Variant report

Variant	rs34417548
Chromosome Location	chr5:42842229-42842230
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs1046068	0.80[ASN][1000 genomes]
rs11953554	0.85[ASN][1000 genomes]
rs11958761	0.85[ASN][1000 genomes]
rs12516157	0.80[ASN][1000 genomes]
rs12517008	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12520759	0.82[ASN][1000 genomes]
rs13167366	0.86[EUR][1000 genomes]
rs1423649	0.83[ASN][1000 genomes]
rs1423650	0.83[EUR][1000 genomes]
rs1833906	0.81[EUR][1000 genomes]
rs1862629	0.89[EUR][1000 genomes]
rs28919892	0.80[ASN][1000 genomes]
rs28919916	0.80[ASN][1000 genomes]
rs2910880	0.88[EUR][1000 genomes]
rs2972756	0.88[EUR][1000 genomes]
rs2972757	0.87[EUR][1000 genomes]
rs2972758	0.87[EUR][1000 genomes]
rs2972759	0.88[EUR][1000 genomes]
rs2972761	0.88[EUR][1000 genomes]
rs2972763	0.87[EUR][1000 genomes]
rs35293842	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs35896631	0.85[ASN][1000 genomes]
rs3849695	0.83[ASN][1000 genomes]
rs4143864	0.80[ASN][1000 genomes]
rs4409101	0.83[EUR][1000 genomes]
rs4866800	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4866801	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4866803	0.82[ASN][1000 genomes]
rs4866804	0.85[ASN][1000 genomes]
rs4866806	0.85[ASN][1000 genomes]
rs4866968	0.82[EUR][1000 genomes]
rs59073137	0.83[ASN][1000 genomes]
rs61099053	0.81[ASN][1000 genomes]
rs61371942	0.81[ASN][1000 genomes]
rs62370959	0.83[ASN][1000 genomes]
rs6880056	0.83[ASN][1000 genomes]
rs6882333	0.86[EUR][1000 genomes]
rs6882786	0.83[ASN][1000 genomes]
rs6896902	0.82[ASN][1000 genomes]
rs7579	0.80[ASN][1000 genomes]
rs7703376	0.85[ASN][1000 genomes]
rs7719242	0.85[ASN][1000 genomes]
rs7735857	0.83[ASN][1000 genomes]
rs882775	0.83[ASN][1000 genomes]
rs9687651	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 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	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
4	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
5	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
6	nsv993554	chr5:42720939-43251863	Bivalent/Poised TSS Strong transcription Active TSS Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	298 gene(s)	inside rSNPs	diseases
7	nsv462126	chr5:42728831-43237188	Active TSS Enhancers Bivalent Enhancer Weak transcription Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	297 gene(s)	inside rSNPs	diseases
8	nsv597925	chr5:42728831-43237188	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	297 gene(s)	inside rSNPs	diseases
9	nsv523033	chr5:42752037-42919685	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
10	nsv965602	chr5:42767568-42889585	Enhancers Active TSS Genic enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
11	nsv1023741	chr5:42768215-43348145	Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	309 gene(s)	inside rSNPs	diseases
12	nsv537737	chr5:42768215-43348145	Genic enhancers Enhancers Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	309 gene(s)	inside rSNPs	diseases
13	nsv534185	chr5:42804840-43067088	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	165 gene(s)	inside rSNPs	diseases
14	nsv1018276	chr5:42809131-42975245	Strong transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:42840600-42842400	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr5:42840800-42843800	Enhancers	HepG2	liver
3	chr5:42840800-42844200	Enhancers	Adipose Nuclei	Adipose
4	chr5:42841000-42842800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr5:42841000-42843200	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr5:42841200-42842800	Weak transcription	Colon Smooth Muscle	Colon
7	chr5:42841200-42843000	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr5:42841200-42844400	Enhancers	Liver	Liver
9	chr5:42841400-42842400	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr5:42841400-42843200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr5:42841400-42843200	Weak transcription	Brain Cingulate Gyrus	brain
12	chr5:42841400-42843200	Weak transcription	K562	blood
13	chr5:42841600-42842800	Weak transcription	Fetal Heart	heart
14	chr5:42841600-42842800	Weak transcription	Right Ventricle	heart
15	chr5:42841600-42842800	Weak transcription	HSMMtube	muscle
16	chr5:42841600-42843000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr5:42841600-42843200	Weak transcription	Brain Angular Gyrus	brain
18	chr5:42841600-42843200	Weak transcription	Brain Hippocampus Middle	brain
19	chr5:42841600-42843400	Weak transcription	Fetal Intestine Large	intestine
20	chr5:42841600-42843400	Weak transcription	Fetal Lung	lung
21	chr5:42841600-42843400	Weak transcription	Left Ventricle	heart
22	chr5:42841600-42843600	Weak transcription	Brain Anterior Caudate	brain
23	chr5:42841600-42843600	Weak transcription	Fetal Intestine Small	intestine
24	chr5:42841600-42843600	Weak transcription	HSMM	muscle
25	chr5:42841600-42844000	Weak transcription	Ovary	ovary
26	chr5:42841800-42842800	Weak transcription	Osteobl	bone
27	chr5:42842000-42843200	Weak transcription	Rectal Smooth Muscle	rectum
28	chr5:42842200-42842400	Enhancers	Brain Substantia Nigra	brain
29	chr5:42842200-42843200	Weak transcription	Psoas Muscle	Psoas

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