Variant report

Variant	esv3344182
Chromosome Location	chr15:72500898-72502846
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:111)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:111 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr15:72501066-72501251	ECC-1	luminal epithelium:	n/a	n/a
2	CTCF	chr15:72502644-72502851	T-47D	breast:	n/a	n/a
3	CTCF	chr15:72500895-72501251	T-47D	breast:	n/a	n/a
4	FOXA2	chr15:72502736-72503775	HepG2	liver:	n/a	n/a
5	HDAC2	chr15:72502794-72503495	MCF-7	breast:	n/a	chr15:72503150-72503164
6	NFYA	chr15:72502155-72502355	Hela-S3	cervix:	n/a	n/a
7	POLR2A	chr15:72500860-72501148	HUVEC	blood vessel:	n/a	n/a
8	POLR2A	chr15:72500815-72501341	A549	lung:	n/a	n/a
9	POLR2A	chr15:72501191-72501324	GM12878	blood:	n/a	n/a
10	POLR2A	chr15:72501829-72502286	Hela-S3	cervix:	n/a	n/a
11	POLR2A	chr15:72502578-72503026	A549	lung:	n/a	n/a
12	POLR2A	chr15:72502667-72502673	MCF-7	breast:	n/a	n/a
13	POLR2A	chr15:72501810-72525301	U87	brain:	n/a	n/a
14	POLR2A	chr15:72501024-72501432	GM12878	blood:	n/a	n/a
15	POLR2A	chr15:72500771-72501332	PFSK-1	brain:	n/a	n/a
16	POLR2A	chr15:72501177-72501386	GM12878	blood:	n/a	n/a
17	POLR2A	chr15:72501285-72501293	MCF-7	breast:	n/a	n/a
18	POLR2A	chr15:72502221-72502707	GM12878	blood:	n/a	n/a
19	POLR2A	chr15:72502403-72502739	SK-N-SH	brain:	n/a	n/a
20	POLR2A	chr15:72500719-72501650	HepG2	liver:	n/a	n/a
21	POLR2A	chr15:72501042-72501204	A549	lung:	n/a	n/a
22	POLR2A	chr15:72501945-72503444	GM12878	blood:	n/a	n/a
23	POLR2A	chr15:72501213-72501330	A549	lung:	n/a	n/a
24	POLR2A	chr15:72502652-72503428	HepG2	liver:	n/a	n/a
25	POLR2A	chr15:72502702-72502715	Hela-S3	cervix:	n/a	n/a
26	POLR2A	chr15:72501793-72502340	SK-N-SH	brain:	n/a	n/a
27	POLR2A	chr15:72500434-72501022	HCT-116	colon:	n/a	n/a
28	POLR2A	chr15:72490001-72501490	GM12891	blood:	n/a	n/a
29	POLR2A	chr15:72502516-72503006	GM12878	blood:	n/a	n/a
30	POLR2A	chr15:72502044-72502214	HepG2	liver:	n/a	n/a
31	POLR2A	chr15:72501796-72502393	PFSK-1	brain:	n/a	n/a
32	POLR2A	chr15:72500988-72501192	HepG2	liver:	n/a	n/a
33	POLR2A	chr15:72500990-72501320	GM12891	blood:	n/a	n/a
34	POLR2A	chr15:72489656-72501421	GM12878	blood:	n/a	n/a
35	POLR2A	chr15:72502034-72502083	Hela-S3	cervix:	n/a	n/a
36	POLR2A	chr15:72501609-72501643	HUVEC	blood vessel:	n/a	n/a
37	POLR2A	chr15:72500833-72501466	Hela-S3	cervix:	n/a	n/a
38	POLR2A	chr15:72500779-72501499	SK-N-MC	brain:	n/a	n/a
39	POLR2A	chr15:72488729-72501598	U87	brain:	n/a	n/a
40	POLR2A	chr15:72501206-72501207	MCF-7	breast:	n/a	n/a
41	POLR2A	chr15:72501827-72502254	HepG2	liver:	n/a	n/a
42	POLR2A	chr15:72501158-72501324	K562	blood:	n/a	n/a
43	POLR2A	chr15:72502433-72502783	HepG2	liver:	n/a	n/a
44	POLR2A	chr15:72501269-72501283	MCF-7	breast:	n/a	n/a
45	POLR2A	chr15:72501222-72501384	K562	blood:	n/a	n/a
46	POLR2A	chr15:72502754-72503242	Hela-S3	cervix:	n/a	n/a
47	POLR2A	chr15:72502761-72503295	MCF-7	breast:	n/a	n/a
48	POLR2A	chr15:72502786-72503385	HCT-116	colon:	n/a	n/a
49	POLR2A	chr15:72502599-72502698	ProgFib	skin:	n/a	n/a
50	POLR2A	chr15:72498152-72500954	GM12878	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:72497368..72499511-chr15:72501024..72504196,4	K562	blood:
2	chr15:72501144..72502803-chr15:72520575..72523218,2	K562	blood:
3	chr15:72497368..72499255-chr15:72501024..72504007,2	K562	blood:
4	chr15:72495667..72497285-chr15:72500382..72501960,2	K562	blood:
5	chr15:72494875..72497791-chr15:72499662..72501925,3	MCF-7	breast:

