Variant report

Variant	rs7677751
Chromosome Location	chr4:55124460-55124461
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 80 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs10032688	0.81[MEX][hapmap]
rs11133315	0.84[ASN][1000 genomes]
rs12505491	0.88[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs12506290	0.82[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs12508225	0.84[ASN][1000 genomes]
rs12641563	0.88[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs12644709	0.88[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs12644749	0.84[ASN][1000 genomes]
rs1547904	0.81[MEX][hapmap]
rs1565669	0.84[ASN][1000 genomes]
rs1565670	0.84[ASN][1000 genomes]
rs17084051	0.95[ASN][1000 genomes]
rs1800809	0.95[ASN][1000 genomes]
rs1800810	0.94[ASN][1000 genomes]
rs1800812	0.83[CEU][hapmap];0.94[CHB][hapmap];0.91[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs1800813	0.95[ASN][1000 genomes]
rs2114039	0.81[GIH][hapmap]
rs2228230	0.81[MEX][hapmap]
rs2229307	0.88[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs2307049	0.88[CHB][hapmap];0.82[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs2307050	0.80[JPT][hapmap];0.95[MEX][hapmap]
rs28489067	0.83[ASN][1000 genomes]
rs28528897	0.84[ASN][1000 genomes]
rs28600756	0.84[ASN][1000 genomes]
rs3690	0.81[MEX][hapmap]
rs3733540	0.81[MEX][hapmap]
rs4358459	0.87[CHB][hapmap];0.86[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs4368668	0.94[ASN][1000 genomes]
rs4422471	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4608869	0.94[ASN][1000 genomes]
rs4635872	0.94[ASN][1000 genomes]
rs4864857	0.95[ASN][1000 genomes]
rs4864858	0.94[ASN][1000 genomes]
rs4864859	0.95[ASN][1000 genomes]
rs4864860	0.95[ASN][1000 genomes]
rs4864861	0.95[ASN][1000 genomes]
rs4864862	0.83[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs4864863	0.83[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs4864864	0.84[ASN][1000 genomes]
rs4864865	0.84[ASN][1000 genomes]
rs4864872	0.81[MEX][hapmap]
rs56145315	0.84[ASN][1000 genomes]
rs58435984	0.87[ASN][1000 genomes]
rs58727676	0.84[ASN][1000 genomes]
rs60806423	0.93[ASN][1000 genomes]
rs60863210	0.88[ASN][1000 genomes]
rs61320297	0.95[ASN][1000 genomes]
rs6554162	0.81[GIH][hapmap]
rs6554163	0.94[CHB][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap]
rs67279506	0.84[ASN][1000 genomes]
rs67432867	0.95[ASN][1000 genomes]
rs67600360	0.84[ASN][1000 genomes]
rs6836215	0.82[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs6850748	0.83[CEU][hapmap];0.89[CHB][hapmap];0.91[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs73252942	0.95[ASN][1000 genomes]
rs73252946	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73252948	0.84[ASN][1000 genomes]
rs7660560	0.88[CHB][hapmap];0.86[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs7673027	0.91[ASN][1000 genomes]
rs7673597	0.95[ASN][1000 genomes]
rs7673625	0.91[ASN][1000 genomes]
rs7673853	0.93[ASN][1000 genomes]
rs7673984	0.95[ASN][1000 genomes]
rs7678144	0.83[CEU][hapmap];0.94[CHB][hapmap];0.91[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs7679903	0.95[ASN][1000 genomes]
rs7681399	0.95[ASN][1000 genomes]
rs7682912	0.83[CEU][hapmap];0.88[GIH][hapmap];0.88[JPT][hapmap];0.84[ASN][1000 genomes]
rs7686588	0.88[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs7688997	0.88[CHB][hapmap];0.86[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs7689569	0.95[ASN][1000 genomes]
rs7690503	0.95[ASN][1000 genomes]
rs7691129	0.88[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs7698425	0.95[ASN][1000 genomes]
rs890203	0.95[ASN][1000 genomes]
rs9991165	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	nsv1011682	chr4:55103816-55128149	Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
4	nsv997422	chr4:55104743-55132489	Enhancers Strong transcription Genic enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv1008497	chr4:55115691-55128149	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Corneal astigmatism	22144915	GWAS catalog

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7677751	DCUN1D4	cis	cerebellum	SCAN

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:55105600-55124800	Weak transcription	Aorta	Aorta
2	chr4:55117200-55129600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr4:55118000-55129800	Weak transcription	Fetal Muscle Trunk	muscle
4	chr4:55119000-55127200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr4:55119000-55138600	Weak transcription	Fetal Intestine Small	intestine
6	chr4:55119400-55148000	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr4:55120400-55126800	Weak transcription	Fetal Stomach	stomach
8	chr4:55120600-55129600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr4:55120800-55125800	Weak transcription	Fetal Lung	lung
10	chr4:55121000-55147600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr4:55121000-55153200	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr4:55121200-55125000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr4:55121200-55125400	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr4:55121200-55130400	Weak transcription	Fetal Kidney	kidney
15	chr4:55121200-55133400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr4:55121200-55147200	Weak transcription	Rectal Smooth Muscle	rectum
17	chr4:55121600-55125000	Weak transcription	Osteobl	bone
18	chr4:55121600-55128600	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr4:55122200-55124800	Enhancers	Ovary	ovary
20	chr4:55122400-55125000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr4:55122400-55133400	Weak transcription	Fetal Muscle Leg	muscle
22	chr4:55122400-55142600	Strong transcription	Cortex derived primary cultured neurospheres	brain
23	chr4:55124000-55124800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr4:55124200-55124600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr4:55124400-55125000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr4:55124400-55125000	Weak transcription	NHDF-Ad	bronchial
27	chr4:55124400-55125200	Enhancers	NHLF	lung
28	chr4:55124400-55140400	Weak transcription	Placenta	Placenta
29	chr4:55124400-55147800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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