Variant report

Variant	rs4957342
Chromosome Location	chr5:40694154-40694155
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10036575	0.86[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs10038769	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10042750	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10055925	0.86[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs10078575	0.87[ASN][1000 genomes]
rs1345778	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1692252	0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs28540420	0.86[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs4509070	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs57806386	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs60770691	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6860328	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6872282	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6873054	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6897169	0.87[ASN][1000 genomes]
rs7716285	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7726270	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7730368	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs980093	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv880539	chr5:40662257-40713645	Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:40684000-40700600	Weak transcription	Left Ventricle	heart
2	chr5:40684600-40700400	Weak transcription	Right Ventricle	heart
3	chr5:40688400-40696400	Weak transcription	Liver	Liver
4	chr5:40688400-40700400	Weak transcription	Stomach Mucosa	stomach
5	chr5:40688800-40694600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr5:40688800-40696800	Weak transcription	Fetal Lung	lung
7	chr5:40688800-40697000	Strong transcription	Fetal Thymus	thymus
8	chr5:40688800-40718600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr5:40689600-40694400	Strong transcription	Primary hematopoietic stem cells	blood
10	chr5:40690000-40695800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr5:40690200-40694200	Weak transcription	Osteobl	bone
12	chr5:40690200-40694600	Strong transcription	Rectal Mucosa Donor 29	rectum
13	chr5:40690200-40695200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
14	chr5:40690400-40695200	Strong transcription	HSMM	muscle
15	chr5:40690400-40697200	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr5:40690600-40695400	Strong transcription	Duodenum Mucosa	Duodenum
17	chr5:40690800-40694200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr5:40690800-40694800	Strong transcription	HUVEC	blood vessel
19	chr5:40690800-40695800	Weak transcription	A549	lung
20	chr5:40691200-40694600	Strong transcription	Rectal Mucosa Donor 31	rectum
21	chr5:40691200-40694800	Strong transcription	Primary neutrophils fromperipheralblood	blood
22	chr5:40691200-40695200	Strong transcription	Primary monocytes fromperipheralblood	blood
23	chr5:40691200-40697000	Strong transcription	Primary T cells from cord blood	blood
24	chr5:40691400-40695000	Strong transcription	Primary B cells from peripheral blood	blood
25	chr5:40691600-40695200	Strong transcription	Adipose Nuclei	Adipose
26	chr5:40691600-40695400	Strong transcription	Muscle Satellite Cultured Cells	--
27	chr5:40692200-40701800	Weak transcription	Colon Smooth Muscle	Colon
28	chr5:40692400-40694200	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr5:40692400-40695200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr5:40692400-40741200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
31	chr5:40692600-40694600	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
32	chr5:40692600-40698600	Weak transcription	HSMMtube	muscle
33	chr5:40692800-40694200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr5:40692800-40694200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr5:40692800-40694200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr5:40692800-40694200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr5:40692800-40694200	Weak transcription	Aorta	Aorta
38	chr5:40692800-40694200	Weak transcription	Fetal Intestine Small	intestine
39	chr5:40692800-40694200	Weak transcription	Fetal Muscle Leg	muscle
40	chr5:40692800-40694200	Weak transcription	Fetal Stomach	stomach
41	chr5:40692800-40694200	Weak transcription	Lung	lung
42	chr5:40692800-40694200	Weak transcription	Stomach Smooth Muscle	stomach
43	chr5:40692800-40694200	Weak transcription	Spleen	Spleen
44	chr5:40692800-40694400	Weak transcription	Primary B cells from cord blood	blood
45	chr5:40692800-40694600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr5:40692800-40694600	Weak transcription	Thymus	Thymus
47	chr5:40692800-40694600	Weak transcription	NHLF	lung
48	chr5:40692800-40694800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr5:40692800-40695200	Strong transcription	Dnd41	blood
50	chr5:40692800-40700400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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