Variant report

Variant	rs13420425
Chromosome Location	chr2:39735813-39735814
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	chr2:39723509..39726047-chr2:39733259..39735822,2	K562	blood:
2	chr2:39730392..39733238-chr2:39734296..39737096,2	MCF-7	breast:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs17023696	0.82[JPT][hapmap]
rs17531732	0.82[ASN][1000 genomes]
rs2111383	0.82[JPT][hapmap]
rs2287088	0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4670940	1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs58177306	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs59109595	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7577097	0.89[CHD][hapmap];0.82[JPT][hapmap]

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	nsv997934	chr2:39473548-39751029	Enhancers Strong transcription ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv833858	chr2:39684483-39856498	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:39712400-39748600	Weak transcription	Aorta	Aorta
2	chr2:39723400-39738400	Weak transcription	Lung	lung
3	chr2:39724800-39750600	Weak transcription	Gastric	stomach
4	chr2:39728400-39736800	Weak transcription	K562	blood
5	chr2:39729600-39737000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr2:39730000-39737800	Enhancers	NHDF-Ad	bronchial
7	chr2:39730400-39736400	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr2:39731000-39741400	Enhancers	Fetal Stomach	stomach
9	chr2:39731200-39741400	Enhancers	Fetal Lung	lung
10	chr2:39731600-39738400	Weak transcription	Colonic Mucosa	Colon
11	chr2:39731800-39736600	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr2:39731800-39738400	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr2:39731800-39738400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr2:39732000-39736400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr2:39732000-39736400	Weak transcription	Fetal Muscle Leg	muscle
16	chr2:39732000-39736600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr2:39732200-39736200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr2:39732200-39739600	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr2:39732400-39736400	Weak transcription	Primary hematopoietic stem cells	blood
20	chr2:39732400-39736400	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr2:39732400-39736600	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr2:39732400-39736800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr2:39732400-39736800	Weak transcription	HUVEC	blood vessel
24	chr2:39732400-39737000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr2:39732400-39738200	Weak transcription	Pancreas	Pancrea
26	chr2:39732400-39738200	Weak transcription	Spleen	Spleen
27	chr2:39732400-39740400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr2:39732400-39740600	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr2:39732400-39740800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr2:39732800-39736400	Weak transcription	Liver	Liver
31	chr2:39732800-39736400	Weak transcription	Fetal Intestine Large	intestine
32	chr2:39732800-39736400	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr2:39732800-39736400	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr2:39732800-39737200	Weak transcription	Right Ventricle	heart
35	chr2:39732800-39741400	Enhancers	NHLF	lung
36	chr2:39733000-39736400	Weak transcription	Fetal Intestine Small	intestine
37	chr2:39733000-39738200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr2:39733000-39738400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr2:39733000-39739200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr2:39733000-39739200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr2:39733000-39743600	Weak transcription	Hela-S3	cervix
42	chr2:39733200-39736400	Weak transcription	Left Ventricle	heart
43	chr2:39733200-39736400	Weak transcription	Psoas Muscle	Psoas
44	chr2:39733200-39736400	Weak transcription	Right Atrium	heart
45	chr2:39733400-39737200	Weak transcription	Placenta	Placenta
46	chr2:39733600-39736000	Enhancers	HSMMtube	muscle
47	chr2:39733600-39741400	Enhancers	Colon Smooth Muscle	Colon
48	chr2:39733800-39741600	Enhancers	Fetal Kidney	kidney
49	chr2:39734000-39736600	Weak transcription	A549	lung
50	chr2:39734200-39736400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

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