Variant report

Variant	rs11687782
Chromosome Location	chr2:113841782-113841783
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:17)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	USF1	chr2:113841725-113842190	HCT-116	colon:	n/a	n/a
2	CTCF	chr2:113841682-113842424	HCT-116	colon:	n/a	n/a
3	RAD21	chr2:113841739-113842373	HepG2	liver:	n/a	n/a
4	RAD21	chr2:113841778-113842309	MCF-7	breast:	n/a	n/a
5	RAD21	chr2:113841741-113842310	HCT-116	colon:	n/a	n/a
6	CTCF	chr2:113841755-113842249	HCT-116	colon:	n/a	n/a
7	MYC	chr2:113841773-113842206	MCF10A-Er-Src	breast:	n/a	n/a
8	RAD21	chr2:113841709-113842328	HCT-116	colon:	n/a	n/a
9	RAD21	chr2:113841752-113842280	A549	lung:	n/a	n/a
10	CBX3	chr2:113841780-113842272	HCT-116	colon:	n/a	n/a
11	CTCF	chr2:113841740-113841890	GM12869	blood:	n/a	n/a
12	MAX	chr2:113841664-113842249	HCT-116	colon:	n/a	n/a
13	MAX	chr2:113841713-113842204	MCF-7	breast:	n/a	n/a
14	CTCF	chr2:113841250-113842446	A549	lung:	n/a	n/a
15	CTCF	chr2:113841740-113842240	MCF-7	breast:	n/a	n/a
16	CTCF	chr2:113841749-113842236	SK-N-SH	brain:	n/a	n/a
17	CTCF	chr2:113841732-113842286	MCF-7	breast:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:113840278..113841811-chr2:113847020..113849083,2	K562	blood:
2	chr2:113834467..113836706-chr2:113841489..113843964,2	MCF-7	breast:
3	chr2:113840365..113842107-chr2:113890479..113892989,2	MCF-7	breast:
4	chr2:113840473..113842575-chr2:113882514..113884830,2	MCF-7	breast:
5	chr2:113840604..113842115-chr2:113843174..113845209,2	K562	blood:
6	chr2:113840523..113843293-chr2:113890844..113893174,3	MCF-7	breast:
7	chr2:113841554..113842111-chr2:113896078..113896943,2	MCF-7	breast:

No data

Variant related genes	Relation type
RNU6-1180P	TF binding region
ENSG00000201805	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10185781	0.89[JPT][hapmap]
rs10207930	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11123159	0.89[JPT][hapmap]
rs11123161	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11123162	0.80[JPT][hapmap]
rs11681884	0.89[JPT][hapmap]
rs11684719	0.89[JPT][hapmap]
rs11886754	0.89[JPT][hapmap]
rs11891198	0.89[JPT][hapmap]
rs11893386	0.89[JPT][hapmap]
rs11899198	0.89[JPT][hapmap]
rs13394316	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13406085	0.89[JPT][hapmap]
rs1542176	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17042810	0.89[JPT][hapmap]
rs17042853	0.89[JPT][hapmap]
rs17042888	0.89[JPT][hapmap]
rs2029582	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4368340	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4575729	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4849153	0.81[JPT][hapmap]
rs56341434	0.91[ASN][1000 genomes]
rs58965312	0.91[ASN][1000 genomes]
rs6728590	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6731551	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6738377	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7561598	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7575402	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532471	chr2:113682449-113862981	ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv997348	chr2:113688093-113986508	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv1007254	chr2:113726982-113887782	Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv535894	chr2:113726982-113887782	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
5	nsv2881	chr2:113800805-113846597	Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
6	nsv511806	chr2:113841061-113844598	Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113838200-113842200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:113838200-113842200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr2:113838200-113842200	Weak transcription	Stomach Mucosa	stomach
4	chr2:113838600-113842000	Weak transcription	NHEK	skin
5	chr2:113838800-113842000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr2:113839400-113843600	Weak transcription	Esophagus	oesophagus
7	chr2:113839600-113842200	Weak transcription	HMEC	breast
8	chr2:113840000-113842200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr2:113840600-113842000	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr2:113840800-113842400	Enhancers	Monocytes-CD14+_RO01746	blood
11	chr2:113841400-113847400	Weak transcription	Primary neutrophils fromperipheralblood	blood

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