Variant report

Variant	rs71608480
Chromosome Location	chr4:143290778-143290779
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11938760	0.85[ASN][1000 genomes]
rs13133199	0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs1391095	0.90[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs1391097	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1497386	0.82[EUR][1000 genomes]
rs17016027	0.94[ASN][1000 genomes]
rs2029990	0.82[ASN][1000 genomes]
rs2130253	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4626289	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6838117	0.81[EUR][1000 genomes]
rs977619	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv498005	chr4:142515689-143502988	Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv1027781	chr4:142943485-143306567	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv830100	chr4:143216951-143393305	Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:143273400-143299000	Weak transcription	Left Ventricle	heart
2	chr4:143278400-143294200	Weak transcription	Stomach Mucosa	stomach
3	chr4:143285000-143294600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
4	chr4:143285200-143298400	Enhancers	Primary T helper cells fromperipheralblood	blood
5	chr4:143286800-143293800	Weak transcription	Osteobl	bone
6	chr4:143287000-143293800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr4:143288000-143293400	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr4:143288400-143293800	Weak transcription	Aorta	Aorta
9	chr4:143288800-143296200	Weak transcription	A549	lung
10	chr4:143289000-143291400	Enhancers	Primary T killer memory cells from peripheral blood	blood
11	chr4:143289000-143293800	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr4:143289000-143293800	Weak transcription	Small Intestine	intestine
13	chr4:143289000-143295200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr4:143289000-143300600	Weak transcription	Stomach Smooth Muscle	stomach
15	chr4:143289200-143293400	Weak transcription	Fetal Heart	heart
16	chr4:143289200-143300000	Weak transcription	NH-A	brain
17	chr4:143289400-143291400	Enhancers	NHEK	skin
18	chr4:143290000-143291200	Enhancers	Primary T cells fromperipheralblood	blood
19	chr4:143290000-143294000	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr4:143290200-143291000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr4:143290200-143292000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr4:143290200-143293400	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr4:143290200-143296400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
24	chr4:143290200-143298400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
25	chr4:143290400-143290800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr4:143290400-143290800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr4:143290400-143291000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr4:143290400-143293000	Enhancers	Primary T helper naive cells from peripheral blood	blood
29	chr4:143290400-143293800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr4:143290400-143293800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr4:143290400-143293800	Weak transcription	HSMM	muscle
32	chr4:143290400-143293800	Weak transcription	NHDF-Ad	bronchial
33	chr4:143290400-143305800	Weak transcription	Primary hematopoietic stem cells	blood
34	chr4:143290400-143322000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
35	chr4:143290600-143291200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr4:143290600-143292000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr4:143290600-143292200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr4:143290600-143292600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr4:143290600-143292600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
40	chr4:143290600-143292800	Enhancers	Primary T helper cells PMA-I stimulated	--
41	chr4:143290600-143293400	Weak transcription	HSMMtube	muscle
42	chr4:143290600-143293600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr4:143290600-143293800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr4:143290600-143293800	Weak transcription	HMEC	breast
45	chr4:143290600-143296400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
46	chr4:143290600-143296600	Weak transcription	Primary T cells from cord blood	blood
47	chr4:143290600-143296600	Weak transcription	Dnd41	blood

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