Variant report

Variant	rs72729453
Chromosome Location	chr15:40226022-40226023
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr15:40225944-40226737	Hela-S3	cervix:	n/a	chr15:40226547-40226555
2	HCFC1	chr15:40226012-40226608	K562	blood:	n/a	n/a
3	MYC	chr15:40225992-40226365	MCF10A-Er-Src	breast:	n/a	n/a
4	RUNX3	chr15:40225890-40226598	GM12878	blood:	n/a	n/a
5	MAX	chr15:40226001-40226748	HepG2	liver:	n/a	chr15:40226547-40226555
6	POLR2A	chr15:40225895-40226655	GM12892	blood:	n/a	n/a
7	HA-E2F1	chr15:40225580-40226660	MCF-7	breast:	n/a	chr15:40225999-40226006 chr15:40225999-40226006 chr15:40225999-40226006
8	MYBL2	chr15:40225958-40226583	HepG2	liver:	n/a	n/a
9	POLR2A	chr15:40225952-40226670	HUVEC	blood vessel:	n/a	n/a
10	ZMIZ1	chr15:40226000-40226348	K562	blood:	n/a	n/a
11	POLR2A	chr15:40225871-40226643	A549	lung:	n/a	n/a
12	GTF2F1	chr15:40225947-40226308	Hela-S3	cervix:	n/a	n/a
13	PML	chr15:40225993-40226567	MCF-7	breast:	n/a	n/a
14	POLR2A	chr15:40225783-40226816	HepG2	liver:	n/a	n/a
15	CHD2	chr15:40225775-40226705	Hela-S3	cervix:	n/a	n/a
16	SP1	chr15:40225828-40226367	A549	lung:	n/a	chr15:40226173-40226187
17	POLR2A	chr15:40225930-40226579	HepG2	liver:	n/a	n/a
18	TBL1XR1	chr15:40225974-40226295	K562	blood:	n/a	n/a
19	TAF1	chr15:40225751-40226476	Hela-S3	cervix:	n/a	n/a
20	GABPA	chr15:40225770-40226542	K562	blood:	n/a	n/a
21	POLR2A	chr15:40225837-40226607	K562	blood:	n/a	n/a
22	ELK1	chr15:40225979-40226496	Hela-S3	cervix:	n/a	n/a
23	RCOR1	chr15:40225454-40227400	IMR90	lung:	n/a	n/a
24	POLR2A	chr15:40225664-40226718	MCF-7	breast:	n/a	n/a
25	ZNF263	chr15:40226009-40227152	HEK293-T-REx	kidney:	n/a	n/a
26	FOS	chr15:40225948-40226370	MCF10A-Er-Src	breast:	n/a	chr15:40226101-40226112
27	UBTF	chr15:40225896-40226947	K562	blood:	n/a	n/a
28	POLR2A	chr15:40225537-40226628	Hela-S3	cervix:	n/a	n/a
29	JUND	chr15:40225997-40226566	A549	lung:	n/a	n/a
30	MAX	chr15:40225978-40226765	A549	lung:	n/a	chr15:40226547-40226555
31	SP4	chr15:40225889-40226332	H1-hESC	embryonic stem cell:	n/a	n/a
32	TAF1	chr15:40225987-40226275	Hela-S3	cervix:	n/a	n/a
33	POLR2A	chr15:40225773-40226691	MCF-7	breast:	n/a	n/a
34	POU2F2	chr15:40226001-40226582	GM12891	blood:	n/a	n/a
35	POLR2A	chr15:40225893-40226255	GM12891	blood:	n/a	n/a
36	POLR2A	chr15:40226017-40226573	HepG2	liver:	n/a	n/a
37	RFX5	chr15:40225955-40226575	Hela-S3	cervix:	n/a	n/a
38	MYC	chr15:40225965-40226758	MCF10A-Er-Src	breast:	n/a	chr15:40226547-40226555
39	POLR2A	chr15:40225995-40226633	A549	lung:	n/a	n/a
40	TAF1	chr15:40225778-40226814	H1-hESC	embryonic stem cell:	n/a	n/a
41	FOS	chr15:40226009-40226290	MCF10A-Er-Src	breast:	n/a	chr15:40226101-40226112
42	POLR2A	chr15:40225995-40226470	K562	blood:	n/a	n/a
43	POLR2A	chr15:40225954-40226872	H1-hESC	embryonic stem cell:	n/a	n/a
44	REST	chr15:40226002-40226476	SK-N-SH	brain:	n/a	n/a
45	TCF12	chr15:40225798-40226977	SK-N-SH	brain:	n/a	n/a
46	GABPA	chr15:40225862-40226341	A549	lung:	n/a	n/a
47	ELF1	chr15:40225585-40226723	GM12878	blood:	n/a	chr15:40226611-40226622 chr15:40226585-40226597
48	CREB1	chr15:40225831-40226624	HepG2	liver:	n/a	n/a
49	NFIC	chr15:40225868-40226933	ECC-1	luminal epithelium:	n/a	n/a
50	STAT3	chr15:40225872-40226254	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:145382446..145383040-chr15:40225949..40226544,2	Hela-S3	cervix:
2	chr15:40211846..40214390-chr15:40224576..40226655,2	K562	blood:
3	chr15:40214834..40219458-chr15:40222098..40228403,10	K562	blood:
4	chr15:40225807..40226528-chr9:20621463..20622456,2	Hela-S3	cervix:
5	chr15:40093040..40094841-chr15:40224572..40226141,2	K562	blood:
6	chr15:40214696..40216721-chr15:40223722..40226672,2	MCF-7	breast:
7	chr15:40211366..40214080-chr15:40223428..40228644,6	MCF-7	breast:
8	chr15:40225596..40226312-chr18:13725946..13726591,2	Hela-S3	cervix:
9	chr15:40224751..40226290-chr15:40266670..40268838,2	MCF-7	breast:

