Variant report

Variant	rs72729451
Chromosome Location	chr15:40225658-40225659
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:61)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:8 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	HA-E2F1	chr15:40225580-40226660	MCF-7	breast:	n/a	chr15:40225999-40226006 chr15:40225999-40226006 chr15:40225999-40226006
2	RCOR1	chr15:40225454-40227400	IMR90	lung:	n/a	n/a
3	POLR2A	chr15:40225537-40226628	Hela-S3	cervix:	n/a	n/a
4	ELF1	chr15:40225585-40226723	GM12878	blood:	n/a	chr15:40226611-40226622 chr15:40226585-40226597
5	STAT3	chr15:40225557-40226250	MCF10A-Er-Src	breast:	n/a	chr15:40225614-40225637 chr15:40225629-40225637
6	POLR2A	chr15:40225370-40226697	Hela-S3	cervix:	n/a	n/a
7	POLR2A	chr15:40225484-40226715	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr15:40225470-40226793	Hela-S3	cervix:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:40225618-40225668	HepG2	liver:	n/a
2	chr15:40225618-40225668	HCF	heart:	n/a
3	chr15:40225618-40225668	GM12891	blood:	n/a
4	chr15:40225618-40225668	GM19239	blood:	n/a
5	chr15:40225618-40225668	MCF-7	breast:	n/a
6	chr15:40225618-40225668	K562	blood:	n/a
7	chr15:40225618-40225668	AoSMC	blood vessel:	n/a
8	chr15:40225618-40225668	Hela-S3	cervix:	n/a
9	chr15:40225618-40225668	AG10803	skin:	n/a
10	chr15:40225618-40225668	AG04449	skin:	fetal
11	chr15:40225618-40225668	ProgFib	skin:	n/a
12	chr15:40225618-40225668	ECC-1	luminal epithelium:	n/a
13	chr15:40225618-40225668	BJ	skin:	n/a
14	chr15:40225618-40225668	NH-A	brain:	n/a
15	chr15:40225618-40225668	LNCaP	prostate:	n/a
16	chr15:40225618-40225668	PrEC	prostate:	n/a
17	chr15:40225618-40225668	AG09309	skin:	n/a
18	chr15:40225618-40225668	HCT-116	colon:	n/a
19	chr15:40225618-40225668	HEK293	kidney:	embryo
20	chr15:40225618-40225668	MCF10A-Er-Src	breast:	n/a
21	chr15:40225618-40225668	ovcar-3	ovarian:	n/a
22	chr15:40225618-40225668	HEEpiC	esophagus:	n/a
23	chr15:40225618-40225668	HPAEpiC	pulmonary alveolar:	n/a
24	chr15:40225618-40225668	HRE	kidney:	n/a
25	chr15:40225618-40225668	A549	lung:	n/a
26	chr15:40225618-40225668	U87	brain:	n/a
27	chr15:40225618-40225668	SK-N-SH_RA	brain:	n/a
28	chr15:40225618-40225668	GM06990	blood:	n/a
29	chr15:40225618-40225668	HCPEpiC	choroid plexus:	n/a
30	chr15:40225618-40225668	SKMC	muscle:	n/a
31	chr15:40225618-40225668	NT2-D1	testis:	n/a
32	chr15:40225618-40225668	HNPCEpiC	eye:	n/a
33	chr15:40225618-40225668	PANC-1	pancreas:	n/a
34	chr15:40225618-40225668	HIPEpiC	eye:	n/a
35	chr15:40225618-40225668	NHBE	bronchial:	n/a
36	chr15:40225618-40225668	PFSK-1	brain:	n/a
37	chr15:40225618-40225668	Jurkat	blood:	n/a
38	chr15:40225618-40225668	AG04450	lung:	fetal
39	chr15:40225618-40225668	HUVEC	blood vessel:	n/a
40	chr15:40225618-40225668	Caco-2	colon:	n/a
41	chr15:40225618-40225668	HRCEpiC	kidney:	n/a
42	chr15:40225618-40225668	NHDF-neo	bronchial:	n/a
43	chr15:40225618-40225668	HRPEpiC	eye:	n/a
44	chr15:40225618-40225668	NB4	blood:	n/a
45	chr15:40225618-40225668	Hepatocyte	liver:	n/a
46	chr15:40225618-40225668	BE2_C	brain:	n/a
47	chr15:40225618-40225668	H1-hESC	embryonic stem cell:	embryo
48	chr15:40225618-40225668	SK-N-SH	brain:	n/a
49	chr15:40225618-40225668	SK-N-MC	brain:	n/a
50	chr15:40225618-40225668	HCM	heart:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr15:40211846..40214390-chr15:40224576..40226655,2	K562	blood:
2	chr15:40214834..40219458-chr15:40222098..40228403,10	K562	blood:
3	chr15:40093040..40094841-chr15:40224572..40226141,2	K562	blood:
4	chr15:40214696..40216721-chr15:40223722..40226672,2	MCF-7	breast:
5	chr15:40211366..40214080-chr15:40223428..40228644,6	MCF-7	breast:
6	chr15:40225596..40226312-chr18:13725946..13726591,2	Hela-S3	cervix:
7	chr15:40224751..40226290-chr15:40266670..40268838,2	MCF-7	breast:

