Variant report

Variant	nsv974584
Chromosome Location	chr15:59499025-59500316
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:18)
CpG islands
(count:306)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:18 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BHLHE40	chr15:59498867-59499082	K562	blood:	n/a	chr15:59498989-59499005 chr15:59499024-59499040
2	E2F6	chr15:59498918-59499121	K562	blood:	n/a	chr15:59499016-59499025
3	MAX	chr15:59498820-59499150	K562	blood:	n/a	n/a
4	MAX	chr15:59498830-59499038	K562	blood:	n/a	n/a
5	MAX	chr15:59498874-59499074	K562	blood:	n/a	n/a
6	POLR2A	chr15:59499111-59499314	GM12878	blood:	n/a	n/a
7	POLR2A	chr15:59500175-59500235	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr15:59499184-59499292	A549	lung:	n/a	n/a
9	POLR2A	chr15:59498908-59499372	A549	lung:	n/a	n/a
10	POLR2A	chr15:59500249-59500257	HUVEC	blood vessel:	n/a	n/a
11	POLR2A	chr15:59499213-59499435	HUVEC	blood vessel:	n/a	n/a
12	POLR2A	chr15:59499165-59499396	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chr15:59500090-59500111	HUVEC	blood vessel:	n/a	n/a
14	POLR2A	chr15:59498954-59499449	Hela-S3	cervix:	n/a	n/a
15	POLR2A	chr15:59499807-59499911	A549	lung:	n/a	n/a
16	POLR2A	chr15:59498896-59499300	GM12891	blood:	n/a	n/a
17	POLR2A	chr15:59498864-59499398	GM12892	blood:	n/a	n/a
18	USF2	chr15:59499380-59499468	Hela-S3	cervix:	n/a	n/a

(count:306 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:59499164-59499214	A549	lung:	n/a
2	chr15:59499164-59499214	A549	lung:	n/a
3	chr15:59499084-59499134	PrEC	prostate:	n/a
4	chr15:59499030-59499080	AoSMC	blood vessel:	n/a
5	chr15:59499291-59499341	MCF-7	breast:	n/a
6	chr15:59499084-59499134	AG09319	gingival:	n/a
7	chr15:59499039-59499089	CMK	blood:	n/a
8	chr15:59499039-59499089	Hepatocyte	liver:	n/a
9	chr15:59499039-59499089	T-47D	breast:	n/a
10	chr15:59499039-59499089	GM06990	blood:	n/a
11	chr15:59499039-59499089	MCF10A-Er-Src	breast:	n/a
12	chr15:59499084-59499134	Hela-S3	cervix:	n/a
13	chr15:59499164-59499214	K562	blood:	n/a
14	chr15:59499030-59499080	MCF10A-Er-Src	breast:	n/a
15	chr15:59499084-59499134	HRE	kidney:	n/a
16	chr15:59499039-59499089	HCPEpiC	choroid plexus:	n/a
17	chr15:59499030-59499080	A549	lung:	n/a
18	chr15:59499291-59499341	U87	brain:	n/a
19	chr15:59499039-59499089	AG04449	skin:	fetal
20	chr15:59499039-59499089	GM12891	blood:	n/a
21	chr15:59499039-59499089	HCM	heart:	n/a
22	chr15:59499084-59499134	NHDF-neo	bronchial:	n/a
23	chr15:59499164-59499214	AG09319	gingival:	n/a
24	chr15:59499291-59499341	SK-N-SH_RA	brain:	n/a
25	chr15:59499030-59499080	BJ	skin:	n/a
26	chr15:59499164-59499214	HRCEpiC	kidney:	n/a
27	chr15:59499084-59499134	RPTEC	kidney:	n/a
28	chr15:59499030-59499080	NHDF-neo	bronchial:	n/a
29	chr15:59499039-59499089	LNCaP	prostate:	n/a
30	chr15:59499084-59499134	HUVEC	blood vessel:	n/a
31	chr15:59499291-59499341	NHBE	bronchial:	n/a
32	chr15:59499030-59499080	SKMC	muscle:	n/a
33	chr15:59499291-59499341	NHDF-neo	bronchial:	n/a
34	chr15:59499084-59499134	NHBE	bronchial:	n/a
35	chr15:59499039-59499089	Caco-2	colon:	n/a
36	chr15:59499030-59499080	SK-N-MC	brain:	n/a
37	chr15:59499164-59499214	IMR90	lung:	fetal
38	chr15:59499164-59499214	NHBE	bronchial:	n/a
39	chr15:59499084-59499134	HCF	heart:	n/a
40	chr15:59499291-59499341	HRPEpiC	eye:	n/a
41	chr15:59499164-59499214	U87	brain:	n/a
42	chr15:59499291-59499341	NB4	blood:	n/a
43	chr15:59499039-59499089	SK-N-SH_RA	brain:	n/a
44	chr15:59499164-59499214	SK-N-SH	brain:	n/a
45	chr15:59499164-59499214	AG04450	lung:	fetal
46	chr15:59499030-59499080	HCF	heart:	n/a
47	chr15:59499084-59499134	MCF-7	breast:	n/a
48	chr15:59499030-59499080	HNPCEpiC	eye:	n/a
49	chr15:59499164-59499214	HMEC	breast:	n/a
50	chr15:59499291-59499341	HEEpiC	esophagus:	n/a

