Variant report

Variant	rs62270407
Chromosome Location	chr3:159597626-159597627
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs56008026	0.83[AFR][1000 genomes]
rs56986069	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs58957258	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62270405	0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73168583	0.83[AFR][1000 genomes]
rs7651948	0.97[AMR][1000 genomes];0.99[EUR][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	nsv877698	chr3:159583518-159640152	Genic enhancers Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
2	nsv997776	chr3:159585097-159668421	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:159579600-159599200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr3:159579600-159600600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr3:159583000-159600600	Weak transcription	Fetal Stomach	stomach
4	chr3:159584000-159599200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr3:159585000-159598800	Weak transcription	Fetal Brain Female	brain
6	chr3:159585600-159600600	Weak transcription	Fetal Muscle Trunk	muscle
7	chr3:159588200-159605200	Weak transcription	Primary hematopoietic stem cells	blood
8	chr3:159590200-159599400	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr3:159590400-159599200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr3:159590800-159617600	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr3:159591000-159600800	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr3:159591400-159599200	Weak transcription	HUVEC	blood vessel
13	chr3:159592400-159599600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr3:159593400-159605400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr3:159593600-159599600	Weak transcription	Adipose Nuclei	Adipose
16	chr3:159593800-159599200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr3:159594000-159606600	Weak transcription	Fetal Kidney	kidney
18	chr3:159594200-159599400	Weak transcription	Brain Germinal Matrix	brain
19	chr3:159594200-159599600	Weak transcription	Esophagus	oesophagus
20	chr3:159594800-159599200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr3:159594800-159599400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr3:159595000-159599600	Weak transcription	Lung	lung
23	chr3:159595200-159600800	Enhancers	Muscle Satellite Cultured Cells	--
24	chr3:159595800-159599200	Weak transcription	A549	lung
25	chr3:159596000-159598400	Weak transcription	NHEK	skin
26	chr3:159596000-159599200	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr3:159596000-159599400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr3:159596000-159599400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr3:159596000-159599400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr3:159596000-159600800	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr3:159596200-159598400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr3:159596200-159599200	Weak transcription	NH-A	brain
33	chr3:159596200-159599400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr3:159596200-159599600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr3:159596200-159613200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr3:159597000-159597800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr3:159597000-159598000	Enhancers	NHLF	lung
38	chr3:159597000-159598200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr3:159597000-159598200	Enhancers	Osteobl	bone
40	chr3:159597000-159598400	Enhancers	Colon Smooth Muscle	Colon
41	chr3:159597000-159599200	Enhancers	Skeletal Muscle Female	skeletal muscle
42	chr3:159597000-159600600	Enhancers	Cortex derived primary cultured neurospheres	brain
43	chr3:159597000-159600600	Enhancers	Brain Substantia Nigra	brain
44	chr3:159597000-159600800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr3:159597000-159601600	Enhancers	Skeletal Muscle Male	skeletal muscle
46	chr3:159597000-159601600	Enhancers	NHDF-Ad	bronchial
47	chr3:159597000-159605800	Enhancers	Brain Angular Gyrus	brain
48	chr3:159597200-159598200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr3:159597200-159598200	Active TSS	Right Atrium	heart
50	chr3:159597200-159598400	Enhancers	Rectal Smooth Muscle	rectum

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