Variant report

Variant	rs28375199
Chromosome Location	chr15:72522908-72522909
allele	C/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	YY1	chr15:72522335-72523057	K562	blood:	n/a	chr15:72522436-72522445 chr15:72522407-72522421
2	POLR2A	chr15:72522332-72524271	HepG2	liver:	n/a	n/a
3	CREB1	chr15:72522350-72523095	H1-hESC	embryonic stem cell:	n/a	n/a
4	SP1	chr15:72522559-72524970	HCT-116	colon:	n/a	chr15:72523809-72523818 chr15:72523984-72523996 chr15:72523631-72523645 chr15:72523630-72523642 chr15:72523630-72523641 chr15:72523593-72523602 chr15:72523631-72523640 chr15:72523630-72523642 chr15:72523592-72523602 chr15:72523632-72523641 chr15:72523631-72523641 chr15:72523984-72523996 chr15:72523631-72523641 chr15:72523808-72523820 chr15:72523985-72523994 chr15:72523592-72523606 chr15:72523591-72523602 chr15:72523808-72523820 chr15:72522580-72522594 chr15:72523592-72523601 chr15:72523779-72523800 chr15:72523591-72523603 chr15:72523171-72523185 chr15:72523810-72523819 chr15:72523591-72523603 chr15:72523631-72523640
5	BCLAF1	chr15:72522207-72524171	GM12878	blood:	n/a	chr15:72522589-72522602 chr15:72523584-72523593 chr15:72523587-72523596 chr15:72523680-72523693 chr15:72523789-72523802 chr15:72523682-72523691 chr15:72523677-72523690 chr15:72523679-72523688 chr15:72523585-72523598 chr15:72523647-72523660 chr15:72523681-72523694 chr15:72522432-72522445 chr15:72523685-72523694 chr15:72523678-72523691
6	GABPA	chr15:72522629-72523062	A549	lung:	n/a	n/a
7	MAZ	chr15:72520233-72524949	IMR90	lung:	n/a	chr15:72523592-72523602 chr15:72521428-72521441 chr15:72521429-72521440 chr15:72521431-72521440 chr15:72521430-72521439 chr15:72521988-72521998 chr15:72522194-72522204 chr15:72520676-72520687 chr15:72521425-72521444 chr15:72521429-72521439 chr15:72521429-72521440
8	JUND	chr15:72522507-72523101	A549	lung:	n/a	n/a
9	RELA	chr15:72522442-72524465	GM12892	blood:	n/a	n/a
10	POLR2A	chr15:72522254-72524830	MCF10A-Er-Src	breast:	n/a	n/a
11	MAX	chr15:72522341-72524956	A549	lung:	n/a	chr15:72523592-72523602
12	TBP	chr15:72522819-72524247	GM12878	blood:	n/a	n/a
13	TAF1	chr15:72522292-72524155	HepG2	liver:	n/a	n/a
14	POLR2A	chr15:72520234-72524268	GM19193	blood:	n/a	n/a
15	POLR2A	chr15:72522401-72523222	K562	blood:	n/a	n/a
16	MAX	chr15:72520816-72524254	K562	blood:	n/a	chr15:72523592-72523602 chr15:72521428-72521441 chr15:72521429-72521440 chr15:72521431-72521440 chr15:72521428-72521438 chr15:72521430-72521439 chr15:72521988-72521998 chr15:72522194-72522204 chr15:72521425-72521444 chr15:72521429-72521439 chr15:72521429-72521440
17	POLR2A	chr15:72517579-72524300	GM12892	blood:	n/a	n/a
18	POLR2A	chr15:72520449-72524305	GM15510	blood:	n/a	n/a
19	POLR2A	chr15:72522234-72525097	Hela-S3	cervix:	n/a	n/a
20	POLR2A	chr15:72522299-72524149	HepG2	liver:	n/a	n/a
21	HA-E2F1	chr15:72522308-72524734	MCF-7	breast:	n/a	chr15:72523212-72523224 chr15:72523682-72523692 chr15:72523216-72523223 chr15:72523810-72523819 chr15:72523679-72523689 chr15:72523216-72523223 chr15:72523632-72523641 chr15:72523082-72523091 chr15:72523216-72523223
22	ELF1	chr15:72522365-72522996	K562	blood:	n/a	chr15:72522589-72522598
23	EP300	chr15:72522685-72523956	K562	blood:	n/a	chr15:72523806-72523815 chr15:72523562-72523578 chr15:72523563-72523579 chr15:72523680-72523689 chr15:72523683-72523692
24	PBX3	chr15:72522452-72524879	A549	lung:	n/a	n/a
25	MAX	chr15:72522272-72524349	HepG2	liver:	n/a	chr15:72523592-72523602
26	HDAC2	chr15:72522614-72522950	K562	blood:	n/a	n/a
