Variant report

Variant	rs3753180
Chromosome Location	chr5:36672946-36672947
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1001571	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10080178	1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[ASN][1000 genomes]
rs10473036	1.00[MEX][hapmap]
rs2301064	0.80[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs59385748	1.00[EUR][1000 genomes]
rs6860851	1.00[MEX][hapmap]
rs6892871	1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];0.82[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73089416	1.00[EUR][1000 genomes]
rs7731495	1.00[EUR][1000 genomes]
rs9283743	1.00[EUR][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	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
3	nsv969921	chr5:36645147-36696229	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:36655400-36684200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr5:36655400-36690000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr5:36656000-36673800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr5:36658200-36690000	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr5:36658600-36684000	Weak transcription	Esophagus	oesophagus
6	chr5:36659000-36689400	Weak transcription	Osteobl	bone
7	chr5:36659400-36683400	Weak transcription	NHDF-Ad	bronchial
8	chr5:36662000-36690000	Weak transcription	Psoas Muscle	Psoas
9	chr5:36663000-36689600	Weak transcription	Fetal Brain Female	brain
10	chr5:36666000-36690000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr5:36667400-36688200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr5:36667600-36689200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr5:36668200-36677000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr5:36668200-36679800	Weak transcription	Fetal Lung	lung
15	chr5:36668200-36690000	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr5:36668400-36685000	Weak transcription	Fetal Intestine Large	intestine
17	chr5:36668400-36689200	Weak transcription	NHEK	skin
18	chr5:36668600-36690000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr5:36668800-36679600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr5:36669200-36679200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr5:36669200-36681400	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr5:36669400-36674000	Weak transcription	Aorta	Aorta
23	chr5:36669600-36679200	Weak transcription	Right Ventricle	heart
24	chr5:36670200-36684000	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr5:36670600-36674800	Strong transcription	Brain Hippocampus Middle	brain
26	chr5:36670600-36683200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr5:36670800-36673400	Strong transcription	Left Ventricle	heart
28	chr5:36670800-36674000	Strong transcription	Fetal Muscle Leg	muscle
29	chr5:36670800-36675000	Strong transcription	Placenta	Placenta
30	chr5:36670800-36677400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr5:36671000-36673000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr5:36671000-36674000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr5:36671000-36675600	Strong transcription	Monocytes-CD14+_RO01746	blood
34	chr5:36671000-36680800	Strong transcription	HSMM	muscle
35	chr5:36671200-36673600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr5:36671200-36673800	Strong transcription	Brain Angular Gyrus	brain
37	chr5:36671200-36674400	Strong transcription	H1 Cell Line	embryonic stem cell
38	chr5:36671400-36675600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr5:36671400-36681400	Strong transcription	Adipose Nuclei	Adipose
40	chr5:36671400-36690200	Weak transcription	Pancreas	Pancrea
41	chr5:36671600-36673000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr5:36671600-36673000	Strong transcription	Brain Cingulate Gyrus	brain
43	chr5:36671800-36673800	Strong transcription	Brain Substantia Nigra	brain
44	chr5:36671800-36675000	Strong transcription	Fetal Muscle Trunk	muscle
45	chr5:36672000-36673000	Strong transcription	Brain Inferior Temporal Lobe	brain
46	chr5:36672000-36674400	Strong transcription	Brain Anterior Caudate	brain
47	chr5:36672200-36673600	Weak transcription	Primary monocytes fromperipheralblood	blood
48	chr5:36672200-36673800	Strong transcription	Hela-S3	cervix
49	chr5:36672200-36674400	Strong transcription	HMEC	breast
50	chr5:36672200-36677200	Weak transcription	Skeletal Muscle Female	skeletal muscle

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