Variant report

Variant	rs12592148
Chromosome Location	chr15:40218069-40218070
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOSL2	chr15:40217553-40218147	SK-N-SH	brain:	n/a	n/a
2	FOS	chr15:40217635-40218117	HUVEC	blood vessel:	n/a	n/a
3	POLR2A	chr15:40217743-40218115	MCF10A-Er-Src	breast:	n/a	n/a
4	USF1	chr15:40217429-40218083	HCT-116	colon:	n/a	n/a
5	USF1	chr15:40217575-40218070	ECC-1	luminal epithelium:	n/a	n/a
6	USF1	chr15:40217543-40218110	HCT-116	colon:	n/a	n/a
7	JUN	chr15:40216881-40218133	K562	blood:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:40214834..40219458-chr15:40222098..40228403,10	K562	blood:
2	chr15:40211061..40213229-chr15:40216666..40218763,2	K562	blood:
3	chr15:40180749..40182954-chr15:40217728..40220532,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-EIF2AK4-1	chr15:40213271-40218081	ENSG00000246863.2

No data

Variant related genes	Relation type
GPR176	TF binding region
ENSG00000200305	TF binding region
ENSG00000128829	Chromatin interaction
ENSG00000166073	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1020028	0.82[EUR][1000 genomes]
rs16970024	0.89[EUR][1000 genomes]
rs16970035	0.82[EUR][1000 genomes]
rs3816902	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs58498873	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59688263	0.82[EUR][1000 genomes]
rs7180793	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs920142	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][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	nsv530816	chr15:40003136-40586792	Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	nsv832979	chr15:40041928-40218407	Genic enhancers Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv832983	chr15:40098766-40248839	Genic enhancers Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:40213600-40225000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr15:40213600-40225400	Weak transcription	Pancreas	Pancrea
3	chr15:40213800-40225800	Weak transcription	Right Atrium	heart
4	chr15:40215200-40226000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr15:40215600-40225800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr15:40216200-40218200	Enhancers	H9 Cell Line	embryonic stem cell
7	chr15:40216200-40218200	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr15:40216200-40218200	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr15:40216200-40218400	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr15:40216400-40218200	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr15:40216400-40218200	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr15:40216800-40218200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr15:40216800-40218400	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr15:40216800-40218400	Enhancers	K562	blood
15	chr15:40217200-40218200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr15:40217200-40218200	Enhancers	Osteobl	bone
17	chr15:40217200-40218400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr15:40217400-40218200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr15:40217400-40218200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr15:40217400-40218200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr15:40217400-40218200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr15:40217400-40218200	Enhancers	HUVEC	blood vessel
23	chr15:40217400-40218200	Enhancers	NH-A	brain
24	chr15:40217400-40218200	Enhancers	NHEK	skin
25	chr15:40217400-40218200	Enhancers	NHLF	lung
26	chr15:40217400-40218400	Enhancers	Hela-S3	cervix
27	chr15:40217400-40218400	Enhancers	HMEC	breast
28	chr15:40217400-40218400	Enhancers	HSMMtube	muscle
29	chr15:40217600-40218200	Enhancers	Muscle Satellite Cultured Cells	--
30	chr15:40217600-40218200	Enhancers	NHDF-Ad	bronchial
31	chr15:40217800-40218200	Enhancers	Primary hematopoietic stem cells short term culture	blood
32	chr15:40217800-40218800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr15:40218000-40218200	Enhancers	HSMM	muscle

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