Variant report

Variant	rs7931369
Chromosome Location	chr11:71278461-71278462
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Variant related genes	Relation type
ENSG00000248903	TF binding region
ENSG00000254682	Chromatin interaction
ENSG00000172893	Chromatin interaction
ENSG00000172890	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10736764	0.88[CEU][hapmap];0.85[JPT][hapmap]
rs10792783	0.90[CHB][hapmap]
rs10898280	0.85[CEU][hapmap];0.85[JPT][hapmap]
rs11234196	0.92[CEU][hapmap];0.89[CHB][hapmap];0.95[JPT][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2664	0.92[CEU][hapmap];0.90[JPT][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs36164574	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6592210	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7106362	0.93[CEU][hapmap];0.90[CHB][hapmap];0.90[JPT][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7120471	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71473841	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7930212	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7930916	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7933199	0.89[CEU][hapmap];0.85[JPT][hapmap]
rs7934055	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7940512	0.89[CEU][hapmap];0.85[JPT][hapmap]
rs9651750	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9651752	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9651753	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9651754	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[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	nsv530623	chr11:71088949-72020418	Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	134 gene(s)	inside rSNPs	diseases
2	nsv468632	chr11:71200320-71289089	Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv555402	chr11:71200320-71289089	Strong transcription Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	esv3372246	chr11:71223101-71435819	Strong transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv825988	chr11:71277262-71294289	ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv975200	chr11:71277624-71280675	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:71277000-71279200	Enhancers	HUES6 Cell Line	embryonic stem cell
2	chr11:71277200-71280400	Enhancers	Adipose Nuclei	Adipose
3	chr11:71277400-71279800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr11:71277600-71279000	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr11:71277600-71279000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr11:71277600-71279800	Weak transcription	Left Ventricle	heart
7	chr11:71277600-71280400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr11:71277600-71281600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr11:71277600-71282800	Weak transcription	Fetal Intestine Small	intestine
10	chr11:71277600-71290400	Weak transcription	Right Atrium	heart
11	chr11:71277800-71278800	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr11:71278000-71278800	Enhancers	HepG2	liver
13	chr11:71278000-71279800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr11:71278200-71278800	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr11:71278200-71281600	Weak transcription	Spleen	Spleen
16	chr11:71278400-71279800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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