Variant report

Variant	rs7728825
Chromosome Location	chr5:93384594-93384595
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1031423	1.00[ASW][hapmap];0.88[CEU][hapmap];0.94[CHB][hapmap];0.92[CHD][hapmap];0.81[JPT][hapmap];0.87[LWK][hapmap];0.88[MEX][hapmap];0.90[MKK][hapmap];0.81[YRI][hapmap];0.87[ASN][1000 genomes]
rs10866760	1.00[ASW][hapmap];1.00[CEU][hapmap];0.94[CHB][hapmap];0.92[CHD][hapmap];0.90[JPT][hapmap];0.85[LWK][hapmap];0.88[MEX][hapmap];0.92[MKK][hapmap];0.87[TSI][hapmap];0.85[YRI][hapmap];0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11135394	0.89[CEU][hapmap];0.94[CHB][hapmap];0.96[CHD][hapmap];0.81[JPT][hapmap];0.89[LWK][hapmap];0.88[MEX][hapmap];0.84[MKK][hapmap];0.89[YRI][hapmap];0.81[ASN][1000 genomes]
rs11135401	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11948511	1.00[ASW][hapmap];0.94[CEU][hapmap];0.94[CHB][hapmap];0.88[CHD][hapmap];0.81[JPT][hapmap];1.00[LWK][hapmap];0.88[MEX][hapmap];0.92[MKK][hapmap];0.87[TSI][hapmap];0.92[YRI][hapmap];0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs13186432	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17083380	0.81[ASN][1000 genomes]
rs2043979	0.81[ASN][1000 genomes]
rs35672980	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs60375544	0.84[EUR][1000 genomes]
rs6860390	0.94[CEU][hapmap];0.88[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.82[TSI][hapmap];0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6869110	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7708175	1.00[ASW][hapmap];1.00[CEU][hapmap];0.94[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.88[MEX][hapmap];1.00[MKK][hapmap];0.92[TSI][hapmap];0.96[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7721668	1.00[ASW][hapmap];0.94[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.81[JPT][hapmap];0.87[LWK][hapmap];0.88[MEX][hapmap];0.92[MKK][hapmap];0.87[TSI][hapmap];0.85[YRI][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7727923	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7732578	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];0.88[MEX][hapmap];0.85[MKK][hapmap];0.92[TSI][hapmap];0.85[YRI][hapmap];0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7733142	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7735009	0.94[CEU][hapmap];0.94[CHB][hapmap];0.92[JPT][hapmap];0.88[YRI][hapmap];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532196	chr5:92933949-93573527	Strong transcription Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv1023191	chr5:93351646-93947928	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv537808	chr5:93351646-93947928	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	esv2753025	chr5:93356544-93812844	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:93327000-93394600	Weak transcription	Small Intestine	intestine
2	chr5:93345000-93395200	Weak transcription	Rectal Smooth Muscle	rectum
3	chr5:93348400-93399000	Weak transcription	Esophagus	oesophagus
4	chr5:93348800-93394000	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr5:93349200-93386200	Weak transcription	Spleen	Spleen
6	chr5:93351000-93394400	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr5:93353400-93394600	Weak transcription	Fetal Kidney	kidney
8	chr5:93354800-93400200	Weak transcription	Duodenum Mucosa	Duodenum
9	chr5:93354800-93400200	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr5:93355000-93398400	Weak transcription	Right Ventricle	heart
11	chr5:93357400-93393400	Weak transcription	Brain Hippocampus Middle	brain
12	chr5:93357600-93385800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr5:93357600-93393400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr5:93357600-93394600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr5:93357800-93399200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr5:93358000-93393000	Weak transcription	Stomach Smooth Muscle	stomach
17	chr5:93358200-93385400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr5:93358400-93396800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr5:93362000-93389600	Weak transcription	Lung	lung
20	chr5:93362000-93398600	Weak transcription	Gastric	stomach
21	chr5:93366000-93391400	Weak transcription	HSMM	muscle
22	chr5:93366400-93394400	Weak transcription	Left Ventricle	heart
23	chr5:93367600-93390000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr5:93368400-93393400	Weak transcription	Psoas Muscle	Psoas
25	chr5:93370400-93393400	Weak transcription	Brain Angular Gyrus	brain
26	chr5:93370600-93398400	Weak transcription	Aorta	Aorta
27	chr5:93375000-93384800	Weak transcription	HSMMtube	muscle
28	chr5:93375200-93386000	Weak transcription	Brain Cingulate Gyrus	brain
29	chr5:93376000-93394200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
30	chr5:93377200-93384800	Weak transcription	Fetal Muscle Trunk	muscle
31	chr5:93377200-93387600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr5:93377200-93387600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr5:93377600-93390600	Weak transcription	Fetal Stomach	stomach
34	chr5:93379000-93389800	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr5:93379600-93388800	Strong transcription	Monocytes-CD14+_RO01746	blood
36	chr5:93380400-93384800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr5:93380400-93393000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr5:93380400-93394000	Weak transcription	Brain Germinal Matrix	brain
39	chr5:93380400-93394400	Weak transcription	Fetal Muscle Leg	muscle
40	chr5:93380400-93403800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr5:93380600-93387400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr5:93380600-93387800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr5:93380600-93391400	Weak transcription	Primary hematopoietic stem cells	blood
44	chr5:93380600-93394400	Weak transcription	Thymus	Thymus
45	chr5:93380600-93395800	Weak transcription	Fetal Brain Female	brain
46	chr5:93380600-93398400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr5:93380600-93399000	Weak transcription	Ovary	ovary
48	chr5:93380600-93399200	Weak transcription	Fetal Lung	lung
49	chr5:93380600-93402600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr5:93380600-93403200	Weak transcription	Sigmoid Colon	Sigmoid Colon

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