Variant report

Variant	rs56284069
Chromosome Location	chr2:39736509-39736510
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:39727590..39729545-chr2:39736063..39738935,2	K562	blood:
2	chr2:39730392..39733238-chr2:39734296..39737096,2	MCF-7	breast:

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs62136499	1.00[AMR][1000 genomes]
rs62136542	1.00[AMR][1000 genomes]
rs62137262	1.00[AMR][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	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	chr2:39731000-39741400	Enhancers	Fetal Stomach	stomach
8	chr2:39731200-39741400	Enhancers	Fetal Lung	lung
9	chr2:39731600-39738400	Weak transcription	Colonic Mucosa	Colon
10	chr2:39731800-39736600	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr2:39731800-39738400	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr2:39731800-39738400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr2:39732000-39736600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr2:39732200-39739600	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr2:39732400-39736600	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr2:39732400-39736800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr2:39732400-39736800	Weak transcription	HUVEC	blood vessel
18	chr2:39732400-39737000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr2:39732400-39738200	Weak transcription	Pancreas	Pancrea
20	chr2:39732400-39738200	Weak transcription	Spleen	Spleen
21	chr2:39732400-39740400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr2:39732400-39740600	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr2:39732400-39740800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr2:39732800-39737200	Weak transcription	Right Ventricle	heart
25	chr2:39732800-39741400	Enhancers	NHLF	lung
26	chr2:39733000-39738200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr2:39733000-39738400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr2:39733000-39739200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr2:39733000-39739200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr2:39733000-39743600	Weak transcription	Hela-S3	cervix
31	chr2:39733400-39737200	Weak transcription	Placenta	Placenta
32	chr2:39733600-39741400	Enhancers	Colon Smooth Muscle	Colon
33	chr2:39733800-39741600	Enhancers	Fetal Kidney	kidney
34	chr2:39734000-39736600	Weak transcription	A549	lung
35	chr2:39734200-39741400	Enhancers	Rectal Smooth Muscle	rectum
36	chr2:39734600-39745000	Enhancers	Adipose Nuclei	Adipose
37	chr2:39734600-39746000	Enhancers	Fetal Heart	heart
38	chr2:39735000-39744800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
39	chr2:39735400-39736800	Weak transcription	Duodenum Mucosa	Duodenum
40	chr2:39735400-39738400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr2:39735600-39736800	Weak transcription	Stomach Mucosa	stomach
42	chr2:39735600-39737200	Weak transcription	Fetal Muscle Trunk	muscle
43	chr2:39735600-39738200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr2:39735800-39738200	Weak transcription	Stomach Smooth Muscle	stomach
45	chr2:39736000-39738400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr2:39736000-39738800	Weak transcription	Osteobl	bone
47	chr2:39736000-39740000	Weak transcription	NH-A	brain
48	chr2:39736000-39740200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr2:39736200-39738400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr2:39736200-39738800	Weak transcription	Muscle Satellite Cultured Cells	--

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