Variant report

Variant	rs8192346
Chromosome Location	chr15:72524102-72524103
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	YY1	chr15:72523264-72524170	ECC-1	luminal epithelium:	n/a	chr15:72523810-72523824 chr15:72523691-72523705 chr15:72523678-72523692 chr15:72523630-72523644 chr15:72523585-72523596 chr15:72523678-72523687 chr15:72523681-72523690 chr15:72523684-72523693 chr15:72523632-72523641 chr15:72523679-72523690 chr15:72523591-72523605 chr15:72523682-72523693
2	POLR2A	chr15:72522332-72524271	HepG2	liver:	n/a	n/a
3	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
4	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
5	E2F6	chr15:72523343-72524320	A549	lung:	n/a	chr15:72523682-72523692 chr15:72523810-72523819 chr15:72523679-72523689 chr15:72523632-72523641
6	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
7	RELA	chr15:72522442-72524465	GM12892	blood:	n/a	n/a
8	POLR2A	chr15:72522254-72524830	MCF10A-Er-Src	breast:	n/a	n/a
9	MAX	chr15:72522341-72524956	A549	lung:	n/a	chr15:72523592-72523602
10	TBP	chr15:72522819-72524247	GM12878	blood:	n/a	n/a
11	TAF1	chr15:72522292-72524155	HepG2	liver:	n/a	n/a
12	TFAP2C	chr15:72523082-72524782	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chr15:72520234-72524268	GM19193	blood:	n/a	n/a
14	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
15	POLR2A	chr15:72517579-72524300	GM12892	blood:	n/a	n/a
16	ATF2	chr15:72523237-72524141	GM12878	blood:	n/a	n/a
17	POLR2A	chr15:72520449-72524305	GM15510	blood:	n/a	n/a
18	POLR2A	chr15:72522234-72525097	Hela-S3	cervix:	n/a	n/a
19	NFYB	chr15:72523200-72524109	K562	blood:	n/a	n/a
20	ELK4	chr15:72523335-72524417	Hela-S3	cervix:	n/a	n/a
21	POLR2A	chr15:72522299-72524149	HepG2	liver:	n/a	n/a
22	TAF1	chr15:72523284-72524333	Hela-S3	cervix:	n/a	n/a
23	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
24	ELF1	chr15:72524030-72524363	K562	blood:	n/a	n/a
25	PBX3	chr15:72522452-72524879	A549	lung:	n/a	n/a
26	MAX	chr15:72522272-72524349	HepG2	liver:	n/a	chr15:72523592-72523602
27	TEAD4	chr15:72523270-72524204	K562	blood:	n/a	n/a
28	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
29	MAX	chr15:72522218-72524881	MCF-7	breast:	n/a	chr15:72523592-72523602
30	TCF12	chr15:72522303-72524604	MCF-7	breast:	n/a	chr15:72523922-72523932 chr15:72523169-72523179
31	NFYA	chr15:72523343-72524596	Hela-S3	cervix:	n/a	n/a
32	POLR2A	chr15:72524068-72524284	H1-hESC	embryonic stem cell:	n/a	n/a
33	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
34	POLR2A	chr15:72523329-72524306	H1-hESC	embryonic stem cell:	n/a	n/a
35	ZBTB7A	chr15:72523361-72524408	ECC-1	luminal epithelium:	n/a	n/a
36	CCNT2	chr15:72521891-72524989	K562	blood:	n/a	chr15:72523207-72523216 chr15:72523632-72523641 chr15:72522183-72522192
37	MXI1	chr15:72523369-72524310	H1-hESC	embryonic stem cell:	n/a	n/a
38	ZKSCAN1	chr15:72522771-72524770	Hela-S3	cervix:	n/a	chr15:72523552-72523565
39	POLR2A	chr15:72522706-72524263	K562	blood:	n/a	n/a
40	JUND	chr15:72523289-72524241	A549	lung:	n/a	chr15:72523589-72523598
41	POLR2A	chr15:72523768-72524258	A549	lung:	n/a	n/a
42	ATF3	chr15:72522908-72524371	A549	lung:	n/a	chr15:72523632-72523641 chr15:72523810-72523819
43	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
44	MTA3	chr15:72520093-72524888	GM12878	blood:	n/a	n/a
45	POLR2A	chr15:72522313-72524383	HepG2	liver:	n/a	n/a
46	STAT5A	chr15:72520090-72524264	GM12878	blood:	n/a	chr15:72523203-72523215 chr15:72523991-72524003
47	RELA	chr15:72523281-72524536	GM10847	blood:	n/a	n/a
48	WRNIP1	chr15:72522810-72524375	GM12878	blood:	n/a	n/a
49	POLR2A	chr15:72520103-72524366	GM12892	blood:	n/a	n/a
50	CEBPB	chr15:72523418-72524104	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:65002667..65003975-chr15:72523179..72524331,3	Hela-S3	cervix:
2	chr15:72408747..72410825-chr15:72521864..72524427,3	MCF-7	breast:
3	chr1:149858832..149859697-chr15:72523211..72524298,4	Hela-S3	cervix:
4	chr15:72494801..72498747-chr15:72521044..72524691,4	K562	blood:
5	chr15:72520927..72524574-chr15:72541674..72546336,5	MCF-7	breast:
6	chr15:72519778..72525226-chr15:72547384..72553620,8	MCF-7	breast:
