Variant report

Variant	nsv569599
Chromosome Location	chr15:58563209-58579956
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:165)
CpG islands
(count:0)
Chromatin interactive
region (count:20)
LncRNA
region (count:8)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:165 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr15:58571954-58572275	K562	blood:	n/a	n/a
2	ARID3A	chr15:58577390-58578554	HepG2	liver:	n/a	n/a
3	ARID3A	chr15:58574582-58574862	HepG2	liver:	n/a	n/a
4	ATF1	chr15:58572016-58572141	K562	blood:	n/a	n/a
5	BHLHE40	chr15:58577475-58577905	HepG2	liver:	n/a	n/a
6	BHLHE40	chr15:58574680-58574787	K562	blood:	n/a	n/a
7	CBX3	chr15:58563603-58563949	K562	blood:	n/a	n/a
8	CEBPB	chr15:58577473-58577801	HepG2	liver:	n/a	n/a
9	CEBPB	chr15:58571928-58572101	K562	blood:	n/a	n/a
10	CEBPB	chr15:58577402-58577865	HepG2	liver:	n/a	n/a
11	CEBPB	chr15:58578165-58578454	HepG2	liver:	n/a	n/a
12	CEBPB	chr15:58578157-58578420	HepG2	liver:	n/a	n/a
13	CEBPB	chr15:58574631-58574934	HepG2	liver:	n/a	n/a
14	CEBPB	chr15:58577460-58577773	HepG2	liver:	n/a	n/a
15	CEBPB	chr15:58574721-58574803	K562	blood:	n/a	n/a
16	CEBPB	chr15:58577421-58577879	HepG2	liver:	n/a	n/a
17	CEBPB	chr15:58578110-58578502	HepG2	liver:	n/a	n/a
18	CEBPB	chr15:58574714-58574861	HepG2	liver:	n/a	n/a
19	CEBPD	chr15:58577536-58577742	HepG2	liver:	n/a	n/a
20	CTCF	chr15:58574689-58574762	HepG2	liver:	n/a	n/a
21	CTCF	chr15:58571800-58571950	GM12869	blood:	n/a	n/a
22	CTCF	chr15:58564080-58564230	HMF	breast:	n/a	n/a
23	CTCF	chr15:58564160-58564310	GM12872	blood:	n/a	chr15:58564245-58564253
24	CTCF	chr15:58574689-58574787	K562	blood:	n/a	n/a
25	CTCF	chr15:58568212-58568279	Fibrobl	skin:	n/a	n/a
26	CTCF	chr15:58564220-58564370	GM12873	blood:	n/a	chr15:58564245-58564253
27	CTCF	chr15:58574601-58574781	K562	blood:	n/a	n/a
28	CUX1	chr15:58571983-58572174	K562	blood:	n/a	n/a
29	EP300	chr15:58578018-58578520	HepG2	liver:	n/a	chr15:58578297-58578307
30	EP300	chr15:58565913-58566057	GM12878	blood:	n/a	n/a
31	EP300	chr15:58574471-58574937	HepG2	liver:	n/a	n/a
32	EP300	chr15:58577271-58577975	HepG2	liver:	n/a	n/a
33	EP300	chr15:58578105-58578411	HepG2	liver:	n/a	chr15:58578297-58578307
34	EP300	chr15:58574474-58574945	HepG2	liver:	n/a	n/a
35	EP300	chr15:58571975-58572194	K562	blood:	n/a	n/a
36	EP300	chr15:58577440-58577815	HepG2	liver:	n/a	n/a
37	EP300	chr15:58577447-58577795	HepG2	liver:	n/a	n/a
38	EP300	chr15:58574682-58574876	HepG2	liver:	n/a	n/a
39	EP300	chr15:58578086-58578397	HepG2	liver:	n/a	chr15:58578297-58578307
40	FOS	chr15:58578845-58579101	MCF10A-Er-Src	breast:	n/a	n/a
41	FOS	chr15:58578901-58579148	MCF10A-Er-Src	breast:	n/a	n/a
42	FOS	chr15:58578840-58579150	MCF10A-Er-Src	breast:	n/a	n/a
43	FOXA1	chr15:58577375-58577906	HepG2	liver:	n/a	n/a
44	FOXA1	chr15:58577386-58577905	HepG2	liver:	n/a	n/a
45	FOXA1	chr15:58577368-58577915	HepG2	liver:	n/a	n/a
46	FOXA1	chr15:58578076-58578540	HepG2	liver:	n/a	n/a
47	FOXA1	chr15:58577980-58578497	HepG2	liver:	n/a	n/a
48	FOXA1	chr15:58578028-58578551	HepG2	liver:	n/a	n/a
49	FOXA1	chr15:58574569-58574937	HepG2	liver:	n/a	n/a
50	FOXA1	chr15:58577971-58578605	HepG2	liver:	n/a	n/a

