Variant report

Variant	rs4145748
Chromosome Location	chr5:52201722-52201723
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs12518145	1.00[YRI][hapmap]
rs12520591	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12656098	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1445937	1.00[YRI][hapmap]
rs16880493	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16880627	1.00[YRI][hapmap]
rs2279586	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2279587	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2302960	1.00[CEU][hapmap];0.81[CHB][hapmap];0.92[CHD][hapmap];0.86[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];0.91[TSI][hapmap];1.00[YRI][hapmap];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs60925406	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6867926	1.00[YRI][hapmap]
rs7701575	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9637769	1.00[YRI][hapmap]

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	nsv462187	chr5:51758804-52333420	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers 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	43 gene(s)	inside rSNPs	diseases
2	nsv598163	chr5:51758804-52333420	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS 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	43 gene(s)	inside rSNPs	diseases
3	nsv471013	chr5:51779197-52339114	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
4	nsv830295	chr5:52084532-52257696	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
5	nsv949005	chr5:52188028-52808229	Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:52142000-52220200	Weak transcription	Fetal Muscle Trunk	muscle
2	chr5:52166800-52214800	Weak transcription	Spleen	Spleen
3	chr5:52174600-52210600	Weak transcription	Hela-S3	cervix
4	chr5:52181200-52214000	Weak transcription	Placenta	Placenta
5	chr5:52188800-52218200	Weak transcription	Duodenum Mucosa	Duodenum
6	chr5:52188800-52228200	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr5:52189200-52211000	Weak transcription	Fetal Intestine Small	intestine
8	chr5:52189800-52210800	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr5:52191600-52218400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr5:52192200-52203200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr5:52192200-52205200	Weak transcription	Rectal Smooth Muscle	rectum
12	chr5:52192200-52211000	Weak transcription	Right Ventricle	heart
13	chr5:52192200-52218400	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr5:52192200-52219600	Weak transcription	Fetal Stomach	stomach
15	chr5:52192200-52220000	Weak transcription	Lung	lung
16	chr5:52193000-52211000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr5:52193200-52205600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr5:52193200-52218400	Weak transcription	Fetal Kidney	kidney
19	chr5:52193600-52206000	Weak transcription	NHDF-Ad	bronchial
20	chr5:52193600-52211000	Weak transcription	NHLF	lung
21	chr5:52195200-52206000	Weak transcription	Left Ventricle	heart
22	chr5:52195200-52218400	Weak transcription	Fetal Intestine Large	intestine
23	chr5:52195200-52219000	Weak transcription	Fetal Muscle Leg	muscle
24	chr5:52195400-52202600	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr5:52196000-52203000	Weak transcription	Dnd41	blood
26	chr5:52197000-52204600	Weak transcription	Colon Smooth Muscle	Colon
27	chr5:52197400-52211000	Weak transcription	Fetal Lung	lung
28	chr5:52198400-52210600	Weak transcription	Primary T cells from cord blood	blood
29	chr5:52198400-52213600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr5:52198400-52218200	Weak transcription	Aorta	Aorta
31	chr5:52199800-52210800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr5:52200200-52201800	Weak transcription	Liver	Liver
33	chr5:52200200-52201800	Weak transcription	Stomach Smooth Muscle	stomach
34	chr5:52200200-52202200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr5:52200200-52203000	Weak transcription	HSMMtube	muscle
36	chr5:52200200-52204800	Weak transcription	Adipose Nuclei	Adipose
37	chr5:52200200-52213600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr5:52200400-52204200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr5:52201600-52203200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland

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