Variant report

Variant	rs369808316
Chromosome Location	chr15:57025810-57025811
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	HEY1	chr15:57024965-57025841	HepG2	liver:	n/a	chr15:57025515-57025530 chr15:57025488-57025503 chr15:57025808-57025823 chr15:57025742-57025757 chr15:57025485-57025500
2	TCF12	chr15:57025369-57026455	MCF-7	breast:	n/a	n/a
3	PAX5	chr15:57025302-57026158	GM12892	blood:	n/a	chr15:57026115-57026124 chr15:57025362-57025371
4	SP1	chr15:57025642-57026052	GM12878	blood:	n/a	chr15:57025885-57025896 chr15:57025973-57025987
5	E2F6	chr15:57024807-57026861	H1-hESC	embryonic stem cell:	n/a	chr15:57025488-57025498 chr15:57025541-57025550 chr15:57025808-57025818 chr15:57025866-57025881
6	TAF1	chr15:57024910-57025866	Hela-S3	cervix:	n/a	n/a
7	TBP	chr15:57025076-57025930	H1-hESC	embryonic stem cell:	n/a	n/a
8	TCF12	chr15:57025473-57026130	ECC-1	luminal epithelium:	n/a	n/a
9	EP300	chr15:57025712-57025871	GM12878	blood:	n/a	chr15:57025749-57025758
10	POLR2A	chr15:57023823-57026048	GM12878	blood:	n/a	n/a
11	JUND	chr15:57024838-57026080	K562	blood:	n/a	chr15:57025885-57025894 chr15:57026028-57026042
12	TCF7L2	chr15:57025717-57026247	PANC-1	pancreas:	n/a	n/a
13	THAP1	chr15:57025732-57026047	K562	blood:	n/a	n/a
14	CREB1	chr15:57025211-57026140	K562	blood:	n/a	n/a
15	SP1	chr15:57025500-57026286	A549	lung:	n/a	chr15:57025885-57025896 chr15:57025973-57025987
16	POLR2A	chr15:57024845-57026089	H1-hESC	embryonic stem cell:	n/a	n/a
17	GATA3	chr15:57025665-57025901	T-47D	breast:	n/a	n/a
18	ELK1	chr15:57025679-57026055	K562	blood:	n/a	n/a
19	POLR2A	chr15:57025103-57026153	A549	lung:	n/a	n/a
20	MAZ	chr15:57024895-57026200	GM12878	blood:	n/a	chr15:57025943-57025952
21	MYC	chr15:57025683-57026048	MCF-7	breast:	n/a	chr15:57025943-57025952
22	TEAD4	chr15:57025632-57026376	K562	blood:	n/a	n/a
23	MXI1	chr15:57024920-57026093	GM12878	blood:	n/a	n/a
24	UBTF	chr15:57025208-57025945	K562	blood:	n/a	n/a
25	MYC	chr15:57024000-57026500	A549	lung:	n/a	chr15:57025943-57025952
26	MAX	chr15:57024947-57026210	K562	blood:	n/a	chr15:57025943-57025952
27	TAF1	chr15:57025090-57026079	MCF-7	breast:	n/a	n/a
28	SRF	chr15:57025758-57025951	K562	blood:	n/a	n/a
29	POLR2A	chr15:57025225-57025938	GM12878	blood:	n/a	n/a
30	MAX	chr15:57024851-57026325	MCF-7	breast:	n/a	chr15:57025943-57025952
31	E2F6	chr15:57025107-57026170	K562	blood:	n/a	chr15:57025488-57025498 chr15:57025541-57025550 chr15:57025808-57025818 chr15:57025866-57025881
32	MYC	chr15:57025017-57026082	K562	blood:	n/a	chr15:57025943-57025952
33	POLR2A	chr15:57025149-57025965	K562	blood:	n/a	n/a
34	POLR2A	chr15:57025222-57025900	HepG2	liver:	n/a	n/a
35	POLR2A	chr15:57024919-57026071	GM15510	blood:	n/a	n/a
36	PML	chr15:57025306-57026067	MCF-7	breast:	n/a	n/a
37	RAD21	chr15:57024810-57025905	IMR90	lung:	n/a	chr15:57025408-57025422
38	STAT5A	chr15:57025580-57026096	K562	blood:	n/a	n/a
39	EGR1	chr15:57025085-57026155	HCT-116	colon:	n/a	chr15:57025509-57025522 chr15:57025506-57025520
40	USF2	chr15:57025735-57025993	GM12878	blood:	n/a	n/a
41	REST	chr15:57025743-57025971	K562	blood:	n/a	n/a
42	POLR2A	chr15:57025104-57025883	HepG2	liver:	n/a	n/a
43	TBP	chr15:57024910-57025908	HepG2	liver:	n/a	n/a
44	TAF1	chr15:57024913-57026082	A549	lung:	n/a	n/a
45	POLR2A	chr15:57025605-57026008	H1-hESC	embryonic stem cell:	n/a	n/a
46	TCF3	chr15:57025297-57026138	GM12878	blood:	n/a	n/a
47	YY1	chr15:57025029-57026022	GM12878	blood:	n/a	chr15:57025474-57025484 chr15:57025744-57025758 chr15:57025462-57025484 chr15:57025424-57025435 chr15:57025584-57025598 chr15:57025490-57025499 chr15:57025473-57025481 chr15:57025487-57025496 chr15:57025418-57025432 chr15:57025475-57025483 chr15:57025467-57025486
48	BHLHE40	chr15:57025189-57026058	HepG2	liver:	n/a	chr15:57025607-57025623 chr15:57025481-57025497
49	GTF2F1	chr15:57024991-57026680	H1-hESC	embryonic stem cell:	n/a	n/a
50	SIN3A	chr15:57025681-57025955	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:57024542..57026335-chr15:57210196..57212175,2	K562	blood:
2	chr15:57023111..57027218-chr15:57209095..57213054,4	K562	blood:
3	chr15:56534684..56537162-chr15:57025486..57027553,2	MCF-7	breast:
4	chr15:57022824..57027100-chr15:57611258..57614634,3	K562	blood:
5	chr15:56999062..57001613-chr15:57024278..57025915,2	MCF-7	breast:
6	chr15:56997588..57000196-chr15:57024112..57025817,2	K562	blood:
7	chr1:149223243..149225441-chr15:57024407..57026352,2	MCF-7	breast:
8	chr15:56997588..56999927-chr15:57024317..57027282,2	K562	blood:
9	chr15:57023339..57026885-chr15:57210242..57212303,3	MCF-7	breast:
10	chr15:57025323..57025921-chr5:1801018..1801848,2	Hela-S3	cervix:

