Variant report

Variant	rs286156
Chromosome Location	chr5:59922709-59922710
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:59921446..59924315-chr5:59925666..59927277,2	K562	blood:

Variant related genes	Relation type
ENSG00000251303	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10939855	0.81[ASN][1000 genomes]
rs10939856	0.82[ASN][1000 genomes]
rs11739724	0.82[ASN][1000 genomes]
rs11948543	0.91[ASN][1000 genomes]
rs11951503	0.91[ASN][1000 genomes]
rs11951950	0.85[ASN][1000 genomes]
rs11952735	0.91[ASN][1000 genomes]
rs11956023	0.88[ASN][1000 genomes]
rs11959922	0.92[ASN][1000 genomes]
rs1379116	0.91[ASN][1000 genomes]
rs1379117	0.91[ASN][1000 genomes]
rs1562235	0.85[ASN][1000 genomes]
rs187481	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2061250	0.89[ASN][1000 genomes]
rs206789	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2198865	0.90[ASN][1000 genomes]
rs2409791	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs249070	0.84[ASN][1000 genomes]
rs2591636	0.89[ASN][1000 genomes]
rs286153	0.94[ASN][1000 genomes]
rs286155	0.94[ASN][1000 genomes]
rs286158	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2898287	0.85[ASN][1000 genomes]
rs3857236	0.89[ASN][1000 genomes]
rs3958943	0.84[ASN][1000 genomes]
rs4326096	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4515250	0.84[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs4699959	0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4700378	0.81[ASN][1000 genomes]
rs4700379	0.83[ASN][1000 genomes]
rs4700380	0.89[ASN][1000 genomes]
rs4700381	0.86[ASN][1000 genomes]
rs5012862	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55720622	0.81[ASN][1000 genomes]
rs55768631	0.84[ASN][1000 genomes]
rs56137970	0.85[ASN][1000 genomes]
rs56166952	0.89[ASN][1000 genomes]
rs56191602	0.90[ASN][1000 genomes]
rs59155887	0.89[ASN][1000 genomes]
rs62372964	0.86[ASN][1000 genomes]
rs6449478	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6449480	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6877561	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6896942	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7725028	0.89[AMR][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	nsv492277	chr5:59905195-60180834	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh 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	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs286156	DEPDC1B	Cis_1M	lymphoblastoid	RTeQTL
rs286156	ELOVL7	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:59887600-59925800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr5:59891200-59926200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr5:59894400-59926600	Weak transcription	Thymus	Thymus
4	chr5:59894800-59933600	Weak transcription	Hela-S3	cervix
5	chr5:59899400-59928000	Weak transcription	Duodenum Mucosa	Duodenum
6	chr5:59899800-59924800	Weak transcription	HepG2	liver
7	chr5:59902200-59924800	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr5:59909200-59927000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr5:59909400-59928800	Weak transcription	HMEC	breast
10	chr5:59910000-59925000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr5:59910000-59925000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr5:59911800-59923600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr5:59911800-59924200	Weak transcription	Placenta	Placenta
14	chr5:59911800-59926000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr5:59911800-59926000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr5:59911800-59926200	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr5:59912000-59924600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr5:59915800-59926200	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr5:59916200-59924800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr5:59917800-59924600	Weak transcription	Fetal Thymus	thymus
21	chr5:59918600-59924800	Weak transcription	Fetal Intestine Large	intestine
22	chr5:59919800-59924800	Weak transcription	A549	lung
23	chr5:59920400-59939800	Weak transcription	HSMM	muscle
24	chr5:59920600-59925000	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr5:59920600-59947800	Weak transcription	HUVEC	blood vessel
26	chr5:59921200-59924800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr5:59921400-59922800	Strong transcription	HUES64 Cell Line	embryonic stem cell
28	chr5:59921400-59924800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr5:59921600-59925000	Weak transcription	Dnd41	blood
30	chr5:59921600-59925800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr5:59921600-59926400	Weak transcription	Primary hematopoietic stem cells	blood
32	chr5:59922000-59930200	Strong transcription	HUES48 Cell Line	embryonic stem cell
33	chr5:59922200-59923400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr5:59922200-59926200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr5:59922600-59924400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr5:59922600-59926800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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