7	chr1:153949095..153950234-chr15:72523042..72524218,4	Hela-S3	cervix:
8	chr1:166808206..166809091-chr15:72523170..72524154,2	Hela-S3	cervix:
9	chr1:249132554..249133155-chr15:72523767..72524347,2	Hela-S3	cervix:
10	chr1:229643673..229644605-chr15:72523998..72524686,2	Hela-S3	cervix:
11	chr15:72523860..72524413-chr15:72668313..72668819,2	Hela-S3	cervix:
12	chr15:72521683..72524680-chr15:72976957..72979803,2	K562	blood:
13	chr15:72523266..72524516-chr17:62223169..62223956,3	Hela-S3	cervix:
14	chr11:33060654..33061536-chr15:72523729..72524361,2	Hela-S3	cervix:
15	chr15:72521910..72524475-chr15:72556723..72559528,2	MCF-7	breast:
16	chr15:72523731..72525453-chr15:74219224..74220936,2	MCF-7	breast:
17	chr15:72521977..72524663-chr15:72766747..72769820,3	MCF-7	breast:
18	chr14:105219418..105220276-chr15:72523980..72524606,2	Hela-S3	cervix:
19	chr15:72523746..72524626-chr17:48942946..48943899,3	Hela-S3	cervix:
20	chr15:72508936..72512734-chr15:72522012..72524775,3	K562	blood:
21	chr14:64970339..64971228-chr15:72523918..72524433,2	Hela-S3	cervix:
22	chr15:72519310..72525410-chr15:72562881..72568730,22	MCF-7	breast:
23	chr15:72518424..72531344-chr15:72562525..72571046,23	K562	blood:
24	chr15:72523634..72524153-chr2:10260386..10260914,2	Hela-S3	cervix:
25	chr15:72523793..72524699-chr2:9770627..9771470,2	Hela-S3	cervix:
26	chr15:72520897..72524301-chr15:72765072..72768298,5	K562	blood:
27	chr15:72523582..72526035-chr15:72559818..72561426,2	K562	blood:
28	chr14:74551467..74552216-chr15:72523755..72524462,2	Hela-S3	cervix:
29	chr15:72523282..72524844-chr15:72764635..72767200,2	MCF-7	breast:
30	chr1:76251676..76252625-chr15:72523942..72524487,2	Hela-S3	cervix:
31	chr13:45010518..45011086-chr15:72523669..72524463,2	Hela-S3	cervix:
32	chr15:72521996..72524543-chr15:72977386..72979463,3	MCF-7	breast:
33	chr15:72523802..72524539-chr19:49954586..49955194,2	Hela-S3	cervix:
34	chr15:72523735..72524367-chr5:41870011..41870770,3	Hela-S3	cervix:
35	chr15:72523319..72524284-chr9:131709550..131710057,2	HCT-116	colon:
36	chr15:72523204..72524164-chr9:88896976..88897539,2	Hela-S3	cervix:
37	chr15:72514333..72526693-chr15:72558323..72568559,52	MCF-7	breast:
38	chr15:72520024..72526293-chr15:72562525..72566333,14	K562	blood:
39	chr15:72521799..72524132-chr15:72546002..72548931,2	K562	blood:
40	chr15:72522084..72524504-chr15:72637723..72639391,2	MCF-7	breast:
41	chr15:72523692..72524414-chr18:3451263..3452137,2	Hela-S3	cervix:
42	chr15:72523203..72524330-chr6:11093594..11094680,3	Hela-S3	cervix:
43	chr15:72523201..72524932-chr15:72878327..72881016,2	MCF-7	breast:
44	chr15:72523358..72524230-chr20:30192852..30193394,2	HCT-116	colon:
45	chr15:72509056..72514932-chr15:72519551..72525663,8	K562	blood:
46	chr1:11967995..11968690-chr15:72523442..72524584,3	Hela-S3	cervix:
47	chr15:72524064..72524717-chr4:111119820..111120443,2	Hela-S3	cervix:
48	chr15:72523714..72524571-chr5:179050555..179051464,2	Hela-S3	cervix:

Variant related genes	Relation type
PKM	TF binding region
ENSG00000178096	Chromatin interaction
ENSG00000141232	Chromatin interaction
ENSG00000102804	Chromatin interaction
ENSG00000171161	Chromatin interaction
ENSG00000261423	Chromatin interaction
ENSG00000143157	Chromatin interaction
ENSG00000199347	Chromatin interaction
ENSG00000125968	Chromatin interaction
ENSG00000137955	Chromatin interaction
ENSG00000066933	Chromatin interaction
ENSG00000248668	Chromatin interaction
ENSG00000177426	Chromatin interaction
ENSG00000069248	Chromatin interaction
ENSG00000067225	Chromatin interaction
ENSG00000205659	Chromatin interaction
ENSG00000083720	Chromatin interaction
ENSG00000135070	Chromatin interaction
ENSG00000224531	Chromatin interaction
ENSG00000140463	Chromatin interaction
ENSG00000223635	Chromatin interaction
ENSG00000095319	Chromatin interaction
ENSG00000169045	Chromatin interaction
ENSG00000089775	Chromatin interaction
ENSG00000170522	Chromatin interaction
ENSG00000104872	Chromatin interaction
ENSG00000261801	Chromatin interaction
ENSG00000166233	Chromatin interaction
ENSG00000260729	Chromatin interaction
ENSG00000184270	Chromatin interaction
