Variant report

Variant	rs62345012
Chromosome Location	chr5:14379945-14379946
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10866506	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10866507	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11133785	0.81[EUR][1000 genomes]
rs11949756	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11950000	0.89[EUR][1000 genomes]
rs11959397	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12109453	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12109756	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12109880	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12110161	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12110267	0.91[EUR][1000 genomes]
rs16903421	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs16903423	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs16903428	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs16903434	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16903453	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs16903460	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs16903464	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35373258	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs56689214	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs57017859	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs57640930	0.89[EUR][1000 genomes]
rs59405120	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60738268	0.91[EUR][1000 genomes]
rs60768136	0.81[EUR][1000 genomes]
rs60892841	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs61059406	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs61469842	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62344976	0.81[EUR][1000 genomes]
rs62344979	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62344981	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62344983	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62345009	0.86[EUR][1000 genomes]
rs62345015	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs66554336	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73061636	0.89[EUR][1000 genomes]
rs7706484	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7710935	0.81[EUR][1000 genomes]
rs7715916	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7731443	0.81[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	chr5:14351600-14399400	Weak transcription	Primary neutrophils fromperipheralblood	blood
2	chr5:14353600-14385200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr5:14353600-14398800	Strong transcription	Rectal Mucosa Donor 29	rectum
4	chr5:14354600-14402400	Strong transcription	Liver	Liver
5	chr5:14355000-14392400	Strong transcription	HSMMtube	muscle
6	chr5:14355000-14398800	Strong transcription	Rectal Mucosa Donor 31	rectum
7	chr5:14357600-14422000	Weak transcription	Stomach Mucosa	stomach
8	chr5:14357800-14385000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr5:14357800-14389800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr5:14358000-14385800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr5:14358000-14389800	Strong transcription	Adipose Nuclei	Adipose
12	chr5:14358200-14391600	Strong transcription	Primary B cells from cord blood	blood
13	chr5:14358400-14385600	Strong transcription	Fetal Intestine Large	intestine
14	chr5:14358400-14392000	Strong transcription	Fetal Muscle Leg	muscle
15	chr5:14358600-14392600	Strong transcription	Duodenum Smooth Muscle	Duodenum
16	chr5:14360000-14398400	Strong transcription	Fetal Muscle Trunk	muscle
17	chr5:14363600-14386000	Strong transcription	Skeletal Muscle Female	skeletal muscle
18	chr5:14363600-14396000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr5:14363800-14380000	Strong transcription	Placenta	Placenta
20	chr5:14363800-14380400	Strong transcription	Hela-S3	cervix
21	chr5:14363800-14383200	Strong transcription	Colonic Mucosa	Colon
22	chr5:14363800-14383800	Strong transcription	HUVEC	blood vessel
23	chr5:14363800-14385600	Strong transcription	A549	lung
24	chr5:14363800-14430600	Strong transcription	Primary monocytes fromperipheralblood	blood
25	chr5:14363800-14430600	Strong transcription	Monocytes-CD14+_RO01746	blood
26	chr5:14366000-14392400	Strong transcription	HSMM	muscle
27	chr5:14366600-14380000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr5:14366600-14385600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr5:14366600-14391600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr5:14366800-14403200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
31	chr5:14367400-14399800	Strong transcription	Left Ventricle	heart
32	chr5:14369000-14381200	Weak transcription	Fetal Kidney	kidney
33	chr5:14371200-14388000	Weak transcription	Small Intestine	intestine
34	chr5:14372400-14398600	Strong transcription	Sigmoid Colon	Sigmoid Colon
35	chr5:14372600-14389800	Weak transcription	Fetal Brain Male	brain
36	chr5:14373200-14383400	Strong transcription	Fetal Lung	lung
37	chr5:14373800-14385400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr5:14373800-14388600	Weak transcription	Fetal Heart	heart
39	chr5:14374200-14383600	Strong transcription	Primary hematopoietic stem cells	blood
40	chr5:14374400-14385600	Strong transcription	HUES64 Cell Line	embryonic stem cell
41	chr5:14374400-14391800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
42	chr5:14374400-14392000	Strong transcription	NHEK	skin
43	chr5:14374400-14397000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr5:14374400-14399600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr5:14374600-14392200	Strong transcription	HMEC	breast
46	chr5:14375000-14380000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
47	chr5:14375000-14382400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr5:14375200-14380000	Strong transcription	GM12878-XiMat	blood
49	chr5:14375400-14386200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr5:14375400-14387000	Strong transcription	NH-A	brain

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