Variant report

Variant	rs11679737
Chromosome Location	chr2:20310668-20310669
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SETDB1	chr2:20310160-20310778	U2OS	brain:	n/a	n/a
2	POLR2A	chr2:20308817-20310980	K562	blood:	n/a	n/a
3	ATF1	chr2:20310610-20310906	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr2:20301755..20305316-chr2:20309151..20312503,4	MCF-7	breast:
2	chr2:20309388..20317484-chr2:20420940..20426619,17	MCF-7	breast:
3	chr2:20307981..20311026-chr2:20439655..20442386,3	MCF-7	breast:
4	chr2:20308923..20310698-chr2:20430209..20431770,2	MCF-7	breast:
5	chr2:20310034..20311974-chr2:20398183..20400238,2	MCF-7	breast:
6	chr2:20309325..20314922-chr2:20379425..20384303,7	MCF-7	breast:
7	chr2:20309126..20310767-chr2:20432365..20434284,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000234378	TF binding region
ENSG00000115884	Chromatin interaction
ENSG00000235411	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10169811	0.86[CEU][hapmap];0.82[CHD][hapmap]
rs10171384	0.86[CEU][hapmap]
rs10195803	0.86[CEU][hapmap];0.82[CHD][hapmap]
rs10199614	0.86[CEU][hapmap]
rs10208355	0.81[CEU][hapmap]
rs1028054	0.86[CEU][hapmap];0.80[EUR][1000 genomes]
rs1028055	0.85[CEU][hapmap];0.82[CHD][hapmap];0.80[EUR][1000 genomes]
rs11096639	0.81[CEU][hapmap]
rs11673841	0.90[EUR][1000 genomes]
rs11674251	0.86[ASW][hapmap];1.00[LWK][hapmap]
rs11675411	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs11677683	0.82[AMR][1000 genomes]
rs11677734	0.85[CEU][hapmap];0.82[AMR][1000 genomes]
rs11682837	0.90[EUR][1000 genomes]
rs11685443	0.81[CEU][hapmap];0.83[CHB][hapmap];0.93[JPT][hapmap];0.91[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs11685788	0.85[CEU][hapmap]
rs11689431	0.86[ASW][hapmap]
rs11689490	0.90[CEU][hapmap];0.89[CHB][hapmap];0.92[CHD][hapmap];0.83[GIH][hapmap];0.93[JPT][hapmap];0.81[MEX][hapmap];0.89[TSI][hapmap];0.90[EUR][1000 genomes]
rs11690530	0.95[CEU][hapmap];1.00[CHB][hapmap];0.81[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11692546	0.95[CEU][hapmap];0.93[CHB][hapmap];0.93[JPT][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11694170	0.86[ASW][hapmap]
rs11900576	0.81[CEU][hapmap]
rs13005386	0.86[CEU][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs13391566	0.81[CEU][hapmap]
rs1513830	0.86[ASW][hapmap]
rs1513831	0.86[ASW][hapmap]
rs1554007	0.82[CHB][hapmap];0.93[JPT][hapmap];0.86[EUR][1000 genomes]
rs34367401	0.88[EUR][1000 genomes]
rs34481015	0.89[EUR][1000 genomes]
rs34694787	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs3731661	1.00[LWK][hapmap]
rs3731673	0.86[ASW][hapmap]
rs55971461	0.80[EUR][1000 genomes]
rs62112180	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs6531203	0.81[CEU][hapmap]
rs6531204	0.90[CEU][hapmap];0.88[CHB][hapmap];0.93[JPT][hapmap];0.93[EUR][1000 genomes]
rs6531205	0.90[CEU][hapmap];0.89[CHB][hapmap];0.93[JPT][hapmap];0.93[EUR][1000 genomes]
rs6531206	0.86[CEU][hapmap];0.80[EUR][1000 genomes]
rs6531207	0.86[CEU][hapmap]
rs6708655	0.90[CEU][hapmap];0.89[CHB][hapmap];0.93[JPT][hapmap];0.89[EUR][1000 genomes]
rs6709349	1.00[ASW][hapmap];0.90[CEU][hapmap];0.83[CHB][hapmap];0.90[CHD][hapmap];0.87[GIH][hapmap];0.93[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.89[TSI][hapmap];1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6734005	1.00[LWK][hapmap]
rs6749952	0.82[EUR][1000 genomes]
rs7556745	0.87[CEU][hapmap]
rs7558628	0.86[CEU][hapmap];0.80[EUR][1000 genomes]
rs7561381	0.81[CEU][hapmap]
rs7572608	0.86[CEU][hapmap];0.80[EUR][1000 genomes]
rs7582437	0.81[CEU][hapmap]
rs7583420	0.86[CEU][hapmap];0.80[EUR][1000 genomes]
rs7609013	0.86[CEU][hapmap]
rs878983	1.00[ASW][hapmap];0.85[CEU][hapmap];0.83[CHB][hapmap];0.90[CHD][hapmap];0.83[GIH][hapmap];0.93[JPT][hapmap];1.00[MEX][hapmap];0.89[TSI][hapmap];0.91[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs907864	0.81[CEU][hapmap]

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	nsv1009521	chr2:20310479-20388959	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:20306600-20318400	Enhancers	Placenta	Placenta
2	chr2:20306800-20311200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr2:20306800-20318200	Weak transcription	Right Ventricle	heart
4	chr2:20307000-20311200	Weak transcription	Esophagus	oesophagus
5	chr2:20307000-20311200	Weak transcription	Pancreas	Pancrea
6	chr2:20308000-20322200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr2:20308600-20311200	Enhancers	Fetal Intestine Large	intestine
8	chr2:20308800-20313000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr2:20309000-20311000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr2:20309000-20313200	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr2:20309000-20315400	Weak transcription	Hela-S3	cervix
12	chr2:20309200-20310800	Weak transcription	Stomach Mucosa	stomach
13	chr2:20309200-20311200	Weak transcription	Colonic Mucosa	Colon
14	chr2:20309400-20311000	Weak transcription	A549	lung
15	chr2:20310000-20313400	Weak transcription	NHEK	skin
16	chr2:20310200-20313400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr2:20310200-20313400	Weak transcription	HMEC	breast
18	chr2:20310400-20312000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr2:20310600-20310800	Enhancers	K562	blood
20	chr2:20310600-20311000	Enhancers	Rectal Mucosa Donor 31	rectum
21	chr2:20310600-20311400	Enhancers	Fetal Intestine Small	intestine
22	chr2:20310600-20311600	Enhancers	Duodenum Mucosa	Duodenum
23	chr2:20310600-20311600	Enhancers	Fetal Muscle Leg	muscle
24	chr2:20310600-20312000	Flanking Active TSS	HepG2	liver
25	chr2:20310600-20314000	Weak transcription	Gastric	stomach

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