Variant report

Variant	rs62346588
Chromosome Location	chr5:14296424-14296425
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11133785	0.83[EUR][1000 genomes]
rs16903375	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16903389	0.95[EUR][1000 genomes]
rs1697168	1.00[EUR][1000 genomes]
rs1697170	0.97[EUR][1000 genomes]
rs2463803	0.97[EUR][1000 genomes]
rs58383010	0.95[EUR][1000 genomes]
rs60768136	0.83[EUR][1000 genomes]
rs62344973	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62344976	0.83[EUR][1000 genomes]
rs62346590	0.95[EUR][1000 genomes]
rs6879505	0.95[EUR][1000 genomes]
rs6887831	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs696290	0.83[EUR][1000 genomes]
rs697558	1.00[EUR][1000 genomes]
rs697559	1.00[EUR][1000 genomes]
rs7710935	0.83[EUR][1000 genomes]
rs7731443	0.83[EUR][1000 genomes]
rs7732548	1.00[EUR][1000 genomes]
rs773764	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs773765	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs773766	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830209	chr5:14154989-14301758	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv948355	chr5:14160447-14395478	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	nsv1026914	chr5:14237782-14751588	Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv830210	chr5:14255039-14431552	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:14270400-14305200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr5:14270400-14313600	Weak transcription	Small Intestine	intestine
3	chr5:14278000-14341200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr5:14283000-14319400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr5:14285800-14304200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr5:14286200-14302200	Strong transcription	Rectal Mucosa Donor 31	rectum
7	chr5:14286200-14320400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr5:14286400-14302000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr5:14286400-14321000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
10	chr5:14286600-14302200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr5:14286600-14314400	Strong transcription	HUES6 Cell Line	embryonic stem cell
12	chr5:14286800-14301800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr5:14286800-14301800	Strong transcription	Liver	Liver
14	chr5:14287000-14297800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr5:14287000-14302000	Strong transcription	Fetal Stomach	stomach
16	chr5:14287000-14315000	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr5:14287800-14298200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr5:14287800-14298600	Weak transcription	Primary T cells from cord blood	blood
19	chr5:14288000-14324000	Strong transcription	Primary B cells from peripheral blood	blood
20	chr5:14288600-14301600	Strong transcription	GM12878-XiMat	blood
21	chr5:14288800-14300600	Strong transcription	Rectal Mucosa Donor 29	rectum
22	chr5:14289400-14302800	Strong transcription	HUES64 Cell Line	embryonic stem cell
23	chr5:14290000-14296600	Strong transcription	NHDF-Ad	bronchial
24	chr5:14290000-14302800	Strong transcription	Fetal Intestine Large	intestine
25	chr5:14290200-14297600	Strong transcription	A549	lung
26	chr5:14290800-14321200	Strong transcription	Primary B cells from cord blood	blood
27	chr5:14291400-14297200	Weak transcription	Esophagus	oesophagus
28	chr5:14291400-14316600	Weak transcription	Thymus	Thymus
29	chr5:14291600-14297000	Weak transcription	Fetal Thymus	thymus
30	chr5:14291600-14297200	Weak transcription	Colonic Mucosa	Colon
31	chr5:14291600-14297800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr5:14291600-14308400	Weak transcription	Fetal Kidney	kidney
33	chr5:14292400-14302000	Strong transcription	Primary monocytes fromperipheralblood	blood
34	chr5:14293000-14300400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr5:14293200-14299400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr5:14293400-14296600	Strong transcription	Muscle Satellite Cultured Cells	--
37	chr5:14293600-14303600	Strong transcription	HSMM	muscle
38	chr5:14293800-14296600	Weak transcription	Colon Smooth Muscle	Colon
39	chr5:14293800-14296800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr5:14293800-14297200	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr5:14293800-14297200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr5:14293800-14297200	Weak transcription	Aorta	Aorta
43	chr5:14293800-14297200	Strong transcription	Fetal Muscle Trunk	muscle
44	chr5:14293800-14297200	Weak transcription	Gastric	stomach
45	chr5:14293800-14297200	Weak transcription	Pancreas	Pancrea
46	chr5:14293800-14297200	Weak transcription	Right Ventricle	heart
47	chr5:14293800-14299000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
48	chr5:14293800-14299200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr5:14293800-14303000	Strong transcription	HSMMtube	muscle
50	chr5:14293800-14304600	Weak transcription	H9 Cell Line	embryonic stem cell

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