Variant related genes	Relation type
ZNF280D	TF binding region
ENSG00000206737	Chromatin interaction
ENSG00000151575	Chromatin interaction
ENSG00000137871	Chromatin interaction
ENSG00000140262	Chromatin interaction
ENSG00000171421	Chromatin interaction
ENSG00000260172	Chromatin interaction
ENSG00000181827	Chromatin interaction
ENSG00000145494	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

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	esv3422474	chr15:56867190-57244330	Strong transcription ZNF genes & repeats Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	nsv569576	chr15:57012816-57126917	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	esv3449418	chr15:57024810-57026908	Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:57024200-57026000	Active TSS	Fetal Muscle Trunk	muscle
2	chr15:57024200-57026000	Active TSS	Skeletal Muscle Male	skeletal muscle
3	chr15:57024200-57026200	Active TSS	Aorta	Aorta
4	chr15:57024200-57026200	Active TSS	Ovary	ovary
5	chr15:57024200-57026200	Active TSS	Psoas Muscle	Psoas
6	chr15:57024200-57026400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr15:57024400-57026200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr15:57024400-57026400	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr15:57024600-57026000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr15:57024600-57026000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr15:57024600-57026000	Active TSS	Fetal Intestine Large	intestine
12	chr15:57024600-57026000	Active TSS	Placenta	Placenta
13	chr15:57024600-57026000	Active TSS	Fetal Thymus	thymus
14	chr15:57024600-57026000	Active TSS	Lung	lung
15	chr15:57024600-57026000	Active TSS	NHDF-Ad	bronchial
16	chr15:57024600-57026200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr15:57024600-57026200	Active TSS	Brain Germinal Matrix	brain
18	chr15:57024600-57026400	Active TSS	Brain Anterior Caudate	brain
19	chr15:57024600-57026400	Active TSS	Brain Substantia Nigra	brain
20	chr15:57024800-57026000	Active TSS	H1 Cell Line	embryonic stem cell
21	chr15:57024800-57026000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr15:57024800-57026000	Active TSS	HUES64 Cell Line	embryonic stem cell
23	chr15:57024800-57026000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr15:57024800-57026000	Active TSS	Fetal Adrenal Gland	Adrenal Gland
25	chr15:57024800-57026000	Active TSS	Fetal Intestine Small	intestine
26	chr15:57024800-57026000	Active TSS	Fetal Stomach	stomach
27	chr15:57024800-57026000	Active TSS	Placenta Amnion	Placenta Amnion
28	chr15:57024800-57026000	Active TSS	Rectal Mucosa Donor 29	rectum
29	chr15:57024800-57026000	Active TSS	Stomach Mucosa	stomach
30	chr15:57024800-57026000	Active TSS	Stomach Smooth Muscle	stomach
31	chr15:57024800-57026000	Active TSS	A549	lung
32	chr15:57024800-57026000	Active TSS	HSMM	muscle
33	chr15:57024800-57026000	Active TSS	K562	blood
34	chr15:57024800-57026000	Active TSS	NHLF	lung
35	chr15:57024800-57026200	Active TSS	iPS-15b Cell Line	embryonic stem cell
36	chr15:57024800-57026200	Active TSS	Breast Myoepithelial Primary Cells	Breast
37	chr15:57024800-57026200	Active TSS	Brain Cingulate Gyrus	brain
38	chr15:57024800-57026200	Active TSS	Brain Hippocampus Middle	brain
39	chr15:57024800-57026200	Active TSS	Colon Smooth Muscle	Colon
40	chr15:57024800-57026200	Active TSS	Duodenum Mucosa	Duodenum
41	chr15:57024800-57026400	Active TSS	Liver	Liver
42	chr15:57024800-57026400	Active TSS	Brain Angular Gyrus	brain
43	chr15:57024800-57026400	Active TSS	Brain Inferior Temporal Lobe	brain
44	chr15:57024800-57026400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
45	chr15:57024800-57026400	Active TSS	Fetal Brain Female	brain
46	chr15:57024800-57026400	Active TSS	Fetal Kidney	kidney
47	chr15:57024800-57026400	Active TSS	Fetal Lung	lung
48	chr15:57024800-57026400	Active TSS	HSMMtube	muscle
49	chr15:57024800-57026800	Active TSS	Primary T helper naive cells fromperipheralblood	blood
50	chr15:57025000-57026000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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