Variant report

Variant	rs4242043
Chromosome Location	chr5:54034103-54034104
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:54027207..54029848-chr5:54032087..54034780,2	K562	blood:
2	chr5:54014127..54018411-chr5:54034085..54037239,3	K562	blood:
3	chr5:54021789..54023863-chr5:54032643..54034362,3	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RP11-45H22.3.1-3	chr5:54033833-54034194	NONHSAT101454

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10077227	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10077228	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10940420	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10940421	0.85[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11741898	0.91[ASN][1000 genomes]
rs12520102	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13180905	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1445837	0.91[ASN][1000 genomes]
rs1445838	0.91[ASN][1000 genomes]
rs1445839	0.91[ASN][1000 genomes]
rs1867687	0.91[ASN][1000 genomes]
rs1979010	0.81[ASN][1000 genomes]
rs35207106	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4367251	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4367252	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4367253	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4410612	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4419552	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4487449	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4541609	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4596333	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4639171	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4639172	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6872707	0.91[ASN][1000 genomes]
rs6881842	0.92[ASN][1000 genomes]
rs6899028	0.90[ASN][1000 genomes]
rs7701622	0.90[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7710924	0.89[CEU][hapmap];0.86[CHB][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7735360	0.90[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7735378	0.89[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7736184	0.94[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs895329	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9292068	0.91[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	nsv880717	chr5:54025701-54106378	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:54017000-54038000	Weak transcription	Aorta	Aorta
2	chr5:54027400-54035800	Weak transcription	Primary B cells from cord blood	blood
3	chr5:54031800-54034200	Enhancers	Fetal Lung	lung
4	chr5:54032600-54037400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr5:54032600-54038200	Weak transcription	Fetal Heart	heart
6	chr5:54032600-54038800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr5:54033600-54034800	Enhancers	Monocytes-CD14+_RO01746	blood
8	chr5:54033800-54034200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr5:54033800-54034200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr5:54033800-54034200	Enhancers	Fetal Muscle Leg	muscle
11	chr5:54033800-54034200	Enhancers	HSMM	muscle
12	chr5:54033800-54034200	Flanking Active TSS	NHDF-Ad	bronchial
13	chr5:54033800-54034200	Flanking Active TSS	NHLF	lung
14	chr5:54033800-54034400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr5:54033800-54034400	Enhancers	Adipose Nuclei	Adipose
16	chr5:54033800-54034400	Enhancers	Esophagus	oesophagus
17	chr5:54033800-54034400	Enhancers	Gastric	stomach
18	chr5:54033800-54034400	Enhancers	Left Ventricle	heart
19	chr5:54033800-54034400	Enhancers	Psoas Muscle	Psoas
20	chr5:54033800-54034600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr5:54033800-54034600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr5:54033800-54034600	Enhancers	Primary neutrophils fromperipheralblood	blood
23	chr5:54033800-54034600	Enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr5:54033800-54034600	Enhancers	Muscle Satellite Cultured Cells	--
25	chr5:54033800-54034600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr5:54033800-54034600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr5:54033800-54034600	Enhancers	Placenta	Placenta
28	chr5:54033800-54034600	Enhancers	Right Ventricle	heart
29	chr5:54033800-54034600	Enhancers	HUVEC	blood vessel
30	chr5:54033800-54034800	Enhancers	Primary monocytes fromperipheralblood	blood
31	chr5:54033800-54034800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr5:54033800-54037200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr5:54034000-54034200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr5:54034000-54034200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr5:54034000-54034200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
36	chr5:54034000-54034200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
37	chr5:54034000-54034400	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr5:54034000-54034400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr5:54034000-54034400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr5:54034000-54034400	Enhancers	Brain Hippocampus Middle	brain
41	chr5:54034000-54034400	Enhancers	Fetal Muscle Trunk	muscle
42	chr5:54034000-54034400	Enhancers	Fetal Stomach	stomach
43	chr5:54034000-54034400	Enhancers	Skeletal Muscle Female	skeletal muscle
44	chr5:54034000-54034400	Enhancers	Stomach Mucosa	stomach
45	chr5:54034000-54034400	Enhancers	Spleen	Spleen
46	chr5:54034000-54034400	Enhancers	Osteobl	bone
47	chr5:54034000-54034600	Enhancers	H9 Cell Line	embryonic stem cell
48	chr5:54034000-54034600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr5:54034000-54034600	Enhancers	iPS-20b Cell Line	embryonic stem cell
50	chr5:54034000-54034600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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