Variant report

Variant	rs7717423
Chromosome Location	chr5:89819800-89819801
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:89768184..89771456-chr5:89815770..89820278,7	K562	blood:
2	chr5:89813272..89814876-chr5:89817714..89820209,2	MCF-7	breast:
3	chr5:89705158..89707867-chr5:89818448..89821040,2	K562	blood:
4	chr5:89768659..89773507-chr5:89817288..89819984,4	K562	blood:
5	chr5:89723104..89725297-chr5:89818896..89821836,2	K562	blood:
6	chr5:89703484..89707867-chr5:89816969..89821040,4	K562	blood:
7	chr5:89818873..89823263-chr5:89823614..89827101,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000153140	Chromatin interaction
ENSG00000176018	Chromatin interaction
ENSG00000255647	Chromatin interaction
ENSG00000176055	Chromatin interaction
ENSG00000113356	Chromatin interaction
ENSG00000164199	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10473936	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1047787	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10514327	0.87[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs10942597	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12655180	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13182165	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13185955	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1673378	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1700510	0.86[EUR][1000 genomes]
rs1812737	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3087840	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35407205	0.86[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs3805483	0.88[ASN][1000 genomes]
rs474800	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs499148	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs501640	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs552314	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs558809	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs587818	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs603015	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs603870	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs616379	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs618355	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs623761	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs648430	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs666659	0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs67376567	0.86[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs688956	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6897910	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7716979	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021142	chr5:89102893-89897826	Active TSS Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv537804	chr5:89102893-89897826	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv917025	chr5:89208994-89855436	Enhancers Active TSS Strong transcription Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
4	nsv432750	chr5:89410113-90137144	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
5	nsv432751	chr5:89457044-90090444	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
6	nsv529544	chr5:89523963-90412409	Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
7	nsv882365	chr5:89770768-89882618	Flanking Active TSS Genic enhancers Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7717423	LYSMD3	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:89773800-89824400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr5:89780600-89822600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr5:89793800-89823400	Weak transcription	Hela-S3	cervix
4	chr5:89797600-89824200	Weak transcription	Brain Angular Gyrus	brain
5	chr5:89802600-89824600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr5:89805600-89819800	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr5:89805600-89823200	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr5:89805800-89819800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr5:89808800-89822000	Weak transcription	Rectal Smooth Muscle	rectum
10	chr5:89809000-89824000	Weak transcription	Right Ventricle	heart
11	chr5:89809000-89824400	Weak transcription	Psoas Muscle	Psoas
12	chr5:89809200-89824600	Weak transcription	Spleen	Spleen
13	chr5:89809600-89822000	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr5:89810000-89822200	Weak transcription	Fetal Heart	heart
15	chr5:89810000-89822400	Weak transcription	Fetal Intestine Small	intestine
16	chr5:89810200-89822000	Weak transcription	Stomach Mucosa	stomach
17	chr5:89810400-89822000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr5:89810400-89822800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr5:89810600-89824400	Weak transcription	Lung	lung
20	chr5:89810800-89824400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr5:89810800-89824400	Weak transcription	Esophagus	oesophagus
22	chr5:89811000-89820400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr5:89811000-89824000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr5:89811000-89824400	Weak transcription	Pancreas	Pancrea
25	chr5:89811400-89821200	Strong transcription	Monocytes-CD14+_RO01746	blood
26	chr5:89812000-89821000	Strong transcription	Rectal Mucosa Donor 29	rectum
27	chr5:89812000-89821200	Strong transcription	Primary monocytes fromperipheralblood	blood
28	chr5:89812200-89822000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr5:89812600-89822400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr5:89813000-89823400	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr5:89813200-89820200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr5:89813400-89821200	Strong transcription	Duodenum Mucosa	Duodenum
33	chr5:89813400-89821200	Strong transcription	Fetal Intestine Large	intestine
34	chr5:89813400-89821600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr5:89813400-89822200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
36	chr5:89813400-89822800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr5:89813400-89824200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr5:89813400-89824400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr5:89813600-89821800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
40	chr5:89813600-89823400	Weak transcription	Brain Cingulate Gyrus	brain
41	chr5:89813800-89821200	Strong transcription	Primary B cells from cord blood	blood
42	chr5:89813800-89821200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr5:89813800-89821200	Strong transcription	Liver	Liver
44	chr5:89813800-89821200	Strong transcription	Rectal Mucosa Donor 31	rectum
45	chr5:89814000-89821200	Strong transcription	Primary B cells from peripheral blood	blood
46	chr5:89814000-89821200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr5:89814000-89822000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr5:89814200-89822600	Strong transcription	HUES48 Cell Line	embryonic stem cell
49	chr5:89814400-89821000	Strong transcription	Duodenum Smooth Muscle	Duodenum
50	chr5:89814400-89821200	Strong transcription	Primary neutrophils fromperipheralblood	blood

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