Variant report

Variant	nsv1043560
Chromosome Location	chr15:58851369-58863526
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:58860510..58864232-chr15:58873033..58877399,5	K562	blood:
2	chr15:58846252..58850551-chr15:58852253..58854849,4	MCF-7	breast:
3	chr15:58813787..58816646-chr15:58861427..58864530,3	K562	blood:
4	chr15:58850686..58852786-chr15:58855873..58857553,2	K562	blood:
5	chr15:58844000..58845908-chr15:58853129..58855286,2	K562	blood:
6	chr15:58858333..58860750-chr15:58870905..58872413,2	K562	blood:
7	chr15:58860633..58862696-chr15:58874289..58877097,2	MCF-7	breast:
8	chr15:58850686..58852786-chr15:58855873..58857553,2	K562	blood:
9	chr15:58852972..58855278-chr15:58856780..58858614,2	K562	blood:
10	chr15:58855055..58857360-chr15:58858745..58860281,2	K562	blood:
11	chr15:58857358..58859219-chr15:58863584..58865207,2	K562	blood:
12	chr15:58852972..58855278-chr15:58856780..58858614,2	K562	blood:
13	chr15:58848705..58850783-chr15:58854087..58856299,2	MCF-7	breast:
14	chr15:58855055..58857360-chr15:58858745..58860281,2	K562	blood:

No data

Extended variants
information (count: 629 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:629 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2414598	chr15:58851369-58851370	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs78345131	chr15:58851495-58851496	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs557171263	chr15:58851511-58851512	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs140789096	chr15:58851521-58851522	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs577059098	chr15:58851541-58851542	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs543605050	chr15:58851553-58851554	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs140120301	chr15:58851582-58851583	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs78884173	chr15:58851604-58851605	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs2414599	chr15:58851619-58851620	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs77144723	chr15:58851652-58851653	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs530312019	chr15:58851657-58851658	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs145573701	chr15:58851666-58851667	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs2414600	chr15:58851677-58851678	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs113732881	chr15:58851682-58851683	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs2414601	chr15:58851684-58851685	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs144323552	chr15:58851705-58851706	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs369824062	chr15:58851710-58851711	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs565944242	chr15:58851744-58851745	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs564856906	chr15:58851758-58851759	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs148799507	chr15:58851776-58851777	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs372135812	chr15:58851813-58851814	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs527244664	chr15:58851834-58851835	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs548520466	chr15:58851840-58851841	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs373261346	chr15:58851901-58851902	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs376777598	chr15:58851902-58851903	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs11421820	chr15:58851903-58851904	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs112520988	chr15:58851914-58851915	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs568391074	chr15:58851915-58851916	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs12911183	chr15:58851916-58851917	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs375205315	chr15:58851917-58851918	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs537340244	chr15:58851947-58851948	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs75698200	chr15:58852048-58852049	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs375459122	chr15:58852063-58852064	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs547389642	chr15:58852099-58852100	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs537530350	chr15:58852120-58852121	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs190644212	chr15:58852179-58852180	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs539161054	chr15:58852181-58852182	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs4444272	chr15:58852221-58852222	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs4528512	chr15:58852226-58852227	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs541841396	chr15:58852243-58852244	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs554923903	chr15:58852251-58852252	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs574843774	chr15:58852306-58852307	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs183248238	chr15:58852307-58852308	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs563499618	chr15:58852326-58852327	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs530954075	chr15:58852327-58852328	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs549702834	chr15:58852351-58852352	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs187151902	chr15:58852380-58852381	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs11858020	chr15:58852422-58852423	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs7179747	chr15:58852463-58852464	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs7179940	chr15:58852488-58852489	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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:138 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:58844600-58860400	Weak transcription	Primary T cells from cord blood	blood
2	chr15:58845400-58857200	Weak transcription	Adipose Nuclei	Adipose
3	chr15:58847200-58860400	Weak transcription	Thymus	Thymus
4	chr15:58847400-58856000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr15:58848200-58851600	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr15:58848200-58852600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr15:58848200-58852600	Weak transcription	Stomach Mucosa	stomach
8	chr15:58848200-58857400	Weak transcription	Colonic Mucosa	Colon
9	chr15:58848200-58858400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr15:58848600-58852000	Weak transcription	Duodenum Mucosa	Duodenum
11	chr15:58848600-58852000	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr15:58849000-58851600	Weak transcription	K562	blood
13	chr15:58849200-58853400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr15:58850800-58851800	Enhancers	Liver	Liver
15	chr15:58850800-58852200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr15:58851600-58852800	Enhancers	K562	blood
17	chr15:58851600-58853600	Enhancers	Hela-S3	cervix
18	chr15:58851600-58854000	Enhancers	Rectal Mucosa Donor 31	rectum
19	chr15:58851800-58854400	Weak transcription	Liver	Liver
20	chr15:58852000-58852400	Enhancers	Duodenum Mucosa	Duodenum
21	chr15:58852000-58852800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr15:58852000-58853200	Enhancers	Rectal Mucosa Donor 29	rectum
23	chr15:58852200-58853200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr15:58852400-58860400	Weak transcription	Duodenum Mucosa	Duodenum
25	chr15:58852600-58852800	Enhancers	Stomach Mucosa	stomach
26	chr15:58852800-58853400	Weak transcription	Stomach Mucosa	stomach
27	chr15:58853000-58856600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr15:58853200-58853600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr15:58853200-58853800	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr15:58853200-58854200	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chr15:58853200-58854600	Enhancers	HepG2	liver
32	chr15:58853200-58865000	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr15:58853400-58853600	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr15:58853400-58853600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr15:58853400-58853600	Enhancers	Stomach Mucosa	stomach
36	chr15:58853600-58854000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr15:58853600-58854200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr15:58853600-58854200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr15:58853600-58860200	Weak transcription	Stomach Mucosa	stomach
40	chr15:58854000-58854200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr15:58854000-58854400	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr15:58854200-58854400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr15:58854200-58854400	Enhancers	iPS-18 Cell Line	embryonic stem cell
44	chr15:58854200-58860400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr15:58854200-58860400	Weak transcription	Pancreas	Pancrea
46	chr15:58854400-58854600	Enhancers	Rectal Mucosa Donor 31	rectum
47	chr15:58854400-58854800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr15:58854400-58855000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
49	chr15:58854400-58855800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr15:58854400-58859000	Strong transcription	Liver	Liver

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