Variant report

Variant	rs62270405
Chromosome Location	chr3:159594857-159594858
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:159588757..159590613-chr3:159592487..159595194,2	K562	blood:
2	chr3:159588196..159590257-chr3:159592678..159595194,2	K562	blood:

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs56986069	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs58957258	0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62270407	0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7651948	0.98[AMR][1000 genomes];1.00[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:71 , 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	chr3:159580200-159597600	Weak transcription	Spleen	Spleen
4	chr3:159583000-159600600	Weak transcription	Fetal Stomach	stomach
5	chr3:159583600-159597600	Weak transcription	Aorta	Aorta
6	chr3:159584000-159599200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr3:159585000-159598800	Weak transcription	Fetal Brain Female	brain
8	chr3:159585600-159597200	Weak transcription	Right Atrium	heart
9	chr3:159585600-159600600	Weak transcription	Fetal Muscle Trunk	muscle
10	chr3:159585800-159597600	Weak transcription	Fetal Muscle Leg	muscle
11	chr3:159588200-159605200	Weak transcription	Primary hematopoietic stem cells	blood
12	chr3:159589600-159596000	Enhancers	Brain Cingulate Gyrus	brain
13	chr3:159589800-159595800	Enhancers	Brain Inferior Temporal Lobe	brain
14	chr3:159590200-159595400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr3:159590200-159595800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr3:159590200-159599400	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr3:159590400-159595200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr3:159590400-159599200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr3:159590800-159595400	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr3:159590800-159597200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr3:159590800-159617600	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr3:159591000-159600800	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr3:159591200-159595400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr3:159591200-159595600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr3:159591200-159596400	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr3:159591400-159595200	Weak transcription	Stomach Smooth Muscle	stomach
27	chr3:159591400-159595200	Weak transcription	A549	lung
28	chr3:159591400-159595400	Weak transcription	HSMMtube	muscle
29	chr3:159591400-159595400	Weak transcription	NH-A	brain
30	chr3:159591400-159595400	Weak transcription	NHEK	skin
31	chr3:159591400-159595600	Weak transcription	HMEC	breast
32	chr3:159591400-159595800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr3:159591400-159597200	Weak transcription	Rectal Smooth Muscle	rectum
34	chr3:159591400-159599200	Weak transcription	HUVEC	blood vessel
35	chr3:159591600-159595400	Weak transcription	Osteobl	bone
36	chr3:159592400-159597200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr3:159592400-159599600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr3:159592600-159595200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr3:159592600-159595200	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr3:159592600-159597000	Weak transcription	NHDF-Ad	bronchial
41	chr3:159592600-159597200	Weak transcription	Fetal Heart	heart
42	chr3:159592600-159597600	Weak transcription	Psoas Muscle	Psoas
43	chr3:159592800-159595200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr3:159592800-159597000	Weak transcription	Colon Smooth Muscle	Colon
45	chr3:159593400-159595200	Strong transcription	HSMM	muscle
46	chr3:159593400-159595400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr3:159593400-159597000	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr3:159593400-159605400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr3:159593600-159595000	Genic enhancers	Left Ventricle	heart
50	chr3:159593600-159595000	Enhancers	Lung	lung

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