Variant report

Variant	rs2615615
Chromosome Location	chr19:42808150-42808151
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAZ	chr19:42808136-42808211	HepG2	liver:	n/a	n/a
2	USF1	chr19:42808103-42808329	HepG2	liver:	n/a	chr19:42808206-42808217 chr19:42808244-42808255
3	JUND	chr19:42805813-42808231	SK-N-SH	brain:	n/a	chr19:42806960-42806969 chr19:42806957-42806966 chr19:42806238-42806247 chr19:42807421-42807430 chr19:42806959-42806968
4	MYC	chr19:42805632-42808445	A549	lung:	n/a	chr19:42807332-42807341 chr19:42806957-42806967

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:42806642..42809220-chr19:42829976..42831705,2	K562	blood:
2	chr19:42579835..42581809-chr19:42805426..42808329,2	K562	blood:
3	chr19:42805304..42808319-chr19:42899510..42903078,3	K562	blood:
4	chr19:42745670..42748955-chr19:42805967..42808847,6	K562	blood:
5	chr19:42746221..42749028-chr19:42806673..42809269,4	K562	blood:
6	chr19:42804082..42810862-chr19:42813351..42818872,10	K562	blood:
7	chr19:42806459..42808702-chr19:42827247..42830028,2	K562	blood:
8	chr19:42786948..42794333-chr19:42803465..42809501,23	K562	blood:
9	chr19:42787763..42791073-chr19:42804241..42808628,6	MCF-7	breast:
10	chr19:42804822..42808346-chr19:42815036..42819132,8	MCF-7	breast:
11	chr19:42757687..42760394-chr19:42806453..42809186,2	MCF-7	breast:
12	chr19:42745110..42750037-chr19:42804255..42809210,7	MCF-7	breast:
13	chr19:42804664..42808164-chr19:42828676..42831528,3	MCF-7	breast:
14	chr19:42387685..42389812-chr19:42806888..42808559,2	K562	blood:
15	chr19:42804981..42810862-chr19:42813585..42819261,9	K562	blood:
16	chr19:42771105..42773106-chr19:42805155..42808634,5	K562	blood:

No data

Variant related genes	Relation type
PAFAH1B3	TF binding region
PRR19	TF binding region
ENSG00000268643	Chromatin interaction
ENSG00000105732	Chromatin interaction
ENSG00000105723	Chromatin interaction
ENSG00000079432	Chromatin interaction
ENSG00000213904	Chromatin interaction
ENSG00000105722	Chromatin interaction
ENSG00000076928	Chromatin interaction
ENSG00000167619	Chromatin interaction
ENSG00000105429	Chromatin interaction
ENSG00000204957	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1206029	0.82[ASW][hapmap];0.87[YRI][hapmap]
rs1206030	0.87[AFR][1000 genomes]
rs1206033	1.00[ASW][hapmap];1.00[YRI][hapmap]
rs1206036	1.00[ASW][hapmap];0.88[LWK][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs1206037	0.91[AFR][1000 genomes]
rs1206039	0.83[AFR][1000 genomes]
rs1654624	1.00[ASW][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs1685564	0.82[ASW][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes]
rs1685565	1.00[YRI][hapmap]
rs1685566	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs851291	0.87[LWK][hapmap];0.86[AFR][1000 genomes]
rs851295	1.00[ASW][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs851299	0.87[LWK][hapmap]
rs851611	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs851614	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv522854	chr19:42120283-42931004	Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
2	nsv520239	chr19:42357455-42931004	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
3	nsv911782	chr19:42514712-42931004	Bivalent/Poised TSS Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
4	nsv1055554	chr19:42619671-42821642	Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	53 gene(s)	inside rSNPs	diseases
5	nsv526186	chr19:42676481-43203507	Enhancers Bivalent Enhancer Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	62 gene(s)	inside rSNPs	diseases
6	esv2422471	chr19:42733141-43669485	Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	70 gene(s)	inside rSNPs	diseases
7	nsv833834	chr19:42736444-42835027	Genic enhancers Flanking Active TSS Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	42 gene(s)	inside rSNPs	diseases
8	nsv911785	chr19:42741124-42917545	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	46 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2615615	TMEM145	cis	lymphoblastoid	seeQTL

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:42807200-42808200	Enhancers	HepG2	liver
2	chr19:42807200-42817200	Weak transcription	Right Atrium	heart
3	chr19:42807400-42808200	Enhancers	Primary B cells from peripheral blood	blood
4	chr19:42807400-42808200	Enhancers	Primary T helper cells PMA-I stimulated	--
5	chr19:42807600-42808200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr19:42807600-42808200	Enhancers	Fetal Kidney	kidney
7	chr19:42807600-42808200	Weak transcription	Gastric	stomach
8	chr19:42807600-42808200	Enhancers	A549	lung
9	chr19:42807600-42808400	Enhancers	Fetal Muscle Trunk	muscle
10	chr19:42807600-42810800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr19:42807600-42811000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr19:42807600-42814600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr19:42807800-42808200	Enhancers	K562	blood
14	chr19:42807800-42808400	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr19:42807800-42809600	Weak transcription	Hela-S3	cervix
16	chr19:42807800-42809800	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr19:42807800-42810200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr19:42807800-42810200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr19:42807800-42810800	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr19:42807800-42814200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr19:42807800-42815800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr19:42807800-42815800	Weak transcription	Fetal Stomach	stomach
23	chr19:42807800-42816200	Weak transcription	Brain Germinal Matrix	brain
24	chr19:42808000-42808200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr19:42808000-42810200	Weak transcription	Primary T cells fromperipheralblood	blood
26	chr19:42808000-42810800	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr19:42808000-42811000	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr19:42808000-42811000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr19:42808000-42815600	Weak transcription	Fetal Brain Female	brain

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