No data

Variant related genes	Relation type
EIF2AK4	TF binding region
EIF2AK4	CpG island
ENSG00000246863	Chromatin interaction
ENSG00000200305	Chromatin interaction
ENSG00000166073	Chromatin interaction
ENSG00000177150	Chromatin interaction
ENSG00000259580	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10162972	1.00[ASN][1000 genomes]
rs72729453	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72729458	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73399187	1.00[ASN][1000 genomes]
rs73399194	1.00[ASN][1000 genomes]
rs73399195	1.00[ASN][1000 genomes]
rs73401105	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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	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:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:40213800-40225800	Weak transcription	Right Atrium	heart
2	chr15:40215200-40226000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr15:40215600-40225800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr15:40224200-40226000	Weak transcription	Fetal Heart	heart
5	chr15:40224800-40225800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr15:40224800-40225800	Enhancers	NHLF	lung
7	chr15:40224800-40226800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
8	chr15:40224800-40227800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr15:40225000-40225800	Enhancers	H9 Cell Line	embryonic stem cell
10	chr15:40225000-40225800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
11	chr15:40225000-40225800	Enhancers	Psoas Muscle	Psoas
12	chr15:40225200-40225800	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr15:40225200-40225800	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr15:40225200-40225800	Enhancers	HUVEC	blood vessel
15	chr15:40225200-40226000	Enhancers	Fetal Brain Male	brain
16	chr15:40225200-40226200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr15:40225200-40227800	Active TSS	ES-I3 Cell Line	embryonic stem cell
18	chr15:40225400-40225800	Enhancers	Primary B cells from cord blood	blood
19	chr15:40225400-40225800	Enhancers	Primary hematopoietic stem cells	blood
20	chr15:40225400-40225800	Enhancers	Primary T helper naive cells from peripheral blood	blood
21	chr15:40225400-40225800	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr15:40225400-40225800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr15:40225400-40225800	Enhancers	Brain Germinal Matrix	brain
24	chr15:40225400-40225800	Enhancers	Fetal Thymus	thymus
25	chr15:40225400-40225800	Enhancers	Pancreas	Pancrea
26	chr15:40225400-40225800	Weak transcription	Small Intestine	intestine
27	chr15:40225400-40225800	Enhancers	GM12878-XiMat	blood
28	chr15:40225400-40225800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
29	chr15:40225400-40226000	Weak transcription	NHDF-Ad	bronchial
30	chr15:40225400-40226400	Active TSS	Colonic Mucosa	Colon
31	chr15:40225400-40226600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr15:40225400-40226600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr15:40225400-40226600	Active TSS	Adipose Nuclei	Adipose
34	chr15:40225400-40226600	Active TSS	Rectal Mucosa Donor 29	rectum
35	chr15:40225400-40226800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr15:40225400-40226800	Active TSS	Brain Hippocampus Middle	brain
37	chr15:40225400-40226800	Active TSS	K562	blood
38	chr15:40225400-40227000	Active TSS	Brain Substantia Nigra	brain
39	chr15:40225400-40227000	Active TSS	HSMMtube	muscle
40	chr15:40225400-40227400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr15:40225400-40228000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr15:40225400-40228200	Active TSS	A549	lung
43	chr15:40225600-40225800	Enhancers	H1 Cell Line	embryonic stem cell
44	chr15:40225600-40225800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
45	chr15:40225600-40225800	Enhancers	Primary B cells from peripheral blood	blood
46	chr15:40225600-40225800	Enhancers	Primary T cells fromperipheralblood	blood
47	chr15:40225600-40225800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
48	chr15:40225600-40225800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
49	chr15:40225600-40225800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr15:40225600-40225800	Enhancers	Fetal Intestine Small	intestine

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