Variant report

Variant	rs7676985
Chromosome Location	chr4:55064573-55064574
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs11133315	0.82[ASN][1000 genomes]
rs12501481	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12503971	0.85[EUR][1000 genomes]
rs1800812	0.84[CEU][hapmap];1.00[GIH][hapmap];0.96[MEX][hapmap];0.93[TSI][hapmap]
rs1800813	0.81[AMR][1000 genomes]
rs2114039	0.92[GIH][hapmap];0.87[MEX][hapmap]
rs2162136	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2307049	0.80[GIH][hapmap];0.80[MEX][hapmap]
rs2412539	0.84[EUR][1000 genomes]
rs3923892	0.84[EUR][1000 genomes]
rs4358459	0.80[GIH][hapmap];0.80[MEX][hapmap]
rs4864862	0.84[CEU][hapmap]
rs4864863	0.84[CEU][hapmap]
rs55702239	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6554157	0.82[EUR][1000 genomes]
rs6554158	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6554160	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6554162	0.92[GIH][hapmap];0.92[MEX][hapmap]
rs6554163	0.94[GIH][hapmap]
rs6831380	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6832597	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6836215	0.84[CEU][hapmap]
rs6846502	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6850748	0.84[CEU][hapmap];1.00[GIH][hapmap];0.96[MEX][hapmap];0.93[TSI][hapmap]
rs7375653	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7660560	0.80[GIH][hapmap];0.80[MEX][hapmap]
rs7673984	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs7676972	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7677751	0.88[GIH][hapmap]
rs7678144	0.84[CEU][hapmap];1.00[GIH][hapmap];0.92[MEX][hapmap];0.93[TSI][hapmap]
rs7682912	0.84[CEU][hapmap];0.95[CHB][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];0.88[JPT][hapmap];0.96[MEX][hapmap];0.97[TSI][hapmap];0.82[ASN][1000 genomes]
rs7688997	0.80[GIH][hapmap];0.80[MEX][hapmap]
rs7691291	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs890204	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs890205	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[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	nsv1003167	chr4:54732051-55081905	Enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv537096	chr4:54732051-55081905	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv879020	chr4:54986912-55064573	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	nsv537097	chr4:55042698-55076041	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	n/a	n/a	inside rSNPs	diseases
5	nsv1008793	chr4:55060925-55535807	Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking 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	8 gene(s)	inside rSNPs	diseases
6	nsv537098	chr4:55060925-55535807	Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:55061200-55064600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr4:55062800-55065200	Enhancers	Fetal Stomach	stomach
3	chr4:55063200-55064600	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr4:55063200-55064800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr4:55063200-55064800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr4:55063200-55064800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr4:55063200-55064800	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr4:55063200-55064800	Enhancers	Colon Smooth Muscle	Colon
9	chr4:55063200-55064800	Enhancers	Fetal Muscle Leg	muscle
10	chr4:55063200-55064800	Enhancers	Right Atrium	heart
11	chr4:55063200-55064800	Enhancers	HSMM	muscle
12	chr4:55063200-55065000	Enhancers	HSMMtube	muscle
13	chr4:55063200-55065200	Enhancers	Rectal Smooth Muscle	rectum
14	chr4:55063400-55064600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr4:55063800-55064800	Enhancers	Duodenum Smooth Muscle	Duodenum
16	chr4:55064000-55064800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr4:55064000-55064800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr4:55064400-55064800	Enhancers	Stomach Smooth Muscle	stomach

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