No data

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:58570070..58572100-chr15:58573346..58576052,2	K562	blood:
2	chr15:58566466..58568855-chr15:58576243..58578947,2	K562	blood:
3	chr15:58560557..58563297-chr15:59039690..59042665,2	MCF-7	breast:
4	chr15:58565859..58568449-chr15:58570766..58572672,2	K562	blood:
5	chr15:58567233..58568968-chr15:58622813..58624600,2	K562	blood:
6	chr15:58572569..58575158-chr15:58577696..58579609,2	MCF-7	breast:
7	chr15:58566466..58569601-chr15:58576243..58578947,3	K562	blood:
8	chr15:58562484..58565368-chr15:58578132..58581112,2	K562	blood:
9	chr15:58566466..58568855-chr15:58576243..58578947,2	K562	blood:
10	chr15:58578016..58579856-chr15:58623161..58625225,2	MCF-7	breast:
11	chr15:58553979..58557970-chr15:58560575..58563562,3	K562	blood:
12	chr15:58555185..58557970-chr15:58559475..58563925,5	K562	blood:
13	chr15:58562484..58565368-chr15:58578132..58581112,2	K562	blood:
14	chr15:58571212..58573440-chr15:58578519..58580628,2	K562	blood:
15	chr15:58571087..58573082-chr15:58578472..58580667,2	K562	blood:
16	chr15:58559736..58562598-chr15:58575137..58576771,2	K562	blood:
17	chr15:58566466..58569601-chr15:58576243..58578947,3	K562	blood:
18	chr15:58572569..58575158-chr15:58577696..58579609,2	MCF-7	breast:
19	chr15:58578437..58580327-chr15:58877282..58879701,2	K562	blood:
20	chr15:58559095..58562120-chr15:58564838..58568362,3	K562	blood:

(count:8 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ADAM10-9	chr15:58571373-58571479	NONHSAT044089
2	lnc-ADAM10-2	chr15:58575124-58575190	XLOC_011486
3	lnc-ADAM10-9	chr15:58571373-58571426	NONHSAT044095
4	lnc-AQP9-4	chr15:58568015-58568082	ucscGeneNc_uc002ags_1
5	lnc-ADAM10-2	chr15:58576166-58576475	XLOC_011486
6	lnc-ADAM10-2	chr15:58576166-58576553	NONHSAT044109
7	lnc-ADAM10-2	chr15:58575094-58575190	NONHSAT044109
8	lnc-ADAM10-2	chr15:58572415-58572683	XLOC_011486

No data

Variant related genes	Relation type
ALDH1A2	TF binding region
ENSG00000128918	chromatin interactions
ENSG00000137845	chromatin interactions

