Variant report

Variant	nsv522976
Chromosome Location	chr7:15108184-15318473
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:13)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:15262308..15264487-chr7:15270699..15272942,2	K562	blood:
2	chr7:15148394..15150106-chr7:15160727..15163235,2	K562	blood:
3	chr7:15253710..15255246-chr7:15258463..15260182,2	K562	blood:
4	chr7:15213565..15216408-chr7:15216427..15218516,2	K562	blood:
5	chr7:15181881..15184605-chr7:15186174..15189124,2	K562	blood:
6	chr7:15238978..15239740-chr7:16110589..16111290,3	K562	blood:
7	chr7:15253710..15255246-chr7:15258463..15260182,2	K562	blood:
8	chr7:15181881..15184605-chr7:15186174..15189124,2	K562	blood:
9	chr7:15262308..15264487-chr7:15270699..15272942,2	K562	blood:
10	chr7:15213565..15216408-chr7:15216427..15218516,2	K562	blood:
11	chr7:15226823..15229745-chr7:16458349..16461149,2	MCF-7	breast:
12	chr7:15148394..15150106-chr7:15160727..15163235,2	K562	blood:
13	chr6:10529800..10530510-chr7:15146578..15147089,2	MCF-7	breast:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC006035.2-8	chr7:15193488-15193542	NONHSAT119275
2	lnc-AC006035.2-4	chr7:15107930-15108276	XLOC_005990
3	lnc-AC006035.2-8	chr7:15191535-15191712	NONHSAT119275
4	lnc-AC006035.2-8	chr7:15192805-15192944	NONHSAT119275

No data

Variant related genes	Relation type
ENSG00000214960	chromatin interactions
ENSG00000111846	chromatin interactions

Extended variants
information (count: 5942 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:5942 , 50 per page) page: 1 2 3 4 5 6 7 ... 119

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12386767	chr7:15108184-15108185	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs180861480	chr7:15108203-15108204	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs560264445	chr7:15108223-15108224	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs576879054	chr7:15112805-15112806	Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs186322386	chr7:15112829-15112830	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs190975949	chr7:15112833-15112834	Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs184012851	chr7:15112835-15112836	Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs187857717	chr7:15112896-15112897	Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs56144427	chr7:15112917-15112918	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs561494788	chr7:15112961-15112962	Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs530151664	chr7:15112971-15112972	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs190948636	chr7:15113007-15113008	Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs566607776	chr7:15113027-15113028	Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs532403027	chr7:15113038-15113039	Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs141860527	chr7:15113044-15113045	Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs552530654	chr7:15113051-15113052	Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs28650003	chr7:15113078-15113079	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs34414651	chr7:15113085-15113086	Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs183116473	chr7:15113088-15113089	Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs73681325	chr7:15113094-15113095	Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs546784939	chr7:15113107-15113108	Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs75721854	chr7:15113122-15113123	Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs560580414	chr7:15113131-15113132	Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs141042827	chr7:15113151-15113152	Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs533895442	chr7:15113177-15113178	Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs553944364	chr7:15113228-15113229	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs144892046	chr7:15113229-15113230	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs545528866	chr7:15113233-15113234	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs150933629	chr7:15113245-15113246	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs575859301	chr7:15113282-15113283	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs116079644	chr7:15113293-15113294	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs114679197	chr7:15113332-15113333	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs111874110	chr7:15113337-15113338	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs530261152	chr7:15113340-15113341	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs540409123	chr7:15113353-15113354	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs560252058	chr7:15113357-15113358	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs549496578	chr7:15113361-15113362	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs552289854	chr7:15113374-15113375	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs368224972	chr7:15113375-15113376	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs115609582	chr7:15113384-15113385	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs10479942	chr7:15113387-15113388	Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs187036327	chr7:15113391-15113392	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs191983476	chr7:15113429-15113430	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs373894923	chr7:15113440-15113441	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs376163093	chr7:15113447-15113448	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs367759709	chr7:15113456-15113457	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs75698514	chr7:15113469-15113470	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs184273312	chr7:15113481-15113482	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs139437099	chr7:15113489-15113490	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs543357442	chr7:15113499-15113500	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

Disease	PMID	Source
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Ovarian cancer	22174824	CNVD
Urothelial carcinoma	18382360	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Autism	22495311	CNVD
Prostate cancer	16573809	CNVD
Acute myeloid leukemia	21251322	CNVD
Melanoma	17363583	CNVD
Kartagener syndrome	16639409	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	19242612	CNVD
Autism	18414403	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21858162	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Myelofibrosis	22110671	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Glioblastoma multiforme	18628472	CNVD
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Heart disease	21282601	CNVD
Rubinstein-Taybi syndrome	22470819	CNVD
Alzheimer''s disease	22166940	CNVD
Abnormal phenotypes	18644119	CNVD
Non-syndromic sensorineural hearing loss	22570644	CNVD
Colorectal cancer	21645411	CNVD
Breast cancer	22522925	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:315 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:15112800-15113400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr7:15113200-15113800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr7:15120400-15121000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr7:15121000-15122200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr7:15122400-15122600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr7:15124000-15124200	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr7:15124400-15125400	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr7:15124600-15125000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr7:15124600-15125400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr7:15124600-15127400	Enhancers	Brain Germinal Matrix	brain
11	chr7:15124600-15127800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr7:15124600-15127800	Enhancers	NHDF-Ad	bronchial
13	chr7:15125200-15125600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr7:15125400-15125800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr7:15125400-15126600	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr7:15125600-15126000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr7:15125800-15127800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr7:15126000-15126200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr7:15126200-15127200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr7:15126200-15127600	Enhancers	HUVEC	blood vessel
21	chr7:15126600-15127000	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr7:15127000-15127400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr7:15127000-15127800	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr7:15127200-15127600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr7:15136600-15136800	Active TSS	HSMM	muscle
26	chr7:15136800-15137000	Enhancers	Pancreatic Islets	Pancreatic Islet
27	chr7:15136800-15137000	Flanking Active TSS	HSMM	muscle
28	chr7:15137000-15144800	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr7:15141600-15141800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr7:15141800-15142800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr7:15142800-15143000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr7:15143000-15143800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr7:15143800-15144200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr7:15143800-15146400	Enhancers	Fetal Lung	lung
35	chr7:15144000-15144800	Enhancers	Colon Smooth Muscle	Colon
36	chr7:15144400-15144800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr7:15144800-15145400	Enhancers	Pancreatic Islets	Pancreatic Islet
38	chr7:15159200-15160000	Enhancers	Placenta Amnion	Placenta Amnion
39	chr7:15160000-15164000	Weak transcription	Placenta Amnion	Placenta Amnion
40	chr7:15162400-15163800	Enhancers	Muscle Satellite Cultured Cells	--
41	chr7:15162800-15163800	Enhancers	HUVEC	blood vessel
42	chr7:15163000-15163400	Enhancers	Fetal Heart	heart
43	chr7:15163400-15169400	Weak transcription	Fetal Heart	heart
44	chr7:15163600-15164000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr7:15163800-15164000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr7:15163800-15164800	Weak transcription	HUVEC	blood vessel
47	chr7:15164000-15164400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr7:15164000-15164400	Enhancers	Placenta Amnion	Placenta Amnion
49	chr7:15164000-15166000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr7:15164000-15167800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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