Variant report

Variant	rs7730537
Chromosome Location	chr5:36623695-36623696
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10941306	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1864213	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1864214	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2052885	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2115523	0.99[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv492319	chr5:36570707-37061019	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv830263	chr5:36576504-36755093	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:36608800-36639600	Weak transcription	Esophagus	oesophagus
2	chr5:36610600-36629800	Weak transcription	NHDF-Ad	bronchial
3	chr5:36611000-36633600	Weak transcription	Brain Germinal Matrix	brain
4	chr5:36611200-36630000	Weak transcription	Right Ventricle	heart
5	chr5:36613600-36624400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr5:36614000-36624000	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr5:36614000-36629600	Weak transcription	Fetal Muscle Leg	muscle
8	chr5:36615000-36624000	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr5:36615000-36629600	Weak transcription	Fetal Muscle Trunk	muscle
10	chr5:36615200-36624200	Weak transcription	HSMM	muscle
11	chr5:36615200-36627600	Weak transcription	Adipose Nuclei	Adipose
12	chr5:36615400-36630000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr5:36615400-36630200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr5:36615800-36629800	Weak transcription	Placenta	Placenta
15	chr5:36616000-36624000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr5:36616800-36651200	Weak transcription	Psoas Muscle	Psoas
17	chr5:36618200-36629400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr5:36618800-36624000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr5:36619200-36629800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr5:36619400-36629200	Weak transcription	Hela-S3	cervix
21	chr5:36619600-36627400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr5:36619600-36629000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr5:36619600-36630000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr5:36619800-36629000	Weak transcription	HMEC	breast
25	chr5:36619800-36629800	Weak transcription	NHEK	skin
26	chr5:36620600-36624000	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr5:36620600-36627800	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr5:36620600-36628000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr5:36620600-36630000	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr5:36620600-36633600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr5:36620800-36629800	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr5:36620800-36629800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr5:36620800-36638000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr5:36621600-36634600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr5:36622200-36624200	Weak transcription	Brain Angular Gyrus	brain
36	chr5:36622400-36624000	Weak transcription	Brain Anterior Caudate	brain
37	chr5:36622400-36624400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr5:36622400-36625800	Weak transcription	Fetal Heart	heart
39	chr5:36622400-36626400	Enhancers	Brain Hippocampus Middle	brain
40	chr5:36622400-36627600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr5:36622400-36629800	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr5:36622800-36629600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr5:36623000-36624000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr5:36623200-36624000	Weak transcription	Left Ventricle	heart
45	chr5:36623200-36624800	Enhancers	Primary hematopoietic stem cells short term culture	blood
46	chr5:36623400-36624200	Enhancers	Primary monocytes fromperipheralblood	blood
47	chr5:36623400-36624600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr5:36623400-36624800	Enhancers	Brain Cingulate Gyrus	brain
49	chr5:36623400-36625000	Enhancers	Primary hematopoietic stem cells	blood
50	chr5:36623400-36626600	Genic enhancers	Cortex derived primary cultured neurospheres	brain

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