Variant report

Variant	rs57521726
Chromosome Location	chr5:59984897-59984898
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:59982146..59984136-chr5:59984712..59987342,2	K562	blood:
2	chr5:59982671..59990838-chr5:59991133..59997951,12	MCF-7	breast:
3	chr5:59984165..59985932-chr5:59998391..60001093,2	K562	blood:
4	chr5:59982948..59985839-chr5:59989149..59990796,3	K562	blood:
5	chr5:59981395..59986593-chr5:59993706..59998197,7	K562	blood:

Variant related genes	Relation type
ENSG00000035499	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10057004	0.81[ASN][1000 genomes]
rs10805370	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10939857	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10939860	0.80[EUR][1000 genomes]
rs10939862	0.81[EUR][1000 genomes]
rs10939863	0.90[ASN][1000 genomes]
rs11739209	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11745077	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11750609	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12186391	0.80[EUR][1000 genomes]
rs12514253	0.81[EUR][1000 genomes]
rs12515025	0.80[EUR][1000 genomes]
rs12522801	0.82[EUR][1000 genomes]
rs12655515	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1379114	0.81[EUR][1000 genomes]
rs1379115	0.81[EUR][1000 genomes]
rs1824120	0.81[EUR][1000 genomes]
rs1870014	0.80[EUR][1000 genomes]
rs2085412	0.83[ASN][1000 genomes]
rs2409792	0.81[EUR][1000 genomes]
rs34395679	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4235480	0.81[ASN][1000 genomes]
rs4307050	0.84[ASN][1000 genomes]
rs4353978	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4370226	0.91[ASN][1000 genomes]
rs4538567	0.80[EUR][1000 genomes]
rs4700385	0.81[ASN][1000 genomes]
rs55854817	0.86[EUR][1000 genomes]
rs6449483	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6449484	0.91[ASN][1000 genomes]
rs6449485	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6449489	0.85[ASN][1000 genomes]
rs6874072	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs755077	0.81[EUR][1000 genomes]
rs7704338	1.00[ASN][1000 genomes]
rs7707698	0.80[EUR][1000 genomes]
rs7719611	1.00[ASN][1000 genomes]
rs7719726	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7736518	0.80[EUR][1000 genomes]
rs897672	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9686489	0.80[EUR][1000 genomes]
rs9942410	0.82[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	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
2	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
3	nsv462198	chr5:59969015-60116613	Strong transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv598298	chr5:59969015-60116613	ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
5	nsv1023403	chr5:59969534-60079822	Flanking Active TSS Active TSS ZNF genes & repeats Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
6	nsv4850	chr5:59976186-60039810	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
7	nsv968833	chr5:59976941-59986267	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs57521726	DEPDC1B	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:59962600-59985600	Weak transcription	Primary monocytes fromperipheralblood	blood
2	chr5:59962600-59986800	Weak transcription	Fetal Stomach	stomach
3	chr5:59962600-59990000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr5:59966000-59988800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr5:59969600-59994800	Weak transcription	Fetal Lung	lung
6	chr5:59971000-59993800	Weak transcription	NHLF	lung
7	chr5:59971000-59994000	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr5:59971000-59994200	Weak transcription	NH-A	brain
9	chr5:59973200-59985400	Weak transcription	HMEC	breast
10	chr5:59973600-59986000	Weak transcription	Primary B cells from cord blood	blood
11	chr5:59973800-59986600	Weak transcription	Osteobl	bone
12	chr5:59974200-59994200	Weak transcription	Duodenum Mucosa	Duodenum
13	chr5:59974400-59993600	Weak transcription	Hela-S3	cervix
14	chr5:59977200-59991000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr5:59977200-59991200	Weak transcription	Pancreas	Pancrea
16	chr5:59977200-59994800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr5:59979200-59985000	Weak transcription	Fetal Brain Female	brain
18	chr5:59980200-59995200	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr5:59980800-59985000	Enhancers	Fetal Intestine Large	intestine
20	chr5:59981800-59994200	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr5:59982400-59993600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr5:59982600-59994800	Weak transcription	Fetal Muscle Leg	muscle
23	chr5:59982800-59991000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr5:59982800-59992400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr5:59982800-59993800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr5:59982800-59994800	Weak transcription	Primary neutrophils fromperipheralblood	blood
27	chr5:59982800-59994800	Weak transcription	Primary hematopoietic stem cells	blood
28	chr5:59983000-59986400	Weak transcription	Monocytes-CD14+_RO01746	blood
29	chr5:59983000-59987000	Weak transcription	Fetal Muscle Trunk	muscle
30	chr5:59983000-59990000	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr5:59983000-59990200	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr5:59983000-59990800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr5:59983000-59991000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr5:59983000-59991000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr5:59983000-59991200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr5:59983000-59992800	Weak transcription	NHEK	skin
37	chr5:59983000-59994000	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr5:59983000-59994000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr5:59983000-59994000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr5:59983000-59994200	Weak transcription	Thymus	Thymus
41	chr5:59983000-59994600	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr5:59983000-59994800	Weak transcription	Fetal Thymus	thymus
43	chr5:59983000-59994800	Weak transcription	HSMM	muscle
44	chr5:59983200-59987400	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr5:59983200-59987800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr5:59983200-59991000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr5:59983200-59993800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr5:59983200-59993800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr5:59983400-59985000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
50	chr5:59983600-59986400	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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