27	MAFK	chr15:72522773-72524947	Hela-S3	cervix:	n/a	chr15:72524389-72524400 chr15:72524390-72524401 chr15:72524390-72524401 chr15:72524381-72524398 chr15:72524388-72524402 chr15:72524385-72524400 chr15:72524389-72524400
28	MAX	chr15:72522218-72524881	MCF-7	breast:	n/a	chr15:72523592-72523602
29	TCF12	chr15:72522303-72524604	MCF-7	breast:	n/a	chr15:72523922-72523932 chr15:72523169-72523179
30	HEY1	chr15:72522159-72524829	HepG2	liver:	n/a	chr15:72523677-72523692 chr15:72523679-72523694 chr15:72522587-72522602 chr15:72522429-72522444 chr15:72522405-72522420 chr15:72523840-72523855 chr15:72522571-72522586
31	CCNT2	chr15:72521891-72524989	K562	blood:	n/a	chr15:72523207-72523216 chr15:72523632-72523641 chr15:72522183-72522192
32	USF2	chr15:72522888-72523050	H1-hESC	embryonic stem cell:	n/a	n/a
33	ZKSCAN1	chr15:72522771-72524770	Hela-S3	cervix:	n/a	chr15:72523552-72523565
34	POLR2A	chr15:72522706-72524263	K562	blood:	n/a	n/a
35	EGR1	chr15:72522539-72523094	ECC-1	luminal epithelium:	n/a	chr15:72522785-72522799 chr15:72522819-72522833
36	ATF3	chr15:72522908-72524371	A549	lung:	n/a	chr15:72523632-72523641 chr15:72523810-72523819
37	BCLAF1	chr15:72520084-72524529	GM12878	blood:	n/a	chr15:72522589-72522602 chr15:72523584-72523593 chr15:72523587-72523596 chr15:72523680-72523693 chr15:72523789-72523802 chr15:72523682-72523691 chr15:72523677-72523690 chr15:72523679-72523688 chr15:72523585-72523598 chr15:72523647-72523660 chr15:72523681-72523694 chr15:72522432-72522445 chr15:72523685-72523694 chr15:72523678-72523691
38	MTA3	chr15:72520093-72524888	GM12878	blood:	n/a	n/a
39	POLR2A	chr15:72522313-72524383	HepG2	liver:	n/a	n/a
40	STAT5A	chr15:72520090-72524264	GM12878	blood:	n/a	chr15:72523203-72523215 chr15:72523991-72524003
41	FOXM1	chr15:72522635-72523929	GM12878	blood:	n/a	n/a
42	WRNIP1	chr15:72522810-72524375	GM12878	blood:	n/a	n/a
43	POLR2A	chr15:72520103-72524366	GM12892	blood:	n/a	n/a
44	MXI1	chr15:72520376-72524809	GM12878	blood:	n/a	chr15:72521431-72521440 chr15:72521429-72521438
45	BCL11A	chr15:72522731-72522944	GM12878	blood:	n/a	n/a
46	TAF1	chr15:72522359-72524431	SK-N-SH	brain:	n/a	n/a
47	MYC	chr15:72522381-72524220	K562	blood:	n/a	chr15:72523592-72523602
48	CHD2	chr15:72522326-72524169	GM12878	blood:	n/a	n/a
49	POLR2A	chr15:72522817-72523779	H1-hESC	embryonic stem cell:	n/a	n/a
50	TCF12	chr15:72522170-72524881	ECC-1	luminal epithelium:	n/a	chr15:72523922-72523932 chr15:72523169-72523179

No.	Distal block	Cell Line	Cell type
1	chr15:72501144..72502803-chr15:72520575..72523218,2	K562	blood:
2	chr15:72408747..72410825-chr15:72521864..72524427,3	MCF-7	breast:
3	chr15:72494801..72498747-chr15:72521044..72524691,4	K562	blood:
4	chr1:210547187..210547872-chr15:72522615..72523545,2	Hela-S3	cervix:
5	chr15:72520927..72524574-chr15:72541674..72546336,5	MCF-7	breast:
6	chr15:72520952..72523242-chr15:72542014..72544162,2	K562	blood:
7	chr15:72519778..72525226-chr15:72547384..72553620,8	MCF-7	breast:
8	chr15:72498006..72500536-chr15:72520929..72523260,2	K562	blood:
9	chr15:72521683..72524680-chr15:72976957..72979803,2	K562	blood:
10	chr15:72522738..72523426-chr6:27781752..27782254,2	Hela-S3	cervix:
11	chr15:72521910..72524475-chr15:72556723..72559528,2	MCF-7	breast:
12	chr15:72521977..72524663-chr15:72766747..72769820,3	MCF-7	breast:
13	chr15:72522737..72523378-chr9:139137266..139137913,2	Hela-S3	cervix:
14	chr15:72508936..72512734-chr15:72522012..72524775,3	K562	blood:
15	chr15:65587975..65588913-chr15:72522631..72523731,3	Hela-S3	cervix:
