Variant report

Variant	rs35703418
Chromosome Location	chr5:42591570-42591571
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10941581	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11954102	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13162596	0.89[EUR][1000 genomes]
rs59463904	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72754922	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72754935	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72754947	0.85[EUR][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	nsv1020464	chr5:42488628-42699394	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1018751	chr5:42491883-42697923	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:42588600-42591600	Weak transcription	Left Ventricle	heart
2	chr5:42590000-42591600	Enhancers	HSMM	muscle
3	chr5:42590000-42591800	Enhancers	K562	blood
4	chr5:42590000-42592000	Enhancers	Rectal Smooth Muscle	rectum
5	chr5:42590000-42592400	Enhancers	Right Ventricle	heart
6	chr5:42590400-42592000	Enhancers	Primary hematopoietic stem cells	blood
7	chr5:42590400-42592000	Enhancers	Placenta Amnion	Placenta Amnion
8	chr5:42590400-42592200	Enhancers	Fetal Lung	lung
9	chr5:42590600-42591600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr5:42590600-42591800	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr5:42590600-42592000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr5:42590600-42592000	Enhancers	Right Atrium	heart
13	chr5:42590600-42592200	Enhancers	Adipose Nuclei	Adipose
14	chr5:42590600-42592200	Enhancers	Fetal Stomach	stomach
15	chr5:42590600-42592400	Enhancers	Fetal Muscle Leg	muscle
16	chr5:42590800-42591600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr5:42590800-42591600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr5:42590800-42591600	Enhancers	Brain Anterior Caudate	brain
19	chr5:42590800-42591800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr5:42590800-42591800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr5:42590800-42591800	Flanking Active TSS	HSMMtube	muscle
22	chr5:42590800-42592000	Enhancers	Muscle Satellite Cultured Cells	--
23	chr5:42590800-42592000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr5:42590800-42592000	Enhancers	Aorta	Aorta
25	chr5:42590800-42592000	Enhancers	Ovary	ovary
26	chr5:42590800-42592200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr5:42590800-42592400	Enhancers	Fetal Intestine Large	intestine
28	chr5:42591000-42591600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr5:42591000-42591600	Enhancers	Sigmoid Colon	Sigmoid Colon
30	chr5:42591000-42591800	Enhancers	Small Intestine	intestine
31	chr5:42591000-42592000	Enhancers	Fetal Intestine Small	intestine
32	chr5:42591000-42592000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
33	chr5:42591000-42592800	Enhancers	Fetal Heart	heart
34	chr5:42591200-42591600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
35	chr5:42591200-42591600	Enhancers	Primary B cells from peripheral blood	blood
36	chr5:42591200-42591600	Enhancers	Primary hematopoietic stem cells short term culture	blood
37	chr5:42591200-42591600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr5:42591200-42591600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr5:42591200-42591600	Weak transcription	Psoas Muscle	Psoas
40	chr5:42591200-42591600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
41	chr5:42591200-42591800	Enhancers	Lung	lung
42	chr5:42591200-42591800	Active TSS	Stomach Smooth Muscle	stomach
43	chr5:42591200-42592200	Enhancers	Esophagus	oesophagus
44	chr5:42591200-42592200	Enhancers	Fetal Muscle Trunk	muscle
45	chr5:42591200-42592400	Enhancers	Skeletal Muscle Male	skeletal muscle
46	chr5:42591200-42593000	Weak transcription	Liver	Liver
47	chr5:42591400-42592000	Enhancers	Colon Smooth Muscle	Colon
48	chr5:42591400-42592000	Enhancers	Duodenum Smooth Muscle	Duodenum
49	chr5:42591400-42592000	Weak transcription	Spleen	Spleen
50	chr5:42591400-42592400	Enhancers	Breast Myoepithelial Primary Cells	Breast

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