Variant report

Variant	rs8192352
Chromosome Location	chr15:72521861-72521862
allele	C/T
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	SIN3AK20	chr15:72520760-72522098	A549	lung:	n/a	n/a
2	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
3	CUX1	chr15:72520845-72521923	K562	blood:	n/a	n/a
4	NFIC	chr15:72520061-72522481	GM12878	blood:	n/a	n/a
5	POLR2A	chr15:72520234-72524268	GM19193	blood:	n/a	n/a
6	POLR2A	chr15:72518413-72522208	HepG2	liver:	n/a	n/a
7	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
8	POLR2A	chr15:72517579-72524300	GM12892	blood:	n/a	n/a
9	POLR2A	chr15:72520449-72524305	GM15510	blood:	n/a	n/a
10	POLR2A	chr15:72520436-72522156	GM12878	blood:	n/a	n/a
11	MXI1	chr15:72521374-72521943	HepG2	liver:	n/a	chr15:72521431-72521440 chr15:72521429-72521438
12	FOSL2	chr15:72520081-72522273	A549	lung:	n/a	chr15:72520959-72520967 chr15:72520847-72520859 chr15:72520957-72520969 chr15:72520955-72520966 chr15:72520958-72520968 chr15:72520960-72520967 chr15:72520849-72520857
13	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
14	MTA3	chr15:72520093-72524888	GM12878	blood:	n/a	n/a
15	RELA	chr15:72520277-72522158	GM19099	blood:	n/a	n/a
16	STAT5A	chr15:72520090-72524264	GM12878	blood:	n/a	chr15:72523203-72523215 chr15:72523991-72524003
17	POLR2A	chr15:72520103-72524366	GM12892	blood:	n/a	n/a
18	MXI1	chr15:72520376-72524809	GM12878	blood:	n/a	chr15:72521431-72521440 chr15:72521429-72521438
19	TBP	chr15:72520507-72522049	Hela-S3	cervix:	n/a	n/a
20	MAX	chr15:72521313-72521944	H1-hESC	embryonic stem cell:	n/a	chr15:72521428-72521441 chr15:72521429-72521440 chr15:72521431-72521440 chr15:72521428-72521438 chr15:72521430-72521439 chr15:72521425-72521444 chr15:72521429-72521439 chr15:72521429-72521440
21	POLR2A	chr15:72520240-72524727	GM18505	blood:	n/a	n/a
22	POLR2A	chr15:72520542-72525140	HUVEC	blood vessel:	n/a	n/a
23	RUNX3	chr15:72520330-72524367	GM12878	blood:	n/a	n/a
24	POLR2A	chr15:72520068-72525092	U87	brain:	n/a	n/a
25	MXI1	chr15:72520100-72525104	IMR90	lung:	n/a	chr15:72521431-72521440 chr15:72521429-72521438
26	POLR2A	chr15:72517612-72524924	GM12892	blood:	n/a	n/a
27	CEBPB	chr15:72520142-72522021	GM12878	blood:	n/a	n/a
28	TAF1	chr15:72521785-72522212	GM12878	blood:	n/a	n/a
29	POLR2A	chr15:72520310-72524267	GM12892	blood:	n/a	n/a
30	SIN3AK20	chr15:72520751-72522179	A549	lung:	n/a	n/a
31	RELA	chr15:72520273-72522082	GM18505	blood:	n/a	n/a
32	EP300	chr15:72520310-72522127	GM12878	blood:	n/a	n/a
33	POLR2A	chr15:72517567-72525077	U87	brain:	n/a	n/a
34	FOS	chr15:72520228-72521938	HUVEC	blood vessel:	n/a	chr15:72520959-72520967 chr15:72520847-72520859 chr15:72520957-72520969 chr15:72520955-72520966 chr15:72520958-72520968 chr15:72520957-72520968 chr15:72520960-72520967 chr15:72520849-72520857
35	POLR2A	chr15:72520090-72525590	Hela-S3	cervix:	n/a	n/a
36	MAX	chr15:72520235-72525247	A549	lung:	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 chr15:72520676-72520687 chr15:72521425-72521444 chr15:72521429-72521439 chr15:72521429-72521440
37	POLR2A	chr15:72520732-72524941	HCT-116	colon:	n/a	n/a
38	BCLAF1	chr15:72520227-72522121	GM12878	blood:	n/a	n/a
39	POLR2A	chr15:72520340-72524323	GM12878	blood:	n/a	n/a
40	POLR2A	chr15:72520104-72522148	PANC-1	pancreas:	n/a	n/a
41	MAZ	chr15:72521783-72524340	GM12878	blood:	n/a	chr15:72523592-72523602 chr15:72521988-72521998 chr15:72522194-72522204
42	PML	chr15:72521661-72522129	GM12878	blood:	n/a	n/a
43	GATA3	chr15:72520441-72522082	SK-N-SH	brain:	n/a	n/a
44	SP1	chr15:72520545-72522346	A549	lung:	n/a	chr15:72520982-72520992 chr15:72522159-72522173 chr15:72521988-72522002
45	MYC	chr15:72521724-72521887	HUVEC	blood vessel:	n/a	n/a
46	TAF1	chr15:72521826-72522112	GM12891	blood:	n/a	n/a
47	STAT5A	chr15:72521528-72522103	GM12878	blood:	n/a	n/a
48	POLR2A	chr15:72521704-72523945	H1-neurons	neurons:	n/a	n/a
49	POLR2A	chr15:72520104-72524180	GM12892	blood:	n/a	n/a
50	POLR2A	chr15:72520125-72522224	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:72501144..72502803-chr15:72520575..72523218,2	K562	blood:
2	chr15:72494801..72498747-chr15:72521044..72524691,4	K562	blood:
3	chr15:72520927..72524574-chr15:72541674..72546336,5	MCF-7	breast:
4	chr15:72520952..72523242-chr15:72542014..72544162,2	K562	blood:
5	chr15:72519778..72525226-chr15:72547384..72553620,8	MCF-7	breast:
6	chr15:72521202..72522850-chr15:72557519..72559281,2	K562	blood:
7	chr15:72498006..72500536-chr15:72520929..72523260,2	K562	blood:
8	chr15:72521683..72524680-chr15:72976957..72979803,2	K562	blood:
9	chr15:72519150..72522130-chr17:57913936..57915529,2	MCF-7	breast:
10	chr15:72519310..72525410-chr15:72562881..72568730,22	MCF-7	breast:
11	chr15:72518424..72531344-chr15:72562525..72571046,23	K562	blood:
12	chr15:72520897..72524301-chr15:72765072..72768298,5	K562	blood:
13	chr15:72514333..72526693-chr15:72558323..72568559,52	MCF-7	breast:
14	chr15:72520024..72526293-chr15:72562525..72566333,14	K562	blood:
15	chr15:72521799..72524132-chr15:72546002..72548931,2	K562	blood:
16	chr15:72520807..72523133-chr15:72610343..72613586,3	MCF-7	breast:
17	chr15:72509056..72514932-chr15:72519551..72525663,8	K562	blood:

