Variant report

Variant	rs1867702
Chromosome Location	chr5:59897983-59897984
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10939857	0.82[EUR][1000 genomes]
rs11739209	0.82[EUR][1000 genomes]
rs11739724	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11740327	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11745077	0.83[EUR][1000 genomes]
rs11745627	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11747927	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11948543	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11951503	0.81[ASN][1000 genomes]
rs11951950	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11952735	0.81[ASN][1000 genomes]
rs11959922	0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1445852	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1562235	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1816899	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2061250	0.83[ASN][1000 genomes]
rs249070	0.84[ASN][1000 genomes]
rs2591636	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs286148	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs286153	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs286154	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs286155	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2898287	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34395679	0.83[EUR][1000 genomes]
rs3857236	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3958943	0.88[ASN][1000 genomes]
rs4353978	0.81[EUR][1000 genomes]
rs4538567	0.84[EUR][1000 genomes]
rs4699959	0.80[ASN][1000 genomes]
rs4700378	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4700379	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4700380	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4700381	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs5012862	0.84[ASN][1000 genomes]
rs55768631	0.88[ASN][1000 genomes]
rs56137970	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs56166952	0.84[ASN][1000 genomes]
rs62372964	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62373024	0.80[ASN][1000 genomes]
rs6896942	0.82[ASN][1000 genomes]
rs7719726	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	nsv1025856	chr5:59188419-59928852	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv598288	chr5:59627555-60003460	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	nsv1018614	chr5:59708223-59910308	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1867702	DEPDC1B	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:59873000-59908600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr5:59873000-59908800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr5:59873200-59911000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr5:59875400-59899400	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr5:59875400-59911000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr5:59884800-59909200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr5:59887600-59925800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr5:59889000-59900800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr5:59889200-59900600	Weak transcription	Fetal Muscle Trunk	muscle
10	chr5:59889200-59900800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr5:59889400-59911000	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr5:59890200-59911000	Weak transcription	Fetal Intestine Small	intestine
13	chr5:59890400-59901600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr5:59891000-59911200	Weak transcription	Fetal Intestine Large	intestine
15	chr5:59891200-59909200	Weak transcription	HMEC	breast
16	chr5:59891200-59926200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr5:59892000-59912200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr5:59892200-59898600	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr5:59892200-59898600	Weak transcription	K562	blood
20	chr5:59893000-59911000	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr5:59894000-59900400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr5:59894000-59906000	Weak transcription	Osteobl	bone
23	chr5:59894400-59898400	Weak transcription	Primary monocytes fromperipheralblood	blood
24	chr5:59894400-59926600	Weak transcription	Thymus	Thymus
25	chr5:59894800-59933600	Weak transcription	Hela-S3	cervix
26	chr5:59895000-59898600	Weak transcription	Duodenum Mucosa	Duodenum
27	chr5:59895200-59898400	Weak transcription	GM12878-XiMat	blood
28	chr5:59895200-59898600	Weak transcription	Primary hematopoietic stem cells	blood
29	chr5:59895800-59899200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr5:59895800-59899600	Strong transcription	HUES48 Cell Line	embryonic stem cell
31	chr5:59896400-59898400	Weak transcription	Fetal Thymus	thymus
32	chr5:59896400-59898800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr5:59896800-59898400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr5:59896800-59898600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr5:59896800-59898600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr5:59896800-59899400	Strong transcription	Dnd41	blood
37	chr5:59896800-59900200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr5:59897200-59898400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
39	chr5:59897200-59899000	Weak transcription	Placenta	Placenta
40	chr5:59897200-59900200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr5:59897400-59898400	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr5:59897600-59898000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr5:59897600-59898600	Weak transcription	HepG2	liver
44	chr5:59897600-59902200	Strong transcription	Monocytes-CD14+_RO01746	blood
45	chr5:59897600-59907000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr5:59897800-59899000	Strong transcription	Primary neutrophils fromperipheralblood	blood

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