No data

Variant related genes	Relation type
MYO1E	TF binding region
LDHAL6B	TF binding region
MYO1E	CpG island
LDHAL6B	CpG island

Extended variants
information (count: 111 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:111 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs79635897	chr15:59499025-59499026	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	2 gene(s)	Overlapped CNVs	n/a
2	rs567853922	chr15:59499039-59499040	Weak transcription Strong transcription ZNF genes & repeats	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
3	rs367766957	chr15:59499042-59499043	Weak transcription Strong transcription ZNF genes & repeats	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
4	rs539162667	chr15:59499084-59499085	Weak transcription Strong transcription ZNF genes & repeats	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
5	rs374579237	chr15:59499088-59499089	Weak transcription Strong transcription ZNF genes & repeats	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
6	rs367595111	chr15:59499089-59499090	Weak transcription Strong transcription ZNF genes & repeats	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
7	rs76593785	chr15:59499120-59499121	Weak transcription Strong transcription ZNF genes & repeats	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
8	rs373872321	chr15:59499129-59499130	Weak transcription Strong transcription ZNF genes & repeats	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
9	rs190280256	chr15:59499131-59499132	Weak transcription Strong transcription ZNF genes & repeats	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
10	rs370874779	chr15:59499132-59499133	Weak transcription Strong transcription ZNF genes & repeats	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
11	rs200239796	chr15:59499155-59499156	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs374748846	chr15:59499175-59499176	Weak transcription Strong transcription ZNF genes & repeats	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
13	rs3809530	chr15:59499179-59499180	Weak transcription Strong transcription ZNF genes & repeats	TF binding region CpG island	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs3809529	chr15:59499228-59499229	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs368244889	chr15:59499230-59499231	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs555090169	chr15:59499231-59499232	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs200574046	chr15:59499240-59499241	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs12437573	chr15:59499244-59499245	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs372038832	chr15:59499250-59499251	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs148651064	chr15:59499255-59499256	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs3809528	chr15:59499274-59499275	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs199634698	chr15:59499278-59499279	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs376676204	chr15:59499296-59499297	Weak transcription Strong transcription ZNF genes & repeats	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
24	rs143718171	chr15:59499305-59499306	Weak transcription Strong transcription ZNF genes & repeats	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
25	rs369242517	chr15:59499317-59499318	Weak transcription Strong transcription ZNF genes & repeats	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
26	rs117906902	chr15:59499334-59499335	Weak transcription Strong transcription ZNF genes & repeats	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
27	rs549398247	chr15:59499363-59499364	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs200393440	chr15:59499369-59499370	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs146343279	chr15:59499375-59499376	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs375316658	chr15:59499376-59499377	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs561321863	chr15:59499377-59499378	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs141146628	chr15:59499383-59499384	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs373150633	chr15:59499386-59499387	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs139393217	chr15:59499387-59499388	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs143314524	chr15:59499391-59499392	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs147524188	chr15:59499392-59499393	Weak transcription Strong transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs138279075	chr15:59499402-59499403	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs188735976	chr15:59499432-59499433	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs201500040	chr15:59499448-59499449	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs369967492	chr15:59499471-59499472	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs61741295	chr15:59499472-59499473	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs201609693	chr15:59499486-59499487	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs144508112	chr15:59499492-59499493	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs200668398	chr15:59499496-59499497	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs536602124	chr15:59499502-59499503	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs148423958	chr15:59499575-59499576	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs374593895	chr15:59499603-59499604	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs578172582	chr15:59499610-59499611	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs554952558	chr15:59499614-59499615	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs144009943	chr15:59499620-59499621	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Autism	22495311	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
Prostate cancer	16573809	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	17053054	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Cancer	21129771	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Abnormal phenotypes	18644119	CNVD
Cancer	16751803	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital diaphragmatic hernia	21341218	CNVD
Holoprosencephaly	21359414	CNVD
Myelofibrosis	22110671	CNVD
Adenocarcinoma	19607727	CNVD
Squamous cell cancer	19607727	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Mental retardation	17124404	CNVD
Gastrointestinal stromal cancer	20877625	CNVD