ENSG00000175283	Chromatin interaction
ENSG00000199753	Chromatin interaction
ENSG00000207690	Chromatin interaction
ENSG00000272654	Chromatin interaction
ENSG00000126804	Chromatin interaction
ENSG00000137817	Chromatin interaction
ENSG00000266402	Chromatin interaction
ENSG00000260339	Chromatin interaction
ENSG00000176148	Chromatin interaction
ENSG00000134308	Chromatin interaction
ENSG00000166192	Chromatin interaction
ENSG00000184990	Chromatin interaction
ENSG00000256670	Chromatin interaction
ENSG00000175202	Chromatin interaction
ENSG00000272524	Chromatin interaction
ENSG00000143543	Chromatin interaction
ENSG00000213614	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs28552371	1.00[CHD][hapmap]

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	chr15:72520600-72524400	Active TSS	Breast Myoepithelial Primary Cells	Breast
3	chr15:72520800-72524600	Active TSS	Placenta Amnion	Placenta Amnion
4	chr15:72520800-72525000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr15:72521000-72525000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr15:72521200-72524200	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
7	chr15:72521200-72524600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
8	chr15:72521400-72524400	Active TSS	Esophagus	oesophagus
9	chr15:72521400-72524400	Active TSS	Gastric	stomach
10	chr15:72521400-72524600	Active TSS	Psoas Muscle	Psoas
11	chr15:72521400-72524800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr15:72521400-72525000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr15:72521600-72524400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr15:72521600-72524800	Active TSS	HSMM	muscle
15	chr15:72521800-72524200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr15:72521800-72524200	Active TSS	Duodenum Smooth Muscle	Duodenum
17	chr15:72521800-72524400	Active TSS	ES-I3 Cell Line	embryonic stem cell
18	chr15:72521800-72524400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr15:72521800-72524400	Active TSS	iPS-15b Cell Line	embryonic stem cell
20	chr15:72521800-72524400	Active TSS	Lung	lung
21	chr15:72521800-72524400	Active TSS	Ovary	ovary
22	chr15:72521800-72524400	Active TSS	HSMMtube	muscle
23	chr15:72521800-72524600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr15:72521800-72524600	Flanking Active TSS	Primary hematopoietic stem cells	blood
25	chr15:72521800-72524600	Active TSS	Aorta	Aorta
26	chr15:72521800-72524800	Active TSS	Pancreatic Islets	Pancreatic Islet
27	chr15:72521800-72524800	Active TSS	NHDF-Ad	bronchial
28	chr15:72522000-72524200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr15:72522000-72524200	Active TSS	Primary T cells from cord blood	blood
30	chr15:72522000-72524200	Active TSS	Primary T helper naive cells from peripheral blood	blood
31	chr15:72522000-72524200	Active TSS	Brain Cingulate Gyrus	brain
32	chr15:72522000-72524200	Active TSS	Colon Smooth Muscle	Colon
33	chr15:72522000-72524200	Active TSS	Fetal Brain Female	brain
34	chr15:72522000-72524200	Active TSS	Fetal Heart	heart
35	chr15:72522000-72524200	Active TSS	Fetal Kidney	kidney
36	chr15:72522000-72524200	Active TSS	Fetal Lung	lung
37	chr15:72522000-72524200	Active TSS	Fetal Stomach	stomach
38	chr15:72522000-72524200	Active TSS	Rectal Smooth Muscle	rectum
39	chr15:72522000-72524200	Active TSS	Spleen	Spleen
40	chr15:72522000-72524200	Active TSS	GM12878-XiMat	blood
41	chr15:72522000-72524200	Active TSS	HUVEC	blood vessel
42	chr15:72522000-72524200	Active TSS	Osteobl	bone
43	chr15:72522000-72524400	Active TSS	H1 Cell Line	embryonic stem cell
44	chr15:72522000-72524400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr15:72522000-72524400	Active TSS	H9 Cell Line	embryonic stem cell
46	chr15:72522000-72524400	Active TSS	HUES48 Cell Line	embryonic stem cell
47	chr15:72522000-72524400	Active TSS	HUES6 Cell Line	embryonic stem cell
48	chr15:72522000-72524400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr15:72522000-72524400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr15:72522000-72524400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood

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