Variant report

Variant	rs573956481
Chromosome Location	chr15:40615852-40615853
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	MYC	chr15:40615580-40616003	HepG2	liver:	n/a	n/a
2	CTCF	chr15:40615478-40615879	Pancreas_OC	pancreas:	n/a	chr15:40615657-40615667 chr15:40615826-40615836 chr15:40615652-40615670 chr15:40615655-40615664
3	TCF7L2	chr15:40615384-40616012	HCT-116	colon:	n/a	n/a
4	FOS	chr15:40615502-40615868	MCF10A-Er-Src	breast:	n/a	n/a
5	ELF1	chr15:40615301-40615964	MCF-7	breast:	n/a	chr15:40615524-40615536 chr15:40615869-40615881
6	MAX	chr15:40615224-40616200	ECC-1	luminal epithelium:	n/a	n/a
7	MAX	chr15:40615181-40616130	HCT-116	colon:	n/a	n/a
8	SIN3AK20	chr15:40615093-40615953	H1-hESC	embryonic stem cell:	n/a	n/a
9	SP1	chr15:40615510-40615902	K562	blood:	n/a	chr15:40615521-40615530 chr15:40615822-40615831 chr15:40615821-40615833 chr15:40615822-40615831 chr15:40615519-40615531 chr15:40615821-40615833 chr15:40615823-40615832
10	SRF	chr15:40615512-40616065	ECC-1	luminal epithelium:	n/a	n/a
11	CREB1	chr15:40615334-40616100	K562	blood:	n/a	chr15:40615668-40615681 chr15:40615668-40615681
12	POLR2A	chr15:40615217-40616166	H1-neurons	neurons:	n/a	n/a
13	MAX	chr15:40615367-40615928	HUVEC	blood vessel:	n/a	n/a
14	JUND	chr15:40615506-40615880	H1-hESC	embryonic stem cell:	n/a	n/a
15	NANOG	chr15:40615408-40615876	H1-hESC	embryonic stem cell:	n/a	n/a
16	CREB1	chr15:40615269-40616066	HepG2	liver:	n/a	chr15:40615668-40615681 chr15:40615668-40615681
17	PBX3	chr15:40615305-40615989	SK-N-SH	brain:	n/a	n/a
18	ELF1	chr15:40615467-40615945	SK-N-SH	brain:	n/a	chr15:40615524-40615536 chr15:40615869-40615881
19	MYC	chr15:40615434-40616433	NB4	blood:	n/a	n/a
20	BCLAF1	chr15:40615405-40615906	K562	blood:	n/a	chr15:40615745-40615758 chr15:40615770-40615779 chr15:40615720-40615733 chr15:40615521-40615530 chr15:40615850-40615863
21	PBX3	chr15:40615339-40615955	SK-N-SH	brain:	n/a	n/a
22	ETS1	chr15:40615510-40616052	K562	blood:	n/a	chr15:40615770-40615779 chr15:40615847-40615858 chr15:40615823-40615834 chr15:40615770-40615779 chr15:40615768-40615778
23	POLR2A	chr15:40615310-40616160	H1-neurons	neurons:	n/a	n/a
24	JUND	chr15:40614913-40616036	SK-N-SH	brain:	n/a	n/a
25	RUNX3	chr15:40615291-40615882	GM12878	blood:	n/a	n/a
26	ELF1	chr15:40615656-40615868	A549	lung:	n/a	n/a
27	MYC	chr15:40615486-40616574	MCF-7	breast:	n/a	n/a
28	POLR2A	chr15:40615620-40616000	HCT-116	colon:	n/a	n/a
29	EP300	chr15:40615336-40616086	ECC-1	luminal epithelium:	n/a	chr15:40616070-40616086 chr15:40615738-40615754 chr15:40615905-40615914 chr15:40615825-40615841 chr15:40615771-40615778 chr15:40615737-40615753
30	KAT2A	chr15:40615493-40615904	GM12878	blood:	n/a	n/a
31	CHD2	chr15:40615430-40615891	H1-hESC	embryonic stem cell:	n/a	chr15:40615821-40615831 chr15:40615851-40615861 chr15:40615842-40615852
32	ELK1	chr15:40615563-40615939	GM12878	blood:	n/a	chr15:40615770-40615779 chr15:40615770-40615779
33	MAX	chr15:40615398-40615928	H1-hESC	embryonic stem cell:	n/a	n/a
34	JUND	chr15:40615556-40615908	A549	lung:	n/a	n/a
35	SETDB1	chr15:40615320-40615899	K562	blood:	n/a	n/a
36	SP4	chr15:40615376-40615859	H1-hESC	embryonic stem cell:	n/a	chr15:40615561-40615577 chr15:40615821-40615837
37	POLR2A	chr15:40615774-40616002	GM12878	blood:	n/a	n/a
38	TCF12	chr15:40615319-40615931	ECC-1	luminal epithelium:	n/a	n/a
39	SP1	chr15:40615447-40615885	K562	blood:	n/a	chr15:40615521-40615530 chr15:40615822-40615831 chr15:40615821-40615833 chr15:40615822-40615831 chr15:40615519-40615531 chr15:40615821-40615833 chr15:40615823-40615832
