Variant report

Variant	rs62139715
Chromosome Location	chr2:47647628-47647629
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs17217828	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs17224199	1.00[EUR][1000 genomes]
rs62138457	0.85[EUR][1000 genomes]
rs62139662	0.81[EUR][1000 genomes]
rs62139666	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817517	chr2:46819371-47715140	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
2	nsv1004828	chr2:47056849-47814482	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
3	nsv531348	chr2:47433147-47827310	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
4	nsv999576	chr2:47506116-47773960	Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers 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 miRNA target site	43 gene(s)	inside rSNPs	diseases
5	nsv527823	chr2:47645249-47709704	Genic enhancers Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47631400-47657400	Weak transcription	HSMMtube	muscle
2	chr2:47631400-47697000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr2:47631400-47714400	Weak transcription	Right Ventricle	heart
4	chr2:47631600-47657400	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr2:47631800-47649000	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr2:47631800-47649200	Weak transcription	NHEK	skin
7	chr2:47631800-47650000	Weak transcription	NHLF	lung
8	chr2:47631800-47657000	Weak transcription	Primary neutrophils fromperipheralblood	blood
9	chr2:47631800-47657400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr2:47631800-47657400	Weak transcription	Brain Angular Gyrus	brain
11	chr2:47631800-47657400	Weak transcription	Brain Hippocampus Middle	brain
12	chr2:47631800-47657400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr2:47631800-47657400	Weak transcription	Small Intestine	intestine
14	chr2:47631800-47657600	Weak transcription	Rectal Smooth Muscle	rectum
15	chr2:47631800-47659400	Weak transcription	Right Atrium	heart
16	chr2:47631800-47672000	Weak transcription	Pancreas	Pancrea
17	chr2:47631800-47696600	Weak transcription	Esophagus	oesophagus
18	chr2:47631800-47700000	Weak transcription	Colonic Mucosa	Colon
19	chr2:47631800-47704200	Weak transcription	Psoas Muscle	Psoas
20	chr2:47632600-47659600	Strong transcription	Fetal Thymus	thymus
21	chr2:47632800-47649200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr2:47632800-47659600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
23	chr2:47633000-47648000	Strong transcription	Fetal Muscle Leg	muscle
24	chr2:47633000-47659600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr2:47633000-47659600	Strong transcription	Fetal Stomach	stomach
26	chr2:47633000-47714000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr2:47634000-47654200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr2:47634600-47647800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr2:47634600-47657600	Strong transcription	HUES48 Cell Line	embryonic stem cell
30	chr2:47634600-47657600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr2:47634600-47657800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr2:47634800-47648400	Strong transcription	H9 Cell Line	embryonic stem cell
33	chr2:47634800-47657000	Strong transcription	HUES64 Cell Line	embryonic stem cell
34	chr2:47634800-47658800	Strong transcription	HUES6 Cell Line	embryonic stem cell
35	chr2:47634800-47659600	Strong transcription	Dnd41	blood
36	chr2:47635000-47657600	Strong transcription	H1 Cell Line	embryonic stem cell
37	chr2:47635000-47657600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
38	chr2:47635200-47652200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr2:47635600-47648800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr2:47635600-47657800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
41	chr2:47636800-47650000	Strong transcription	Cortex derived primary cultured neurospheres	brain
42	chr2:47636800-47659600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr2:47637000-47648200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr2:47637000-47653000	Strong transcription	Primary T helper cells fromperipheralblood	blood
45	chr2:47637200-47650200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr2:47637200-47657600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr2:47637400-47649400	Strong transcription	Fetal Muscle Trunk	muscle
48	chr2:47637400-47650400	Strong transcription	Primary T cells from cord blood	blood
49	chr2:47637600-47658000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr2:47637800-47657600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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