Variant report

Variant	rs7732990
Chromosome Location	chr5:43711002-43711003
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:43706278..43710005-chr5:43710732..43713947,4	K562	blood:
2	chr5:43708302..43711548-chr5:43712823..43716429,4	K562	blood:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11539647	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16873497	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7713421	1.00[AMR][1000 genomes]
rs7730507	1.00[AMR][1000 genomes]
rs7734126	1.00[AMR][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	nsv881017	chr5:43444826-43731692	Weak transcription Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	222 gene(s)	inside rSNPs	diseases
2	nsv881108	chr5:43527432-43800333	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	esv3471542	chr5:43665651-43824536	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
4	esv3471543	chr5:43665767-43824443	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:43661000-43711400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr5:43675200-43711400	Weak transcription	NH-A	brain
3	chr5:43680800-43715400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr5:43684200-43715400	Weak transcription	Stomach Smooth Muscle	stomach
5	chr5:43684800-43714600	Weak transcription	Aorta	Aorta
6	chr5:43686200-43711400	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr5:43695800-43711400	Weak transcription	Right Ventricle	heart
8	chr5:43696800-43711600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr5:43697000-43711400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr5:43697000-43715000	Weak transcription	Brain Cingulate Gyrus	brain
11	chr5:43697200-43711400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr5:43700600-43711400	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr5:43701600-43711600	Weak transcription	HSMMtube	muscle
14	chr5:43702200-43711400	Weak transcription	Placenta	Placenta
15	chr5:43703400-43711400	Weak transcription	NHDF-Ad	bronchial
16	chr5:43703400-43711400	Weak transcription	NHLF	lung
17	chr5:43703400-43712800	Weak transcription	Brain Anterior Caudate	brain
18	chr5:43704400-43711800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr5:43704600-43711600	Weak transcription	Osteobl	bone
20	chr5:43704800-43715200	Weak transcription	Fetal Muscle Trunk	muscle
21	chr5:43705000-43711600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr5:43705000-43715600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr5:43705400-43711400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr5:43705600-43711400	Weak transcription	HSMM	muscle
25	chr5:43705600-43711600	Weak transcription	Fetal Lung	lung
26	chr5:43705600-43713000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr5:43705800-43711400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr5:43706000-43716600	Weak transcription	Primary T cells from cord blood	blood
29	chr5:43706000-43725000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr5:43706200-43711400	Weak transcription	Fetal Heart	heart
31	chr5:43706400-43713200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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