40	SIN3AK20	chr15:40615730-40615894	HepG2	liver:	n/a	n/a
41	HA-E2F1	chr15:40615443-40616266	Hela-S3	cervix:	n/a	chr15:40615823-40615832 chr15:40616080-40616090 chr15:40615820-40615832 chr15:40615747-40615757 chr15:40616077-40616087 chr15:40615523-40615532 chr15:40616070-40616080
42	GTF2F1	chr15:40615491-40615868	H1-hESC	embryonic stem cell:	n/a	n/a
43	IRF1	chr15:40615390-40615998	K562	blood:	n/a	chr15:40615819-40615833 chr15:40615519-40615533
44	MAX	chr15:40615314-40616070	SK-N-SH	brain:	n/a	n/a
45	HEY1	chr15:40615644-40615997	HepG2	liver:	n/a	chr15:40615860-40615875 chr15:40615849-40615864 chr15:40615813-40615828 chr15:40615906-40615921
46	MAZ	chr15:40615386-40615985	HepG2	liver:	n/a	n/a
47	CTCF	chr15:40615451-40615924	Spleen_OC	spleen:	n/a	chr15:40615657-40615667 chr15:40615826-40615836 chr15:40615652-40615670 chr15:40615655-40615664
48	KAT2A	chr15:40615522-40615880	Hela-S3	cervix:	n/a	n/a
49	POLR2A	chr15:40615805-40616001	A549	lung:	n/a	n/a
50	POLR2A	chr15:40615717-40615964	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:40615161..40616254-chr15:40713827..40714847,4	K562	blood:
2	chr15:40615499..40617257-chr15:40732436..40735160,2	K562	blood:
3	chr15:40614221..40619136-chr15:40629898..40635011,9	K562	blood:
4	chr15:40583616..40585723-chr15:40614548..40617090,2	K562	blood:
5	chr15:40573745..40575892-chr15:40613923..40616158,2	K562	blood:
6	chr15:40606578..40610704-chr15:40612489..40616999,9	K562	blood:
7	chr15:40581922..40583593-chr15:40614518..40616173,2	K562	blood:
8	chr15:40596957..40600729-chr15:40613519..40617071,4	K562	blood:
9	chr15:40615118..40617051-chr15:40729542..40732021,2	K562	blood:
10	chr15:40613571..40616194-chr15:40676591..40679577,2	K562	blood:
11	chr15:40614961..40616867-chr15:40712396..40714190,2	MCF-7	breast:
12	chr15:40573791..40575924-chr15:40613554..40617283,3	MCF-7	breast:
13	chr15:40608873..40611853-chr15:40613878..40616202,2	MCF-7	breast:
14	chr15:40510541..40512947-chr15:40613762..40616049,2	K562	blood:
15	chr15:40606578..40609257-chr15:40612890..40617072,4	K562	blood:
16	chr15:40613279..40619250-chr15:40625286..40632667,13	MCF-7	breast:
17	chr15:40615591..40616151-chr15:40630170..40630839,2	K562	blood:
18	chr15:40599147..40601689-chr15:40614013..40619011,4	K562	blood:
19	chr15:40615847..40616573-chr7:99686271..99687080,2	NB4	blood:
20	chr15:40613324..40616013-chr15:40714259..40715828,2	K562	blood:
21	chr15:40613668..40617143-chr15:40761466..40764045,3	K562	blood:

Variant related genes	Relation type
LINC00984	TF binding region
ENSG00000259288	Chromatin interaction
ENSG00000168090	Chromatin interaction
ENSG00000188549	Chromatin interaction
ENSG00000140320	Chromatin interaction
ENSG00000230778	Chromatin interaction
ENSG00000137841	Chromatin interaction
ENSG00000169105	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

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	esv34145	chr15:40549617-40889824	Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv510660	chr15:40552906-40721883	Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
3	esv1850798	chr15:40560607-40622191	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv827305	chr15:40596162-40625922	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
5	esv3378883	chr15:40614885-40617433	Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	esv3428901	chr15:40615210-40617508	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	esv3438791	chr15:40615285-40617833	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:40613400-40617000	Enhancers	Fetal Brain Male	brain