No data

Variant related genes	Relation type
PKM	TF binding region
ENSG00000067225	chromatin interactions

Extended variants
information (count: 109 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:109 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs561037110	chr15:72500906-72500907	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs531520945	chr15:72500911-72500912	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs576011296	chr15:72500918-72500919	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs543516408	chr15:72500919-72500920	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs373011230	chr15:72500928-72500929	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs369326241	chr15:72500929-72500930	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs564707213	chr15:72500951-72500952	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs147032160	chr15:72500965-72500966	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs372770775	chr15:72500976-72500977	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs376321558	chr15:72500998-72500999	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs145060432	chr15:72501001-72501002	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs369499375	chr15:72501059-72501060	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs11558376	chr15:72501072-72501073	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs548240358	chr15:72501092-72501093	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs149152236	chr15:72501094-72501095	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs11558352	chr15:72501095-72501096	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs149108298	chr15:72501098-72501099	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs8192411	chr15:72501102-72501103	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs550840336	chr15:72501113-72501114	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs200822996	chr15:72501122-72501123	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs11558356	chr15:72501132-72501133	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs143294717	chr15:72501133-72501134	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs552662710	chr15:72501143-72501144	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs182730190	chr15:72501157-72501158	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs17853396	chr15:72501187-72501188	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs61730842	chr15:72501191-72501192	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs141732747	chr15:72501193-72501194	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs11558354	chr15:72501200-72501201	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs200525707	chr15:72501227-72501228	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs187854804	chr15:72501247-72501248	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs375563823	chr15:72501259-72501260	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs138669807	chr15:72501268-72501269	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs367609111	chr15:72501273-72501274	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs536152794	chr15:72501281-72501282	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs140291849	chr15:72501291-72501292	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs539482793	chr15:72501304-72501305	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs576006965	chr15:72501408-72501409	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs543125745	chr15:72501410-72501411	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs8192410	chr15:72501471-72501472	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs74559581	chr15:72501489-72501490	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs558262990	chr15:72501534-72501535	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs576616435	chr15:72501568-72501569	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs540873052	chr15:72501577-72501578	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs192365204	chr15:72501592-72501593	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs184654982	chr15:72501758-72501759	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs57244245	chr15:72501764-72501765	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs113644928	chr15:72501775-72501776	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs34810448	chr15:72501781-72501782	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs59980137	chr15:72501782-72501783	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs529905144	chr15:72501786-72501787	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:78)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Wilms tumour	21544195	CNVD
Testicular germ cell tumor	18059402	CNVD
cataract	16735990	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Medulloblastoma	21979893	CNVD
spastic paraplegia with thinning of corpus callosum	19105190	CNVD
Schizophrenia	21324950	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Disease	21824424	CNVD
Melanoma	18172304	CNVD
Gastric cancer	17167181	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Colorectal cancer	16272173	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Multiple myeloma	17550852	CNVD
