Variant report

Variant	rs10931047
Chromosome Location	chr2:183734931-183734932
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:21)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:21 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RAD21	chr2:183734890-183735381	ECC-1	luminal epithelium:	n/a	n/a
2	RAD21	chr2:183734837-183735308	H1-hESC	embryonic stem cell:	n/a	n/a
3	RAD21	chr2:183734921-183735280	HepG2	liver:	n/a	n/a
4	CTCF	chr2:183734920-183735070	HCM	heart:	n/a	n/a
5	CTCF	chr2:183734918-183735300	H1-hESC	embryonic stem cell:	n/a	n/a
6	CTCF	chr2:183734920-183735350	K562	blood:	n/a	n/a
7	CTCF	chr2:183734753-183735428	SK-N-SH	brain:	n/a	n/a
8	CTCF	chr2:183734927-183735315	K562	blood:	n/a	n/a
9	RAD21	chr2:183734860-183735406	HCT-116	colon:	n/a	n/a
10	RAD21	chr2:183734903-183735429	SK-N-SH	brain:	n/a	n/a
11	RAD21	chr2:183734922-183735370	MCF-7	breast:	n/a	n/a
12	RAD21	chr2:183734928-183735290	HepG2	liver:	n/a	n/a
13	CTCF	chr2:183734800-183734950	NHEK	skin:	n/a	n/a
14	RAD21	chr2:183734892-183735336	H1-hESC	embryonic stem cell:	n/a	n/a
15	CTCF	chr2:183734910-183735340	HepG2	liver:	n/a	n/a
16	RAD21	chr2:183734907-183735326	H1-hESC	embryonic stem cell:	n/a	n/a
17	CTCF	chr2:183734918-183735414	MCF-7	breast:	n/a	n/a
18	CTCF	chr2:183734817-183735330	A549	lung:	n/a	n/a
19	CTCF	chr2:183734926-183735355	MCF-7	breast:	n/a	n/a
20	CTCF	chr2:183734879-183735296	K562	blood:	n/a	n/a
21	RAD21	chr2:183734898-183735272	HCT-116	colon:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:183649264..183650285-chr2:183734657..183735584,4	MCF-7	breast:

No data

Variant related genes	Relation type
FRZB	TF binding region
RNU6-1122P	TF binding region

Extended variants
information (count: 26 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10167133	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10179513	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10931050	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs288246	1.00[ASN][1000 genomes]
rs4292059	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs4363993	1.00[EUR][1000 genomes]
rs4666596	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4666866	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6433995	1.00[EUR][1000 genomes]
rs6720785	1.00[EUR][1000 genomes]
rs73040077	1.00[EUR][1000 genomes]
rs73040084	1.00[EUR][1000 genomes]
rs73040087	1.00[EUR][1000 genomes]
rs73040097	1.00[EUR][1000 genomes]
rs73040099	1.00[EUR][1000 genomes]
rs73042127	1.00[EUR][1000 genomes]
rs7592832	1.00[EUR][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	nsv1009882	chr2:183213152-184171519	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	esv2757842	chr2:183437700-183835084	Strong transcription Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	esv2759104	chr2:183437700-183835084	Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	esv2756954	chr2:183528670-183764930	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	esv34847	chr2:183537399-183786763	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv1006265	chr2:183666013-183777604	Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
7	nsv536071	chr2:183666013-183777604	Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
8	nsv818096	chr2:183701588-183827018	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
9	nsv875484	chr2:183702964-183747442	Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:183732400-183746000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:183734800-183735000	Enhancers	Fetal Thymus	thymus

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