Variant report

Variant	rs2276290
Chromosome Location	chr11:76918497-76918498
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	REST	chr11:76918166-76918517	MCF-7	breast:	n/a	n/a
2	REST	chr11:76918174-76918561	PFSK-1	brain:	n/a	n/a
3	REST	chr11:76918163-76918585	ECC-1	luminal epithelium:	n/a	n/a
4	REST	chr11:76918224-76918498	PANC-1	pancreas:	n/a	n/a
5	CTCF	chr11:76918380-76918530	HBMEC	blood vessel:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:76914978..76918779-chr11:76919820..76922007,4	K562	blood:
2	chr11:76915784..76918545-chr11:76920057..76921659,2	MCF-7	breast:
3	chr11:76916874..76919387-chr11:76922444..76925141,2	K562	blood:

No data

Variant related genes	Relation type
MYO7A	TF binding region
ENSG00000137474	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10466706	0.85[JPT][hapmap]
rs10466707	0.85[JPT][hapmap]
rs10899362	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1109977	0.85[JPT][hapmap]
rs11237118	0.82[ASN][1000 genomes]
rs11237119	0.81[ASN][1000 genomes]
rs11237121	0.83[ASN][1000 genomes]
rs11237122	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12274072	0.83[EUR][1000 genomes]
rs12806868	0.81[ASN][1000 genomes]
rs1320702	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1320703	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2276288	0.82[ASN][1000 genomes]
rs2276291	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2276293	0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs2276294	0.82[ASN][1000 genomes]
rs3781689	0.81[ASN][1000 genomes]
rs3781690	0.81[ASN][1000 genomes]
rs3781691	0.85[JPT][hapmap];0.81[ASN][1000 genomes]
rs3819171	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4945157	0.81[ASN][1000 genomes]
rs4945158	0.81[ASN][1000 genomes]
rs4945159	0.86[JPT][hapmap];0.81[ASN][1000 genomes]
rs4945160	0.95[JPT][hapmap]
rs56251502	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7123925	0.83[JPT][hapmap];0.84[EUR][1000 genomes]
rs7927472	0.81[ASN][1000 genomes]
rs7932992	0.85[JPT][hapmap]
rs867508	0.86[JPT][hapmap]
rs868658	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs885440	0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs885441	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs885442	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs948958	0.86[JPT][hapmap]
rs948960	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs948961	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs948963	0.91[JPT][hapmap];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1816632	chr11:76751285-76927014	Enhancers Bivalent Enhancer Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv897936	chr11:76900813-76935002	Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Weak transcription Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv534515	chr11:76900813-77035769	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv1048360	chr11:76900813-77387933	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
5	nsv541089	chr11:76900813-77387933	Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
6	nsv1049603	chr11:76900813-77520411	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
7	nsv541090	chr11:76900813-77520411	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 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	chr11:76899800-76928200	Strong transcription	Liver	Liver
2	chr11:76903600-76928000	Weak transcription	Colonic Mucosa	Colon
3	chr11:76903600-76928600	Strong transcription	Fetal Intestine Small	intestine
4	chr11:76904200-76927600	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr11:76904600-76927800	Strong transcription	Fetal Intestine Large	intestine
6	chr11:76907000-76918800	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr11:76908400-76922400	Weak transcription	Gastric	stomach
8	chr11:76908400-76928200	Strong transcription	Spleen	Spleen
9	chr11:76913400-76918800	Weak transcription	Adipose Nuclei	Adipose
10	chr11:76914400-76924600	Weak transcription	Primary monocytes fromperipheralblood	blood
11	chr11:76916600-76922200	Weak transcription	Pancreas	Pancrea
12	chr11:76916800-76922400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr11:76917000-76921000	Strong transcription	Placenta	Placenta
14	chr11:76917600-76920000	Enhancers	Fetal Muscle Leg	muscle
15	chr11:76918200-76919800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
16	chr11:76918400-76918600	Enhancers	Ovary	ovary
17	chr11:76918400-76920000	Enhancers	Fetal Muscle Trunk	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links