Extended variants
information (count: 842 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:842 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs8033046	chr15:58563209-58563210	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs62001666	chr15:58563234-58563235	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs75008533	chr15:58563246-58563247	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs146193350	chr15:58563255-58563256	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs536179167	chr15:58563265-58563266	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs139074693	chr15:58563272-58563273	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs553614734	chr15:58563291-58563292	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs573568096	chr15:58563324-58563325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs555934466	chr15:58563335-58563336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs182131444	chr15:58563337-58563338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs185490883	chr15:58563343-58563344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs149450932	chr15:58563385-58563386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs190738588	chr15:58563386-58563387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs575537851	chr15:58563415-58563416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs113510479	chr15:58563426-58563427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs564358637	chr15:58563436-58563437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs533238620	chr15:58563460-58563461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs180767671	chr15:58563479-58563480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs148626670	chr15:58563488-58563489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs529276536	chr15:58563498-58563499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs142166667	chr15:58563563-58563564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs569125302	chr15:58563624-58563625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs147822860	chr15:58563638-58563639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs531434299	chr15:58563648-58563649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs77284895	chr15:58563688-58563689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs139807790	chr15:58563690-58563691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs545061250	chr15:58563695-58563696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs572815409	chr15:58563707-58563708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs573703585	chr15:58563717-58563718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs145287953	chr15:58563722-58563723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs28803812	chr15:58563728-58563729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs572324285	chr15:58563779-58563780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs147674593	chr15:58563848-58563849	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs560377599	chr15:58563859-58563860	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs372230193	chr15:58563865-58563866	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs185151595	chr15:58563887-58563888	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs189958095	chr15:58563888-58563889	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs564650569	chr15:58563890-58563891	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs578110386	chr15:58563905-58563906	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs181215502	chr15:58563958-58563959	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs560630854	chr15:58563967-58563968	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs541394659	chr15:58563997-58563998	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs529373339	chr15:58564013-58564014	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs549358473	chr15:58564042-58564043	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs562886395	chr15:58564048-58564049	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs531767774	chr15:58564051-58564052	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs551685219	chr15:58564094-58564095	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs55800519	chr15:58564121-58564122	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs185658716	chr15:58564142-58564143	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs547276218	chr15:58564156-58564157	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

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
Colorectal cancer	16774939	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
Acute monocytic leukemia	16498392	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
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:145 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:58554200-58574400	Weak transcription	Left Ventricle	heart
2	chr15:58562400-58564000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr15:58562400-58564000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr15:58562600-58563800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr15:58562600-58564000	Weak transcription	Thymus	Thymus
6	chr15:58562800-58563800	Weak transcription	Liver	Liver
7	chr15:58562800-58564000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr15:58562800-58564000	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr15:58562800-58565400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr15:58563600-58564000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr15:58563800-58564400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
12	chr15:58563800-58564400	ZNF genes & repeats	Liver	Liver
13	chr15:58564000-58564200	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
14	chr15:58564000-58564200	ZNF genes & repeats	Thymus	Thymus
15	chr15:58564000-58564400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr15:58564000-58564400	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr15:58564000-58564400	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr15:58564000-58564600	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr15:58564000-58564600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr15:58564000-58564600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr15:58564400-58567000	Weak transcription	Liver	Liver
22	chr15:58564400-58582000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr15:58564600-58565200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr15:58564600-58567200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr15:58564600-58571400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr15:58564800-58574400	Weak transcription	A549	lung
27	chr15:58565400-58565800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
28	chr15:58567000-58568200	Enhancers	Fetal Kidney	kidney
29	chr15:58567000-58568400	Enhancers	Liver	Liver
30	chr15:58567200-58567400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr15:58567400-58567800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr15:58567800-58568200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr15:58568200-58570600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr15:58568400-58568800	Weak transcription	Liver	Liver
35	chr15:58568800-58569600	Enhancers	Fetal Thymus	thymus
36	chr15:58568800-58572400	Enhancers	Liver	Liver
37	chr15:58569000-58569800	Enhancers	Primary hematopoietic stem cells short term culture	blood
38	chr15:58569200-58569400	Enhancers	iPS-18 Cell Line	embryonic stem cell
39	chr15:58569400-58569600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr15:58569400-58570000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr15:58569600-58570200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr15:58569600-58570600	Weak transcription	Fetal Thymus	thymus
43	chr15:58569800-58571400	Active TSS	Right Atrium	heart
44	chr15:58569800-58574200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
45	chr15:58570200-58572000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr15:58570600-58570800	Enhancers	ES-I3 Cell Line	embryonic stem cell
47	chr15:58570600-58570800	Enhancers	H9 Cell Line	embryonic stem cell
48	chr15:58570600-58571600	Enhancers	iPS-18 Cell Line	embryonic stem cell
49	chr15:58570600-58572000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr15:58570600-58572200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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