Variant report

Variant	rs6894403
Chromosome Location	chr5:42689895-42689896
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 75 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10041108	1.00[ASN][1000 genomes]
rs10041932	0.87[CEU][hapmap];0.84[EUR][1000 genomes]
rs10044117	0.86[EUR][1000 genomes]
rs10069861	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10440649	1.00[ASN][1000 genomes]
rs10941582	1.00[ASN][1000 genomes]
rs10941588	1.00[ASN][1000 genomes]
rs1109882	1.00[ASN][1000 genomes]
rs11948120	1.00[ASN][1000 genomes]
rs11948463	0.85[CEU][hapmap];0.84[EUR][1000 genomes]
rs11957404	1.00[ASN][1000 genomes]
rs12514437	1.00[ASN][1000 genomes]
rs13163126	1.00[ASN][1000 genomes]
rs13168440	0.93[CEU][hapmap];0.87[EUR][1000 genomes]
rs13171019	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13175765	1.00[ASN][1000 genomes]
rs13182117	1.00[ASN][1000 genomes]
rs13354167	1.00[ASN][1000 genomes]
rs28919899	0.89[EUR][1000 genomes]
rs34159518	1.00[ASN][1000 genomes]
rs34343411	0.83[EUR][1000 genomes]
rs35164552	1.00[ASN][1000 genomes]
rs35893798	1.00[ASN][1000 genomes]
rs4242122	1.00[ASN][1000 genomes]
rs4242123	1.00[ASN][1000 genomes]
rs4242124	1.00[ASN][1000 genomes]
rs4355531	0.82[EUR][1000 genomes]
rs4413537	0.85[CEU][hapmap];0.86[EUR][1000 genomes]
rs4419597	0.87[CEU][hapmap];0.87[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs4451056	0.93[CEU][hapmap];0.87[EUR][1000 genomes]
rs4523007	0.82[EUR][1000 genomes]
rs4594864	0.82[EUR][1000 genomes]
rs4637559	0.81[CEU][hapmap]
rs4866792	0.93[CEU][hapmap];0.85[EUR][1000 genomes]
rs4866793	1.00[ASN][1000 genomes]
rs4866943	0.90[EUR][1000 genomes]
rs4866955	1.00[ASN][1000 genomes]
rs4866956	1.00[ASN][1000 genomes]
rs4866957	1.00[ASN][1000 genomes]
rs4994772	0.93[CEU][hapmap];0.85[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs5025611	0.93[CEU][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6414898	1.00[ASN][1000 genomes]
rs6451632	0.93[CEU][hapmap];0.89[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs6451633	0.93[CEU][hapmap];0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6451634	0.93[CEU][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6451635	0.89[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs6451641	1.00[ASN][1000 genomes]
rs6451643	1.00[ASN][1000 genomes]
rs6871947	1.00[ASN][1000 genomes]
rs6873340	0.82[CEU][hapmap];1.00[ASN][1000 genomes]
rs6873794	0.93[CEU][hapmap];0.90[EUR][1000 genomes]
rs6878461	0.93[CEU][hapmap];0.90[EUR][1000 genomes]
rs6878512	0.85[CEU][hapmap];0.87[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs7442690	0.93[CEU][hapmap];0.82[EUR][1000 genomes]
rs7444761	1.00[ASN][1000 genomes]
rs7447731	0.93[CEU][hapmap];0.85[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs7702524	1.00[ASN][1000 genomes]
rs7709370	1.00[ASN][1000 genomes]
rs7721081	0.93[CEU][hapmap];0.87[EUR][1000 genomes]
rs7722558	0.85[CEU][hapmap];0.86[EUR][1000 genomes]
rs9292854	1.00[ASN][1000 genomes]
rs9292855	0.86[EUR][1000 genomes]
rs9292856	0.92[CEU][hapmap];0.86[EUR][1000 genomes]
rs9717120	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933208	chr5:41879946-42876624	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	112 gene(s)	inside rSNPs	diseases
2	nsv492147	chr5:41902086-42896162	Enhancers Flanking Active TSS Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	113 gene(s)	inside rSNPs	diseases
3	nsv1020464	chr5:42488628-42699394	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1018751	chr5:42491883-42697923	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv1031160	chr5:42610090-42843255	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv1019696	chr5:42610090-42844191	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv597886	chr5:42610409-42854408	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv1029933	chr5:42611976-42833385	Enhancers Transcr. at gene 5' and 3' Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	nsv537735	chr5:42611976-42833385	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	nsv1019648	chr5:42616487-42696943	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
11	nsv537736	chr5:42616487-42696943	Strong transcription Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:42677000-42691600	Weak transcription	Aorta	Aorta
2	chr5:42679800-42691600	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr5:42683200-42691200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr5:42685000-42691800	Weak transcription	Right Ventricle	heart
5	chr5:42685400-42691200	Weak transcription	Stomach Smooth Muscle	stomach
6	chr5:42687000-42691400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr5:42687400-42691800	Weak transcription	Gastric	stomach
8	chr5:42687800-42700600	Weak transcription	Fetal Intestine Large	intestine
9	chr5:42688000-42691600	Weak transcription	Ovary	ovary
10	chr5:42688000-42692200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr5:42688000-42699800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr5:42688200-42691200	Weak transcription	Fetal Stomach	stomach
13	chr5:42688400-42690400	Strong transcription	Fetal Muscle Leg	muscle
14	chr5:42688400-42722200	Weak transcription	Pancreas	Pancrea
15	chr5:42688600-42699000	Weak transcription	Esophagus	oesophagus
16	chr5:42688800-42690400	Strong transcription	Fetal Lung	lung
17	chr5:42689000-42690400	Strong transcription	Fetal Muscle Trunk	muscle
18	chr5:42689000-42690600	Strong transcription	Skeletal Muscle Female	skeletal muscle
19	chr5:42689200-42690400	Enhancers	Psoas Muscle	Psoas
20	chr5:42689400-42690200	Weak transcription	Placenta	Placenta
21	chr5:42689400-42690400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr5:42689400-42690400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr5:42689400-42690400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr5:42689400-42690400	Enhancers	Right Atrium	heart
25	chr5:42689400-42691800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr5:42689600-42690400	Genic enhancers	Left Ventricle	heart
27	chr5:42689600-42692600	Enhancers	Fetal Heart	heart
28	chr5:42689600-42693400	Weak transcription	Spleen	Spleen
29	chr5:42689800-42690000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr5:42689800-42691800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr5:42689800-42691800	Weak transcription	Lung	lung
32	chr5:42689800-42703000	Strong transcription	Liver	Liver
33	chr5:42689800-42703400	Strong transcription	Adipose Nuclei	Adipose

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