16	chr15:72519310..72525410-chr15:72562881..72568730,22	MCF-7	breast:
17	chr15:72518424..72531344-chr15:72562525..72571046,23	K562	blood:
18	chr15:72520897..72524301-chr15:72765072..72768298,5	K562	blood:
19	chr12:52453265..52454206-chr15:72522776..72523757,2	Hela-S3	cervix:
20	chr15:72521996..72524543-chr15:72977386..72979463,3	MCF-7	breast:
21	chr15:42565402..42566039-chr15:72522375..72523304,2	Hela-S3	cervix:
22	chr15:72522737..72523306-chr19:38794868..38795737,2	Hela-S3	cervix:
23	chr15:72514333..72526693-chr15:72558323..72568559,52	MCF-7	breast:
24	chr15:72520024..72526293-chr15:72562525..72566333,14	K562	blood:
25	chr15:72521799..72524132-chr15:72546002..72548931,2	K562	blood:
26	chr15:72520807..72523133-chr15:72610343..72613586,3	MCF-7	breast:
27	chr15:72522084..72524504-chr15:72637723..72639391,2	MCF-7	breast:
28	chr15:72509056..72514932-chr15:72519551..72525663,8	K562	blood:
29	chr15:72522872..72523763-chr9:128023946..128024655,2	Hela-S3	cervix:
30	chr15:72522529..72523341-chr9:3526359..3526997,2	HCT-116	colon:

Variant related genes	Relation type
PKM	TF binding region
ENSG00000214013	Chromatin interaction
ENSG00000067225	Chromatin interaction
ENSG00000137817	Chromatin interaction
ENSG00000199568	Chromatin interaction
ENSG00000166192	Chromatin interaction
ENSG00000166233	Chromatin interaction
ENSG00000165661	Chromatin interaction
ENSG00000213614	Chromatin interaction
ENSG00000066933	Chromatin interaction
ENSG00000175202	Chromatin interaction
ENSG00000259884	Chromatin interaction
ENSG00000232104	Chromatin interaction
ENSG00000165219	Chromatin interaction
ENSG00000273025	Chromatin interaction
ENSG00000103978	Chromatin interaction
ENSG00000261423	Chromatin interaction
ENSG00000140488	Chromatin interaction
ENSG00000140463	Chromatin interaction
ENSG00000200972	Chromatin interaction
ENSG00000167644	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10152588	1.00[EUR][1000 genomes]
rs12101457	1.00[AMR][1000 genomes]
rs12101672	1.00[AMR][1000 genomes]
rs12102191	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12102206	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16956667	1.00[EUR][1000 genomes]
rs2009365	1.00[EUR][1000 genomes]
rs2162236	1.00[EUR][1000 genomes]
rs28368570	1.00[AMR][1000 genomes]
rs28435418	1.00[EUR][1000 genomes]
rs28446198	1.00[AMR][1000 genomes]
rs28478343	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28493313	1.00[AMR][1000 genomes]
rs28526815	1.00[AMR][1000 genomes]
rs28562796	1.00[EUR][1000 genomes]
rs28564635	1.00[AMR][1000 genomes]
rs28613926	0.87[AMR][1000 genomes]
rs28626831	1.00[EUR][1000 genomes]
rs28636457	1.00[AMR][1000 genomes]
rs28663089	1.00[EUR][1000 genomes]
rs28748021	1.00[AMR][1000 genomes]
rs28758400	1.00[AMR][1000 genomes]
rs28897422	1.00[AMR][1000 genomes]
rs59262103	1.00[EUR][1000 genomes]
rs60790003	1.00[EUR][1000 genomes]
rs61100297	1.00[EUR][1000 genomes]
rs6494999	1.00[EUR][1000 genomes]
rs7175677	1.00[EUR][1000 genomes]
rs7182307	1.00[EUR][1000 genomes]
rs73440566	1.00[EUR][1000 genomes]
rs8039839	1.00[EUR][1000 genomes]
rs8192417	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8192427	1.00[AMR][1000 genomes];1.00[EUR][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	nsv431395	chr15:72266174-72701777	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
2	nsv530817	chr15:72350885-72773374	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