Chromatin state (count:130 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:59467800-59523200	Weak transcription	Fetal Brain Female	brain
2	chr15:59468200-59528600	Weak transcription	Stomach Mucosa	stomach
3	chr15:59468600-59521400	Strong transcription	Rectal Mucosa Donor 29	rectum
4	chr15:59475200-59503200	Strong transcription	Liver	Liver
5	chr15:59475800-59517800	Strong transcription	HUES48 Cell Line	embryonic stem cell
6	chr15:59480200-59499200	Weak transcription	Fetal Lung	lung
7	chr15:59480200-59507200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr15:59480600-59507600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr15:59482800-59499400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr15:59483200-59514000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr15:59484200-59499400	Weak transcription	Fetal Kidney	kidney
12	chr15:59485400-59515400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr15:59485600-59505800	Weak transcription	Brain Germinal Matrix	brain
14	chr15:59485600-59521200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr15:59487200-59502600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr15:59487600-59499400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr15:59487800-59524400	Weak transcription	Small Intestine	intestine
18	chr15:59489600-59503800	Strong transcription	HUES64 Cell Line	embryonic stem cell
19	chr15:59489800-59501200	Strong transcription	H1 Cell Line	embryonic stem cell
20	chr15:59489800-59512600	Strong transcription	HUES6 Cell Line	embryonic stem cell
21	chr15:59489800-59515600	Weak transcription	Right Atrium	heart
22	chr15:59490000-59501200	Strong transcription	Fetal Muscle Leg	muscle
23	chr15:59490000-59501200	Strong transcription	Fetal Stomach	stomach
24	chr15:59490200-59502600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
25	chr15:59490200-59510800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr15:59490600-59501200	Strong transcription	Ovary	ovary
27	chr15:59491400-59501200	Strong transcription	Primary monocytes fromperipheralblood	blood
28	chr15:59491400-59501200	Strong transcription	Sigmoid Colon	Sigmoid Colon
29	chr15:59491600-59503000	Strong transcription	Duodenum Mucosa	Duodenum
30	chr15:59492000-59501200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr15:59492000-59503600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
32	chr15:59492000-59521600	Strong transcription	Rectal Mucosa Donor 31	rectum
33	chr15:59492400-59501200	Strong transcription	Gastric	stomach
34	chr15:59492400-59502400	Strong transcription	Fetal Muscle Trunk	muscle
35	chr15:59492800-59499400	Weak transcription	Fetal Heart	heart
36	chr15:59492800-59501200	Strong transcription	Left Ventricle	heart
37	chr15:59493000-59499800	Strong transcription	HSMMtube	muscle
38	chr15:59493000-59501200	Strong transcription	Skeletal Muscle Female	skeletal muscle
39	chr15:59493000-59501800	Strong transcription	Cortex derived primary cultured neurospheres	brain
40	chr15:59493000-59503000	Strong transcription	Adipose Nuclei	Adipose
41	chr15:59493000-59503400	Strong transcription	Muscle Satellite Cultured Cells	--
42	chr15:59493000-59506200	Strong transcription	Fetal Intestine Small	intestine
43	chr15:59493000-59512000	Strong transcription	HSMM	muscle
44	chr15:59493000-59513800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr15:59493200-59500600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr15:59493200-59502400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr15:59493200-59502800	Strong transcription	HUVEC	blood vessel
48	chr15:59493200-59513600	Strong transcription	Osteobl	bone
49	chr15:59493200-59513800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr15:59493200-59514400	Strong transcription	HMEC	breast

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