Variant report

Variant	rs7730881
Chromosome Location	chr5:54017036-54017037
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:54014127..54017064-chr5:54035440..54037239,2	K562	blood:
2	chr5:54014127..54018411-chr5:54034085..54037239,3	K562	blood:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10051041	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13184145	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1823052	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2121129	0.93[ASN][1000 genomes]
rs34314188	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34607327	0.98[ASN][1000 genomes]
rs35820411	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3886214	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3923238	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4460095	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4508988	0.82[AFR][1000 genomes]
rs4596337	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62356380	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71600852	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7724122	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7725001	0.89[ASN][1000 genomes]
rs7729102	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[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	nsv965525	chr5:54010194-54018240	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:54013200-54020800	Enhancers	Fetal Heart	heart
2	chr5:54013800-54017600	Enhancers	Fetal Brain Male	brain
3	chr5:54014600-54023000	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr5:54015800-54017400	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr5:54015800-54018000	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr5:54015800-54021600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr5:54016000-54017400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr5:54016000-54018000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr5:54016000-54021400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr5:54016000-54022000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr5:54016200-54018200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr5:54016400-54018400	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr5:54016400-54018600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr5:54016400-54018600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr5:54016400-54021800	Weak transcription	HSMMtube	muscle
16	chr5:54016600-54018000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr5:54016600-54018200	Weak transcription	Osteobl	bone
18	chr5:54016600-54018600	Weak transcription	NHDF-Ad	bronchial
19	chr5:54016600-54021600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr5:54016800-54017600	Enhancers	Colon Smooth Muscle	Colon
21	chr5:54016800-54018200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr5:54016800-54018200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr5:54016800-54018600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr5:54016800-54021400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr5:54016800-54021600	Weak transcription	NH-A	brain
26	chr5:54016800-54021600	Weak transcription	NHLF	lung
27	chr5:54017000-54018600	Weak transcription	Ovary	ovary
28	chr5:54017000-54038000	Weak transcription	Aorta	Aorta

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