Variant report

Variant	rs7718036
Chromosome Location	chr5:52227359-52227360
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10038773	0.91[CHB][hapmap];0.82[AFR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10044180	0.91[CHB][hapmap];0.95[AFR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10064345	0.88[AFR][1000 genomes]
rs10075277	1.00[CEU][hapmap];0.91[CHB][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10513003	1.00[CEU][hapmap];0.90[CHB][hapmap];0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10940279	0.88[AFR][1000 genomes]
rs12697100	0.81[CHB][hapmap];0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16876244	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16880466	0.83[CEU][hapmap]
rs16880533	1.00[CEU][hapmap];0.83[CHB][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16880534	1.00[CEU][hapmap];0.91[CHB][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57847007	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6450094	0.81[CHB][hapmap];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6450095	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6450096	0.81[CHB][hapmap];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs66556395	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72756591	0.81[ASN][1000 genomes]
rs7723398	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7728585	1.00[CEU][hapmap];0.91[CHB][hapmap];0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[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	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
6	nsv830296	chr5:52209528-52410253	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:52188800-52228200	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr5:52202200-52252200	Weak transcription	Small Intestine	intestine
3	chr5:52206400-52240800	Weak transcription	Rectal Smooth Muscle	rectum
4	chr5:52211400-52239400	Weak transcription	Right Ventricle	heart
5	chr5:52211400-52240200	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr5:52211600-52244400	Weak transcription	HepG2	liver
7	chr5:52212200-52237400	Strong transcription	Liver	Liver
8	chr5:52215200-52228200	Weak transcription	Placenta	Placenta
9	chr5:52218400-52229200	Weak transcription	Pancreas	Pancrea
10	chr5:52218600-52237000	Weak transcription	Psoas Muscle	Psoas
11	chr5:52218600-52239400	Weak transcription	Ovary	ovary
12	chr5:52218600-52242200	Weak transcription	Fetal Kidney	kidney
13	chr5:52218800-52240800	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr5:52219000-52230400	Weak transcription	HSMMtube	muscle
15	chr5:52219200-52235200	Weak transcription	NHDF-Ad	bronchial
16	chr5:52219200-52240800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr5:52219200-52240800	Weak transcription	NHLF	lung
18	chr5:52220000-52243000	Weak transcription	Gastric	stomach
19	chr5:52220400-52239400	Weak transcription	Fetal Muscle Leg	muscle
20	chr5:52220600-52228600	Strong transcription	Stomach Smooth Muscle	stomach
21	chr5:52220600-52232200	Weak transcription	Spleen	Spleen
22	chr5:52220600-52235600	Weak transcription	Fetal Intestine Small	intestine
23	chr5:52220600-52236600	Weak transcription	Lung	lung
24	chr5:52220600-52252000	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr5:52221400-52240600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr5:52221400-52251800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr5:52221800-52227800	Weak transcription	Dnd41	blood
28	chr5:52222400-52228000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr5:52222600-52228600	Strong transcription	Adipose Nuclei	Adipose
30	chr5:52223000-52228400	Strong transcription	Fetal Lung	lung
31	chr5:52223800-52231800	Strong transcription	Colon Smooth Muscle	Colon
32	chr5:52224000-52235200	Weak transcription	Fetal Intestine Large	intestine
33	chr5:52224000-52236800	Weak transcription	Aorta	Aorta
34	chr5:52224000-52239400	Weak transcription	Fetal Stomach	stomach
35	chr5:52224200-52244600	Weak transcription	Primary T cells from cord blood	blood
36	chr5:52224600-52227800	Weak transcription	Duodenum Mucosa	Duodenum
37	chr5:52225000-52227800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr5:52225200-52232200	Weak transcription	Left Ventricle	heart
39	chr5:52225200-52239800	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr5:52225400-52228000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr5:52226000-52229600	Strong transcription	Duodenum Smooth Muscle	Duodenum
42	chr5:52226200-52228600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr5:52226800-52227400	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr5:52227000-52240800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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