Variant related genes	Relation type
PKM	TF binding region
ENSG00000067225	Chromatin interaction
ENSG00000140488	Chromatin interaction
ENSG00000062716	Chromatin interaction
ENSG00000137817	Chromatin interaction
ENSG00000140463	Chromatin interaction
ENSG00000166233	Chromatin interaction
ENSG00000273025	Chromatin interaction
ENSG00000175202	Chromatin interaction
ENSG00000261423	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs8192421	1.00[ASN][1000 genomes]
rs8192425	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.82[ASN][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	chr15:72517800-72522600	Transcr. at gene 5' and 3'	A549	lung
2	chr15:72518600-72522200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
3	chr15:72518800-72522600	Transcr. at gene 5' and 3'	Dnd41	blood
4	chr15:72519000-72522000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr15:72519000-72522400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
6	chr15:72519200-72522000	Flanking Active TSS	NHLF	lung
7	chr15:72519200-72522200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr15:72519400-72522200	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr15:72519600-72524800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr15:72520000-72522000	Flanking Active TSS	HUVEC	blood vessel
11	chr15:72520000-72522000	Transcr. at gene 5' and 3'	K562	blood
12	chr15:72520000-72522200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
13	chr15:72520200-72522000	Flanking Active TSS	Primary T cells from cord blood	blood
14	chr15:72520200-72522000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
15	chr15:72520200-72522000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
16	chr15:72520200-72522000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
17	chr15:72520200-72522000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr15:72520200-72522000	Flanking Active TSS	Brain Germinal Matrix	brain
19	chr15:72520200-72522000	Flanking Active TSS	Fetal Heart	heart
20	chr15:72520200-72522000	Transcr. at gene 5' and 3'	Hela-S3	cervix
21	chr15:72520200-72522000	Transcr. at gene 5' and 3'	HMEC	breast
22	chr15:72520200-72522000	Transcr. at gene 5' and 3'	NHEK	skin
23	chr15:72520200-72522200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
24	chr15:72520200-72522200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
25	chr15:72520200-72522200	Flanking Active TSS	Duodenum Mucosa	Duodenum
26	chr15:72520200-72522200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
27	chr15:72520200-72523400	Flanking Active TSS	Primary B cells from cord blood	blood
28	chr15:72520400-72522000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr15:72520400-72522000	Flanking Active TSS	Fetal Brain Female	brain
30	chr15:72520400-72522000	Flanking Active TSS	Fetal Thymus	thymus
31	chr15:72520400-72522000	Flanking Active TSS	Left Ventricle	heart
32	chr15:72520400-72522000	Flanking Active TSS	Stomach Smooth Muscle	stomach
33	chr15:72520400-72522200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
34	chr15:72520400-72522200	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr15:72520400-72522200	Flanking Active TSS	Fetal Muscle Leg	muscle
36	chr15:72520600-72522000	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
37	chr15:72520600-72524400	Active TSS	Breast Myoepithelial Primary Cells	Breast
38	chr15:72520800-72522000	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr15:72520800-72522200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
40	chr15:72520800-72522200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
41	chr15:72520800-72524600	Active TSS	Placenta Amnion	Placenta Amnion
42	chr15:72520800-72525000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr15:72521000-72522000	Flanking Active TSS	H1 Cell Line	embryonic stem cell
44	chr15:72521000-72522000	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
45	chr15:72521000-72522000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr15:72521000-72522000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
47	chr15:72521000-72522000	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
48	chr15:72521000-72522000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
49	chr15:72521000-72522000	Flanking Active TSS	Brain Angular Gyrus	brain
50	chr15:72521000-72522000	Flanking Active TSS	Brain Anterior Caudate	brain

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