467 chr8:130694444-130694465
22	RAD21	chr8:130694228-130694635	K562	blood:	n/a	chr8:130694447-130694466
23	YY1	chr8:130694376-130694635	K562	blood:	n/a	n/a
24	CEBPB	chr8:130694312-130694671	K562	blood:	n/a	n/a
25	RAD21	chr8:130694168-130694655	SK-N-SH_RA	brain:	n/a	chr8:130694447-130694466
26	ZNF384	chr8:130694299-130694701	K562	blood:	n/a	n/a
27	TBP	chr8:130694226-130694612	K562	blood:	n/a	n/a
28	CTCF	chr8:130694370-130694536	GM20000	blood:	n/a	chr8:130694449-130694467 chr8:130694444-130694465
29	POLR2A	chr8:130694026-130694665	SK-N-MC	brain:	n/a	n/a
30	TBP	chr8:130694100-130694582	H1-hESC	embryonic stem cell:	n/a	n/a
31	CTCF	chr8:130694393-130694545	GM13976	blood:	n/a	chr8:130694449-130694467 chr8:130694444-130694465
32	CTCF	chr8:130694380-130694530	WI-38	lung:	n/a	chr8:130694449-130694467 chr8:130694444-130694465
33	TAF1	chr8:130694238-130694609	SK-N-SH	brain:	n/a	n/a
34	POLR2A	chr8:130694330-130694583	SK-N-SH	brain:	n/a	n/a
35	CTCF	chr8:130694357-130694547	Fibrobl	skin:	n/a	chr8:130694449-130694467 chr8:130694444-130694465
36	RAD21	chr8:130694016-130694895	A549	lung:	n/a	chr8:130694447-130694466
37	CTCF	chr8:130694400-130694550	HBMEC	blood vessel:	n/a	chr8:130694449-130694467 chr8:130694444-130694465
38	ATF3	chr8:130694100-130694706	A549	lung:	n/a	n/a
39	POLR2A	chr8:130694189-130694764	HUVEC	blood vessel:	n/a	n/a
40	CTCF	chr8:130694326-130694594	Kidney_OC	kidney:	n/a	chr8:130694449-130694467 chr8:130694444-130694465
41	RAD21	chr8:130694064-130694661	IMR90	lung:	n/a	chr8:130694447-130694466
42	CTCF	chr8:130694400-130694550	AG09309	skin:	n/a	chr8:130694449-130694467 chr8:130694444-130694465
43	CTCF	chr8:130694380-130694530	HRPEpiC	eye:	n/a	chr8:130694449-130694467 chr8:130694444-130694465
44	FOSL2	chr8:130694223-130694627	A549	lung:	n/a	n/a
45	PBX3	chr8:130694006-130694687	SK-N-SH	brain:	n/a	n/a
46	EP300	chr8:130694212-130694629	SK-N-SH_RA	brain:	n/a	chr8:130694326-130694342
47	POLR2A	chr8:130694199-130694666	H1-neurons	neurons:	n/a	n/a
48	CTCF	chr8:130694165-130694726	K562	blood:	n/a	chr8:130694449-130694467 chr8:130694444-130694465
49	RAD21	chr8:130694153-130694719	HepG2	liver:	n/a	chr8:130694447-130694466
50	POLR2A	chr8:130694243-130694619	HCT-116	colon:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:130694163..130694944-chr8:130737903..130739156,3	MCF-7	breast:
2	chr8:128747230..128750854-chr8:130693874..130696139,3	K562	blood:
3	chr8:130692959..130695780-chr8:130701945..130704433,2	K562	blood:
4	chr8:130551039..130551980-chr8:130694084..130694624,2	MCF-7	breast:
5	chr8:127881390..127882102-chr8:130693928..130694709,3	K562	blood:

Variant related genes	Relation type
CCDC26	TF binding region
ENSG00000136997	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10105319	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10808582	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12678857	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4517086	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4733551	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4733552	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4733555	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4733719	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4733721	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6470746	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6470751	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6470758	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6991719	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7018091	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7821868	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7837970	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7838685	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891446	chr8:130656205-130710638	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:130689400-130697400	Weak transcription	HMEC	breast
2	chr8:130691200-130694800	Enhancers	NHDF-Ad	bronchial
3	chr8:130691800-130695800	Weak transcription	Spleen	Spleen
4	chr8:130691800-130697200	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr8:130691800-130697800	Weak transcription	Lung	lung
6	chr8:130692400-130694800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr8:130692400-130698000	Weak transcription	Psoas Muscle	Psoas
8	chr8:130692600-130697000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr8:130692600-130698000	Weak transcription	Right Ventricle	heart
10	chr8:130693400-130694800	Enhancers	Primary hematopoietic stem cells	blood
11	chr8:130693400-130695000	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr8:130693600-130695200	Enhancers	Fetal Thymus	thymus
13	chr8:130693800-130694600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr8:130693800-130694800	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr8:130693800-130695000	Enhancers	Fetal Muscle Leg	muscle
16	chr8:130693800-130695400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr8:130693800-130695800	Enhancers	Primary neutrophils fromperipheralblood	blood
18	chr8:130693800-130696000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr8:130693800-130696600	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr8:130694000-130694600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr8:130694000-130694600	Enhancers	Brain Hippocampus Middle	brain
22	chr8:130694000-130694600	Enhancers	Fetal Stomach	stomach
23	chr8:130694000-130694800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr8:130694000-130694800	Enhancers	Fetal Heart	heart
25	chr8:130694000-130695000	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr8:130694000-130695000	Enhancers	HUVEC	blood vessel
27	chr8:130694200-130694600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr8:130694200-130694800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr8:130694200-130694800	Flanking Active TSS	K562	blood
30	chr8:130694200-130694800	Enhancers	NH-A	brain
31	chr8:130694200-130695000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr8:130694200-130696000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr8:130694200-130697400	Weak transcription	HSMM	muscle
34	chr8:130694200-130697400	Weak transcription	HSMMtube	muscle
35	chr8:130694400-130695000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr8:130694400-130695200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr8:130694400-130695400	Weak transcription	Fetal Muscle Trunk	muscle
38	chr8:130694400-130695600	Enhancers	Monocytes-CD14+_RO01746	blood
39	chr8:130694400-130696800	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr8:130694400-130697000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr8:130694400-130697000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr8:130694400-130697000	Weak transcription	Fetal Lung	lung
43	chr8:130694400-130697000	Weak transcription	Rectal Smooth Muscle	rectum
44	chr8:130694400-130697000	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr8:130694400-130697000	Weak transcription	NHLF	lung
46	chr8:130694400-130697200	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr8:130694400-130697200	Weak transcription	Stomach Smooth Muscle	stomach
48	chr8:130694400-130697200	Weak transcription	Osteobl	bone
49	chr8:130694400-130697400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr8:130694400-130697400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links