Intellectual disability	22102821	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	20724749	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Cancer	16751803	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Prostate cancer	16573809	CNVD
Autism	17322880	CNVD
Autism	20678247	CNVD
Retinoblastoma	21504564	CNVD
Matthew-Wood syndrome	21085971	CNVD
Myelofibrosis	22110671	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Urothelial cell carcinoma	18451213	CNVD
phobic disorder	16773131	CNVD
Autism	21480499	CNVD
Disorders of sex development	22290220	CNVD
Mental retardation	19951919	CNVD
Mental retardation	16773131	CNVD
T-cell lymphomas	19863542	CNVD
15q24 microdeletion syndrome	22180641	CNVD
15q24 microdeletion syndrome	19921647	CNVD
Disease	22216833	CNVD
Mental retardation	17360722	CNVD
15q24 microdeletion syndrome	22216833	CNVD
15q24 microdeletion syndrome	22283845	CNVD
Developmental delay	17932688	CNVD
craniofacial dysmorphism	17932688	CNVD
digital and genital abnormalities	17932688	CNVD
Mental retardation	17621639	CNVD
Autism	20808228	CNVD
Breast cancer	21364760	CNVD
Urothelial carcinoma	21177765	CNVD
Epilepsy	22083797	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:147 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:72490000-72501800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr15:72490000-72507600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr15:72490400-72504000	Genic enhancers	A549	lung
4	chr15:72490400-72512000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
5	chr15:72490600-72503400	Strong transcription	Primary B cells from cord blood	blood
6	chr15:72490600-72508200	Strong transcription	Primary T helper cells PMA-I stimulated	--
7	chr15:72490600-72512000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr15:72490600-72513000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr15:72490600-72513200	Strong transcription	Primary B cells from peripheral blood	blood
10	chr15:72490600-72513600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr15:72490600-72513800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr15:72490600-72515600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr15:72490600-72518000	Strong transcription	Dnd41	blood
14	chr15:72490800-72504400	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr15:72490800-72504400	Strong transcription	Colonic Mucosa	Colon
16	chr15:72490800-72511800	Strong transcription	Primary neutrophils fromperipheralblood	blood
17	chr15:72490800-72511800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr15:72490800-72511800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr15:72490800-72512200	Strong transcription	Primary T helper cells fromperipheralblood	blood
20	chr15:72490800-72513000	Strong transcription	HUES64 Cell Line	embryonic stem cell
21	chr15:72490800-72513000	Strong transcription	Sigmoid Colon	Sigmoid Colon
22	chr15:72490800-72514200	Strong transcription	Primary T cells from cord blood	blood
23	chr15:72490800-72514400	Strong transcription	HUES6 Cell Line	embryonic stem cell
24	chr15:72490800-72518400	Strong transcription	HUES48 Cell Line	embryonic stem cell
25	chr15:72491000-72502800	Strong transcription	Pancreas	Pancrea
26	chr15:72491000-72504800	Strong transcription	iPS-15b Cell Line	embryonic stem cell
27	chr15:72491000-72504800	Strong transcription	Aorta	Aorta
28	chr15:72491000-72511600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr15:72491000-72512200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr15:72491000-72512200	Strong transcription	Monocytes-CD14+_RO01746	blood
31	chr15:72491000-72512600	Strong transcription	Primary hematopoietic stem cells	blood
32	chr15:72491000-72512600	Strong transcription	Rectal Mucosa Donor 29	rectum
33	chr15:72491000-72513000	Strong transcription	H9 Cell Line	embryonic stem cell
34	chr15:72491000-72513400	Strong transcription	Fetal Lung	lung
35	chr15:72491000-72513600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
36	chr15:72491000-72513600	Strong transcription	Placenta Amnion	Placenta Amnion
37	chr15:72491000-72513800	Strong transcription	H1 Cell Line	embryonic stem cell
38	chr15:72491000-72513800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr15:72491000-72514600	Strong transcription	K562	blood
40	chr15:72491200-72512000	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr15:72491200-72512000	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
42	chr15:72491200-72512800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
43	chr15:72491200-72513000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr15:72491400-72501000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr15:72491400-72511600	Strong transcription	Ovary	ovary
46	chr15:72491400-72512400	Strong transcription	Primary monocytes fromperipheralblood	blood
47	chr15:72491600-72501400	Genic enhancers	HMEC	breast
48	chr15:72491600-72511200	Strong transcription	GM12878-XiMat	blood
49	chr15:72491600-72511800	Strong transcription	Primary T cells fromperipheralblood	blood
50	chr15:72491600-72513600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell

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