Variant related genes	Relation type
EIF2AK4	TF binding region
ENSG00000200305	Chromatin interaction
ENSG00000166073	Chromatin interaction
ENSG00000171843	Chromatin interaction
ENSG00000246863	Chromatin interaction
ENSG00000259580	Chromatin interaction
ENSG00000177150	Chromatin interaction
ENSG00000201558	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]
rs72729451	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:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:40224800-40226800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
2	chr15:40224800-40227800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr15:40225200-40226200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr15:40225200-40227800	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr15:40225400-40226400	Active TSS	Colonic Mucosa	Colon
6	chr15:40225400-40226600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr15:40225400-40226600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr15:40225400-40226600	Active TSS	Adipose Nuclei	Adipose
9	chr15:40225400-40226600	Active TSS	Rectal Mucosa Donor 29	rectum
10	chr15:40225400-40226800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr15:40225400-40226800	Active TSS	Brain Hippocampus Middle	brain
12	chr15:40225400-40226800	Active TSS	K562	blood
13	chr15:40225400-40227000	Active TSS	Brain Substantia Nigra	brain
14	chr15:40225400-40227000	Active TSS	HSMMtube	muscle
15	chr15:40225400-40227400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr15:40225400-40228000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr15:40225400-40228200	Active TSS	A549	lung
18	chr15:40225600-40226200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr15:40225600-40226200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
20	chr15:40225600-40226200	Flanking Active TSS	Dnd41	blood
21	chr15:40225600-40226600	Active TSS	Primary hematopoietic stem cells short term culture	blood
22	chr15:40225600-40226600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr15:40225600-40226600	Active TSS	HMEC	breast
24	chr15:40225600-40226600	Active TSS	NH-A	brain
25	chr15:40225600-40226800	Active TSS	iPS-15b Cell Line	embryonic stem cell
26	chr15:40225600-40226800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr15:40225600-40226800	Active TSS	Breast Myoepithelial Primary Cells	Breast
28	chr15:40225600-40226800	Active TSS	Muscle Satellite Cultured Cells	--
29	chr15:40225600-40226800	Active TSS	Brain Angular Gyrus	brain
30	chr15:40225600-40226800	Active TSS	Duodenum Mucosa	Duodenum
31	chr15:40225600-40226800	Active TSS	Duodenum Smooth Muscle	Duodenum
32	chr15:40225600-40226800	Active TSS	Thymus	Thymus
33	chr15:40225600-40226800	Active TSS	Hela-S3	cervix
34	chr15:40225600-40226800	Active TSS	Osteobl	bone
35	chr15:40225600-40227000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
36	chr15:40225600-40227000	Active TSS	Brain Anterior Caudate	brain
37	chr15:40225600-40227000	Active TSS	Stomach Smooth Muscle	stomach
38	chr15:40225600-40227000	Active TSS	NHEK	skin
39	chr15:40225600-40227200	Active TSS	Placenta	Placenta
40	chr15:40225600-40227400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr15:40225600-40227400	Active TSS	Ovary	ovary
42	chr15:40225600-40227800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr15:40225600-40227800	Active TSS	HSMM	muscle
44	chr15:40225800-40226200	Flanking Active TSS	Primary B cells from peripheral blood	blood
45	chr15:40225800-40226200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
46	chr15:40225800-40226200	Flanking Active TSS	Brain Germinal Matrix	brain
47	chr15:40225800-40226400	Active TSS	Primary hematopoietic stem cells	blood
48	chr15:40225800-40226400	Active TSS	Primary T helper cells fromperipheralblood	blood
49	chr15:40225800-40226400	Active TSS	Primary T regulatory cells fromperipheralblood	blood
50	chr15:40225800-40226600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived

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