Variant report

Variant	rs7704355
Chromosome Location	chr5:42425424-42425425
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 85 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:81)

rs_ID	r²[population]
rs10061299	1.00[CEU][hapmap]
rs10755268	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1117110	0.92[EUR][1000 genomes]
rs11738365	0.88[CEU][hapmap];0.91[EUR][1000 genomes]
rs11742495	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11747975	0.87[CEU][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11748366	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11957616	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13162973	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1396768	0.95[EUR][1000 genomes]
rs1396773	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1467049	0.88[CEU][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1509452	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1509453	1.00[ASN][1000 genomes]
rs1509455	1.00[CEU][hapmap];0.99[EUR][1000 genomes]
rs1509456	1.00[CEU][hapmap];0.99[EUR][1000 genomes]
rs1567374	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1605848	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1605851	0.92[EUR][1000 genomes]
rs1858136	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs1858137	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1858139	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1876788	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1876790	1.00[CEU][hapmap];0.99[EUR][1000 genomes]
rs1912107	1.00[CEU][hapmap];0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1960498	0.88[CEU][hapmap];0.92[EUR][1000 genomes]
rs2036745	0.88[CEU][hapmap];0.90[EUR][1000 genomes]
rs2175126	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2202883	0.91[EUR][1000 genomes]
rs2221712	0.91[EUR][1000 genomes]
rs2395970	0.92[EUR][1000 genomes]
rs2940912	0.99[EUR][1000 genomes]
rs2940914	0.92[EUR][1000 genomes]
rs2940916	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2940917	0.88[CEU][hapmap];0.90[EUR][1000 genomes]
rs2940918	0.88[CEU][hapmap];0.90[EUR][1000 genomes]
rs2940919	0.88[CEU][hapmap];0.86[EUR][1000 genomes]
rs2940920	0.88[CEU][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2940922	0.88[CEU][hapmap];0.90[EUR][1000 genomes]
rs2940926	0.88[CEU][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2940928	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2940929	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2940931	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2940934	0.92[EUR][1000 genomes]
rs2940935	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2940939	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2940942	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2940943	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2972391	1.00[ASN][1000 genomes]
rs2972395	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2972400	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2972404	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2972406	0.89[EUR][1000 genomes]
rs2972407	0.88[CEU][hapmap];0.92[EUR][1000 genomes]
rs2972410	0.90[EUR][1000 genomes]
rs2972411	0.88[CEU][hapmap];0.90[EUR][1000 genomes]
rs2972412	0.87[CEU][hapmap];0.90[EUR][1000 genomes]
rs2972413	0.88[CEU][hapmap];0.90[EUR][1000 genomes]
rs2972414	0.85[EUR][1000 genomes]
rs2972415	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2972416	0.88[CEU][hapmap];0.90[EUR][1000 genomes]
rs2972417	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2972419	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34509769	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4642376	1.00[CEU][hapmap];0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4866890	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58416991	1.00[ASN][1000 genomes]
rs58960035	1.00[ASN][1000 genomes]
rs60126365	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61636452	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62370642	1.00[ASN][1000 genomes]
rs62370646	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62370648	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6451614	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6876736	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6881436	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6884737	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7379192	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7728337	0.88[CEU][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9686286	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs974051	0.91[EUR][1000 genomes];1.00[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	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	nsv881375	chr5:42254097-42442715	Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv948514	chr5:42270161-42519262	Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:42423000-42426000	Active TSS	Right Atrium	heart
2	chr5:42423400-42426400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr5:42424600-42425600	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
4	chr5:42424600-42425800	Flanking Bivalent TSS/Enh	Fetal Lung	lung
5	chr5:42424600-42426600	Flanking Active TSS	Adipose Nuclei	Adipose
6	chr5:42424800-42425600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr5:42424800-42426200	Flanking Active TSS	Stomach Smooth Muscle	stomach
8	chr5:42424800-42426400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
9	chr5:42424800-42427000	Flanking Active TSS	Liver	Liver
10	chr5:42425000-42425600	Flanking Active TSS	Brain Angular Gyrus	brain
11	chr5:42425000-42425600	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
12	chr5:42425000-42425600	Flanking Active TSS	Left Ventricle	heart
13	chr5:42425000-42425600	Flanking Active TSS	Ovary	ovary
14	chr5:42425000-42425600	Flanking Active TSS	Right Ventricle	heart
15	chr5:42425000-42425800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
16	chr5:42425200-42425600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr5:42425200-42425600	Flanking Active TSS	Fetal Intestine Large	intestine
18	chr5:42425200-42425600	Flanking Active TSS	Psoas Muscle	Psoas
19	chr5:42425200-42425800	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
20	chr5:42425200-42428000	Weak transcription	Gastric	stomach
21	chr5:42425200-42430000	Weak transcription	Aorta	Aorta
22	chr5:42425400-42425600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr5:42425400-42425600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
24	chr5:42425400-42425600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr5:42425400-42425600	Active TSS	Muscle Satellite Cultured Cells	--
26	chr5:42425400-42425600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr5:42425400-42425600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr5:42425400-42425600	Enhancers	Brain Inferior Temporal Lobe	brain
29	chr5:42425400-42425600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr5:42425400-42425600	Active TSS	Fetal Muscle Trunk	muscle
31	chr5:42425400-42425600	Flanking Active TSS	Fetal Muscle Leg	muscle
32	chr5:42425400-42425600	Active TSS	Rectal Smooth Muscle	rectum
33	chr5:42425400-42426000	Flanking Active TSS	Colon Smooth Muscle	Colon
34	chr5:42425400-42426000	Active TSS	Fetal Intestine Small	intestine
35	chr5:42425400-42426400	Weak transcription	Placenta	Placenta
36	chr5:42425400-42426600	Enhancers	Fetal Heart	heart
37	chr5:42425400-42428200	Weak transcription	Spleen	Spleen
38	chr5:42425400-42429200	Weak transcription	Esophagus	oesophagus

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