Variant report

Variant	rs62346590
Chromosome Location	chr5:14308415-14308416
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11133785	0.87[EUR][1000 genomes]
rs16903375	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs16903389	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1697168	0.95[EUR][1000 genomes]
rs1697170	0.93[EUR][1000 genomes]
rs2463803	0.93[EUR][1000 genomes]
rs58383010	1.00[EUR][1000 genomes]
rs60768136	0.87[EUR][1000 genomes]
rs62344973	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62344976	0.87[EUR][1000 genomes]
rs62346588	0.95[EUR][1000 genomes]
rs6879505	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6887831	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs697558	0.95[EUR][1000 genomes]
rs697559	0.95[EUR][1000 genomes]
rs7710935	0.87[EUR][1000 genomes]
rs7731443	0.87[EUR][1000 genomes]
rs7732548	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs773764	0.95[EUR][1000 genomes]
rs773765	0.95[EUR][1000 genomes]
rs773766	0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:14270400-14313600	Weak transcription	Small Intestine	intestine
2	chr5:14278000-14341200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr5:14283000-14319400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr5:14286200-14320400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr5:14286400-14321000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
6	chr5:14286600-14314400	Strong transcription	HUES6 Cell Line	embryonic stem cell
7	chr5:14287000-14315000	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr5:14288000-14324000	Strong transcription	Primary B cells from peripheral blood	blood
9	chr5:14290800-14321200	Strong transcription	Primary B cells from cord blood	blood
10	chr5:14291400-14316600	Weak transcription	Thymus	Thymus
11	chr5:14295600-14313400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr5:14297800-14316600	Weak transcription	Brain Substantia Nigra	brain
13	chr5:14298000-14308600	Weak transcription	Rectal Smooth Muscle	rectum
14	chr5:14298000-14316600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr5:14298000-14316600	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr5:14298200-14308800	Weak transcription	Gastric	stomach
17	chr5:14298400-14309400	Weak transcription	Fetal Brain Male	brain
18	chr5:14299000-14314400	Strong transcription	Adipose Nuclei	Adipose
19	chr5:14299200-14315400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
20	chr5:14299600-14308600	Weak transcription	Colon Smooth Muscle	Colon
21	chr5:14300000-14311600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr5:14300000-14313200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr5:14300000-14316800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr5:14300400-14310200	Weak transcription	Fetal Thymus	thymus
25	chr5:14301200-14314000	Strong transcription	HepG2	liver
26	chr5:14301800-14310400	Weak transcription	Spleen	Spleen
27	chr5:14302000-14310400	Weak transcription	Fetal Lung	lung
28	chr5:14302000-14313200	Weak transcription	Psoas Muscle	Psoas
29	chr5:14303000-14311400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr5:14303200-14308600	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr5:14303400-14312200	Strong transcription	Fetal Stomach	stomach
32	chr5:14303600-14308600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr5:14303600-14309000	Strong transcription	Rectal Mucosa Donor 31	rectum
34	chr5:14303600-14312000	Strong transcription	Fetal Intestine Small	intestine
35	chr5:14303600-14312200	Strong transcription	Sigmoid Colon	Sigmoid Colon
36	chr5:14303600-14314400	Strong transcription	GM12878-XiMat	blood
37	chr5:14303800-14312200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr5:14303800-14312400	Strong transcription	Duodenum Mucosa	Duodenum
39	chr5:14303800-14314400	Strong transcription	Liver	Liver
40	chr5:14303800-14323600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr5:14304000-14308800	Weak transcription	Right Ventricle	heart
42	chr5:14304000-14311600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr5:14304000-14323800	Strong transcription	Rectal Mucosa Donor 29	rectum
44	chr5:14304200-14313200	Strong transcription	Fetal Muscle Leg	muscle
45	chr5:14304200-14319400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
46	chr5:14304200-14321800	Strong transcription	HUES64 Cell Line	embryonic stem cell
47	chr5:14304600-14308600	Strong transcription	Ovary	ovary
48	chr5:14304800-14311200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr5:14305000-14315000	Strong transcription	HMEC	breast
50	chr5:14305400-14326800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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