Variant report

Variant	esv3323697
Chromosome Location	chr15:73017124-73019672
allele	n/a
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	ARID3A	chr15:73019503-73019869	HepG2	liver:	n/a	n/a
2	CTCF	chr15:73017567-73017665	Lung_OC	lung:	n/a	n/a
3	EP300	chr15:73019630-73019908	HepG2	liver:	n/a	n/a
4	FOXA1	chr15:73019500-73019912	HepG2	liver:	n/a	n/a
5	FOXA1	chr15:73019466-73019870	HepG2	liver:	n/a	n/a
6	FOXA1	chr15:73019518-73019920	HepG2	liver:	n/a	n/a
7	FOXA2	chr15:73019500-73019861	HepG2	liver:	n/a	n/a
8	TBP	chr15:73019666-73019932	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:73018422..73020271-chr15:73025051..73026725,2	MCF-7	breast:
2	chr15:73014099..73017746-chr15:73074579..73076877,3	MCF-7	breast:

Variant related genes	Relation type
BBS4	TF binding region
ENSG00000260898	chromatin interactions
ENSG00000159322	chromatin interactions

Extended variants
information (count: 94 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:94 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs546842000	chr15:73017127-73017128	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs143891324	chr15:73017129-73017130	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs76102875	chr15:73017200-73017201	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs576137338	chr15:73017271-73017272	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs547295907	chr15:73017319-73017320	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs187761424	chr15:73017323-73017324	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs200699913	chr15:73017380-73017381	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs62017586	chr15:73017396-73017397	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs201886458	chr15:73017397-73017398	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs369692212	chr15:73017398-73017399	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs1298946	chr15:73017400-73017401	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs58394351	chr15:73017415-73017416	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs71137311	chr15:73017425-73017426	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs12438576	chr15:73017456-73017457	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs536051545	chr15:73017477-73017478	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs560021366	chr15:73017495-73017496	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs141367780	chr15:73017506-73017507	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs145120985	chr15:73017526-73017527	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs143649702	chr15:73017542-73017543	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs537278982	chr15:73017571-73017572	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs369076122	chr15:73017572-73017573	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs531435201	chr15:73017585-73017586	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs549945279	chr15:73017647-73017648	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs571249989	chr15:73017648-73017649	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs148957734	chr15:73017650-73017651	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs547348864	chr15:73017750-73017751	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs560684180	chr15:73017851-73017852	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs372679372	chr15:73017881-73017882	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs201495007	chr15:73017941-73017942	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs536021382	chr15:73017999-73018000	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs554752822	chr15:73018003-73018004	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs575880879	chr15:73018005-73018006	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs372718810	chr15:73018025-73018026	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs537138907	chr15:73018026-73018027	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs376392729	chr15:73018073-73018074	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs377550904	chr15:73018106-73018107	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs191347929	chr15:73018141-73018142	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs184300790	chr15:73018144-73018145	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs113643078	chr15:73018147-73018148	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs188650929	chr15:73018149-73018150	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs181760842	chr15:73018153-73018154	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs185109298	chr15:73018181-73018182	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs573547555	chr15:73018204-73018205	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs28634042	chr15:73018216-73018217	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs190438583	chr15:73018263-73018264	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs375052170	chr15:73018272-73018273	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs199893085	chr15:73018273-73018274	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs376789567	chr15:73018279-73018280	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs79950068	chr15:73018295-73018296	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs558659647	chr15:73018410-73018411	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

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
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
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
Pancreatic cancer	17952125	CNVD

Chromatin state (count:160 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:72979200-73023600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr15:72979200-73023600	Weak transcription	Lung	lung
3	chr15:72979400-73027200	Weak transcription	Aorta	Aorta
4	chr15:72979600-73023200	Weak transcription	Fetal Kidney	kidney
5	chr15:72979600-73026800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr15:72979800-73027400	Weak transcription	Hela-S3	cervix
7	chr15:72981000-73018600	Weak transcription	Pancreas	Pancrea
8	chr15:72985200-73021000	Weak transcription	Fetal Intestine Small	intestine
9	chr15:72993000-73028800	Weak transcription	NHEK	skin
10	chr15:72999000-73020400	Weak transcription	NH-A	brain
11	chr15:72999000-73021800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr15:72999000-73044000	Weak transcription	Small Intestine	intestine
13	chr15:72999600-73027600	Weak transcription	NHLF	lung
14	chr15:73001200-73027600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr15:73001400-73020400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr15:73001400-73027400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr15:73001400-73027400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr15:73001400-73027600	Weak transcription	Right Ventricle	heart
19	chr15:73001600-73018600	Weak transcription	HepG2	liver
20	chr15:73001800-73027200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr15:73001800-73027400	Weak transcription	K562	blood
22	chr15:73001800-73033200	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr15:73002000-73054600	Weak transcription	Fetal Brain Male	brain
24	chr15:73002200-73023000	Weak transcription	Fetal Thymus	thymus
25	chr15:73002200-73026000	Weak transcription	Fetal Heart	heart
26	chr15:73002200-73028800	Weak transcription	Primary hematopoietic stem cells	blood
27	chr15:73002400-73022800	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr15:73002400-73028800	Weak transcription	Psoas Muscle	Psoas
29	chr15:73003000-73018600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr15:73003000-73027400	Weak transcription	Monocytes-CD14+_RO01746	blood
31	chr15:73003000-73028800	Weak transcription	Dnd41	blood
32	chr15:73003000-73031400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
33	chr15:73003200-73027800	Weak transcription	Primary monocytes fromperipheralblood	blood
34	chr15:73003200-73029000	Weak transcription	Esophagus	oesophagus
35	chr15:73003400-73023000	Weak transcription	Colonic Mucosa	Colon
36	chr15:73003400-73029000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
37	chr15:73003400-73044000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr15:73004000-73027400	Weak transcription	Gastric	stomach
39	chr15:73004200-73027200	Weak transcription	Spleen	Spleen
40	chr15:73004400-73028000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr15:73004600-73027800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr15:73004800-73022000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr15:73004800-73026200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
44	chr15:73005000-73027600	Weak transcription	NHDF-Ad	bronchial
45	chr15:73005000-73028600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
46	chr15:73005000-73031800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
47	chr15:73005200-73019400	Weak transcription	Brain Substantia Nigra	brain
48	chr15:73005800-73027400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr15:73006200-73027200	Weak transcription	Brain Germinal Matrix	brain
50	chr15:73006200-73027200	Weak transcription	Colon Smooth Muscle	Colon

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