3	esv3430860	chr15:72373723-72849907	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	172 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:72519600-72524800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr15:72520200-72523400	Flanking Active TSS	Primary B cells from cord blood	blood
3	chr15:72520600-72524400	Active TSS	Breast Myoepithelial Primary Cells	Breast
4	chr15:72520800-72524600	Active TSS	Placenta Amnion	Placenta Amnion
5	chr15:72520800-72525000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr15:72521000-72525000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr15:72521200-72524200	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
8	chr15:72521200-72524600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
9	chr15:72521400-72523200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr15:72521400-72524400	Active TSS	Esophagus	oesophagus
11	chr15:72521400-72524400	Active TSS	Gastric	stomach
12	chr15:72521400-72524600	Active TSS	Psoas Muscle	Psoas
13	chr15:72521400-72524800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr15:72521400-72525000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr15:72521600-72524400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr15:72521600-72524800	Active TSS	HSMM	muscle
17	chr15:72521800-72524200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr15:72521800-72524200	Active TSS	Duodenum Smooth Muscle	Duodenum
19	chr15:72521800-72524400	Active TSS	ES-I3 Cell Line	embryonic stem cell
20	chr15:72521800-72524400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr15:72521800-72524400	Active TSS	iPS-15b Cell Line	embryonic stem cell
22	chr15:72521800-72524400	Active TSS	Lung	lung
23	chr15:72521800-72524400	Active TSS	Ovary	ovary
24	chr15:72521800-72524400	Active TSS	HSMMtube	muscle
25	chr15:72521800-72524600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr15:72521800-72524600	Flanking Active TSS	Primary hematopoietic stem cells	blood
27	chr15:72521800-72524600	Active TSS	Aorta	Aorta
28	chr15:72521800-72524800	Active TSS	Pancreatic Islets	Pancreatic Islet
29	chr15:72521800-72524800	Active TSS	NHDF-Ad	bronchial
30	chr15:72522000-72523800	Active TSS	Primary T helper cells PMA-I stimulated	--
31	chr15:72522000-72523800	Active TSS	Fetal Muscle Trunk	muscle
32	chr15:72522000-72523800	Active TSS	Fetal Thymus	thymus
33	chr15:72522000-72524000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr15:72522000-72524000	Active TSS	Primary T killer naive cells fromperipheralblood	blood
35	chr15:72522000-72524000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr15:72522000-72524000	Active TSS	Brain Angular Gyrus	brain
37	chr15:72522000-72524000	Active TSS	Brain Anterior Caudate	brain
38	chr15:72522000-72524000	Active TSS	Stomach Smooth Muscle	stomach
39	chr15:72522000-72524000	Active TSS	Thymus	Thymus
40	chr15:72522000-72524000	Active TSS	HMEC	breast
41	chr15:72522000-72524200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr15:72522000-72524200	Active TSS	Primary T cells from cord blood	blood
43	chr15:72522000-72524200	Active TSS	Primary T helper naive cells from peripheral blood	blood
44	chr15:72522000-72524200	Active TSS	Brain Cingulate Gyrus	brain
45	chr15:72522000-72524200	Active TSS	Colon Smooth Muscle	Colon
46	chr15:72522000-72524200	Active TSS	Fetal Brain Female	brain
47	chr15:72522000-72524200	Active TSS	Fetal Heart	heart
48	chr15:72522000-72524200	Active TSS	Fetal Kidney	kidney
49	chr15:72522000-72524200	Active TSS	Fetal Lung	lung
50	chr15:72522000-72524200	Active TSS	Fetal Stomach	stomach

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