Variant report

Variant	rs11989021
Chromosome Location	chr8:96515911-96515912
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	CTCF	chr8:96515780-96515930	AG04450	lung:	n/a	chr8:96515820-96515833
2	CTCF	chr8:96515880-96516030	HCM	heart:	n/a	n/a
3	CTCF	chr8:96515780-96515930	HRE	kidney:	n/a	chr8:96515820-96515833
4	RAD21	chr8:96515664-96515973	Hela-S3	cervix:	n/a	chr8:96515798-96515810
5	RAD21	chr8:96515607-96516104	MCF-7	breast:	n/a	chr8:96515798-96515810
6	SMC3	chr8:96515691-96515939	Hela-S3	cervix:	n/a	chr8:96515819-96515833
7	CTCF	chr8:96515694-96515929	HUVEC	blood vessel:	n/a	chr8:96515820-96515833
8	CTCF	chr8:96515707-96515921	ProgFib	skin:	n/a	chr8:96515820-96515833
9	CTCF	chr8:96515718-96515957	GM12878	blood:	n/a	chr8:96515820-96515833
10	CTCF	chr8:96515568-96516050	HCT-116	colon:	n/a	chr8:96515820-96515833
11	RAD21	chr8:96515713-96515918	SK-N-SH_RA	brain:	n/a	chr8:96515798-96515810
12	RAD21	chr8:96515540-96516118	H1-hESC	embryonic stem cell:	n/a	chr8:96515798-96515810
13	CTCF	chr8:96515780-96515930	HCM	heart:	n/a	chr8:96515820-96515833
14	CTCF	chr8:96515743-96515921	Pancreas_OC	pancreas:	n/a	chr8:96515820-96515833
15	CTCF	chr8:96515744-96515914	LNCaP	prostate:	n/a	chr8:96515820-96515833
16	RAD21	chr8:96515658-96516044	IMR90	lung:	n/a	chr8:96515798-96515810
17	CTCF	chr8:96515761-96515915	MCF-7	breast:	n/a	chr8:96515820-96515833
18	CTCF	chr8:96515780-96515930	RPTEC	kidney:	n/a	chr8:96515820-96515833
19	RAD21	chr8:96515619-96516038	H1-hESC	embryonic stem cell:	n/a	chr8:96515798-96515810
20	CTCF	chr8:96515553-96516093	MCF-7	breast:	n/a	chr8:96515820-96515833
21	RAD21	chr8:96515606-96516052	H1-hESC	embryonic stem cell:	n/a	chr8:96515798-96515810
22	RAD21	chr8:96515765-96515992	HepG2	liver:	n/a	chr8:96515798-96515810
23	CTCF	chr8:96515632-96516039	IMR90	lung:	n/a	chr8:96515820-96515833
24	CTCF	chr8:96515587-96516098	MCF-7	breast:	n/a	chr8:96515820-96515833
25	RAD21	chr8:96515631-96516141	HCT-116	colon:	n/a	chr8:96515798-96515810
26	RAD21	chr8:96515568-96516003	MCF-7	breast:	n/a	chr8:96515798-96515810
27	CTCF	chr8:96515719-96515925	MCF-7	breast:	n/a	chr8:96515820-96515833
28	CTCF	chr8:96515695-96515954	Gliobla	brain:	n/a	chr8:96515820-96515833
29	CTCF	chr8:96515653-96515968	H1-hESC	embryonic stem cell:	n/a	chr8:96515820-96515833
30	CTCF	chr8:96515692-96515957	K562	blood:	n/a	chr8:96515820-96515833
31	CTCF	chr8:96515800-96515950	NB4	blood:	n/a	chr8:96515820-96515833
32	CTCF	chr8:96515780-96515930	GM06990	blood:	n/a	chr8:96515820-96515833
33	CTCF	chr8:96515688-96515932	H1-hESC	embryonic stem cell:	n/a	chr8:96515820-96515833
34	RAD21	chr8:96515630-96516089	HCT-116	colon:	n/a	chr8:96515798-96515810
35	RAD21	chr8:96515628-96515933	ECC-1	luminal epithelium:	n/a	chr8:96515798-96515810
36	CTCF	chr8:96515723-96515934	Fibrobl	skin:	n/a	chr8:96515820-96515833
37	CTCF	chr8:96515780-96515930	HAc	cerebellar:	n/a	chr8:96515820-96515833

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:96515360..96516198-chr8:96770656..96771587,2	MCF-7	breast:
2	chr13:83085927..83086427-chr8:96515336..96516158,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000253872	TF binding region

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs55856934	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62522912	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72666198	1.00[ASN][1000 genomes]
rs72667908	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026549	chr8:96367183-96573134	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv539681	chr8:96367183-96573134	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv1030659	chr8:96380353-97142611	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv611760	chr8:96428448-96607028	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv428823	chr8:96447739-96598307	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv465743	chr8:96472423-96518204	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv611762	chr8:96472423-96518204	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	esv1798999	chr8:96498811-96518612	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	esv1793606	chr8:96500286-96518673	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:96515400-96516000	Enhancers	Colon Smooth Muscle	Colon
2	chr8:96515400-96516200	Enhancers	Muscle Satellite Cultured Cells	--
3	chr8:96515400-96516200	Enhancers	HSMM	muscle
4	chr8:96515600-96516000	Enhancers	Stomach Smooth Muscle	stomach
5	chr8:96515600-96516200	Enhancers	Fetal Stomach	stomach
6	chr8:96515600-96516400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr8:96515800-96516000	Enhancers	HUVEC	blood vessel
8	chr8:96515800-96516200	Active TSS	Brain Inferior Temporal Lobe	brain
9	chr8:96515800-96516200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
10	chr8:96515800-96516200	Enhancers	Ovary	ovary
11	chr8:96515800-96516200	Flanking Active TSS	HSMMtube	muscle
12	chr8:96515800-96516400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr8:96515800-96516400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr8:96515800-96516400	Active TSS	Brain Anterior Caudate	brain
15	chr8:96515800-96516400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr8:96515800-96516400	Enhancers	Fetal Lung	lung
17	chr8:96515800-96516400	Flanking Active TSS	Osteobl	bone

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