2	chr15:40614800-40616800	Active TSS	Duodenum Smooth Muscle	Duodenum
3	chr15:40614800-40617000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
4	chr15:40614800-40617200	Active TSS	Gastric	stomach
5	chr15:40614800-40618200	Active TSS	Colon Smooth Muscle	Colon
6	chr15:40614800-40618400	Active TSS	Aorta	Aorta
7	chr15:40615000-40616800	Active TSS	Brain Angular Gyrus	brain
8	chr15:40615000-40616800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
9	chr15:40615000-40617000	Active TSS	Brain Anterior Caudate	brain
10	chr15:40615000-40617000	Active TSS	Brain Cingulate Gyrus	brain
11	chr15:40615000-40617200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr15:40615200-40617000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr15:40615200-40617000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr15:40615200-40617200	Active TSS	H9 Cell Line	embryonic stem cell
15	chr15:40615200-40617200	Active TSS	Pancreatic Islets	Pancreatic Islet
16	chr15:40615200-40617800	Active TSS	Right Atrium	heart
17	chr15:40615400-40616000	Weak transcription	Spleen	Spleen
18	chr15:40615400-40616200	Weak transcription	NHDF-Ad	bronchial
19	chr15:40615400-40616400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr15:40615400-40616600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr15:40615400-40616600	Active TSS	Brain Germinal Matrix	brain
22	chr15:40615400-40616800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
23	chr15:40615400-40616800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr15:40615400-40616800	Active TSS	Fetal Intestine Small	intestine
25	chr15:40615400-40616800	Active TSS	Psoas Muscle	Psoas
26	chr15:40615400-40616800	Active TSS	A549	lung
27	chr15:40615400-40616800	Active TSS	HepG2	liver
28	chr15:40615400-40617000	Active TSS	HUES48 Cell Line	embryonic stem cell
29	chr15:40615400-40617000	Active TSS	HUES6 Cell Line	embryonic stem cell
30	chr15:40615400-40617000	Active TSS	HUES64 Cell Line	embryonic stem cell
31	chr15:40615400-40617000	Active TSS	iPS-15b Cell Line	embryonic stem cell
32	chr15:40615400-40617000	Active TSS	iPS-20b Cell Line	embryonic stem cell
33	chr15:40615400-40617000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr15:40615400-40617000	Active TSS	Primary neutrophils fromperipheralblood	blood
35	chr15:40615400-40617000	Active TSS	Primary T cells from cord blood	blood
36	chr15:40615400-40617000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr15:40615400-40617000	Active TSS	Muscle Satellite Cultured Cells	--
38	chr15:40615400-40617000	Active TSS	Brain Hippocampus Middle	brain
39	chr15:40615400-40617000	Active TSS	Brain Inferior Temporal Lobe	brain
40	chr15:40615400-40617000	Active TSS	Brain Substantia Nigra	brain
41	chr15:40615400-40617000	Active TSS	Fetal Brain Female	brain
42	chr15:40615400-40617000	Active TSS	Rectal Mucosa Donor 29	rectum
43	chr15:40615400-40617000	Active TSS	Rectal Smooth Muscle	rectum
44	chr15:40615400-40617000	Active TSS	NH-A	brain
45	chr15:40615400-40617200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr15:40615400-40617200	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
47	chr15:40615400-40617200	Active TSS	Esophagus	oesophagus
48	chr15:40615400-40617200	Active TSS	Sigmoid Colon	Sigmoid Colon
49	chr15:40615400-40617600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr15:40615400-40617600	Active TSS	Left Ventricle	heart

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