Variant report

Variant	nsv433033
Chromosome Location	chr7:15172260-15226660
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:4)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr7:15213565..15216408-chr7:15216427..15218516,2	K562	blood:
2	chr7:15213565..15216408-chr7:15216427..15218516,2	K562	blood:
3	chr7:15181881..15184605-chr7:15186174..15189124,2	K562	blood:
4	chr7:15181881..15184605-chr7:15186174..15189124,2	K562	blood:

(count:3 , 50 per page) page: 1

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

No data

Extended variants
information (count: 1503 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:1503 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs764704	chr7:15172274-15172275	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs184758980	chr7:15172301-15172302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs372000075	chr7:15172317-15172318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs34390625	chr7:15172329-15172330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs540049479	chr7:15172335-15172336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs189471393	chr7:15172343-15172344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs542996427	chr7:15172394-15172395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs75472165	chr7:15172403-15172404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs551968777	chr7:15172411-15172412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs764703	chr7:15172412-15172413	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs531226468	chr7:15172447-15172448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs548133940	chr7:15172462-15172463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs764702	chr7:15172463-15172464	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs74685894	chr7:15172492-15172493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs547260946	chr7:15172622-15172623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs76146286	chr7:15172630-15172631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs567062655	chr7:15172754-15172755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs149008982	chr7:15172809-15172810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs374972230	chr7:15172813-15172814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs369991703	chr7:15172819-15172820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs545450856	chr7:15172833-15172834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs575665127	chr7:15172836-15172837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs181527510	chr7:15172909-15172910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs142949372	chr7:15172922-15172923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs140426039	chr7:15172970-15172971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs186049139	chr7:15173018-15173019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs2358162	chr7:15173051-15173052	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs552654605	chr7:15173075-15173076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs189093478	chr7:15173111-15173112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs71549918	chr7:15173123-15173124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs57949413	chr7:15173124-15173125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs386409575	chr7:15173125-15173126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs77881351	chr7:15173126-15173127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs397792597	chr7:15173127-15173128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs553583249	chr7:15173139-15173140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs576604633	chr7:15173140-15173141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs545950211	chr7:15173166-15173167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs55878243	chr7:15173182-15173183	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs10243144	chr7:15173200-15173201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs372819918	chr7:15173234-15173235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs368752293	chr7:15173237-15173238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs544693738	chr7:15173238-15173239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs140133727	chr7:15173254-15173255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs561663272	chr7:15173261-15173262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs146926803	chr7:15173262-15173263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs547299513	chr7:15173283-15173284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs528486971	chr7:15173298-15173299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs116397807	chr7:15173329-15173330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs548338691	chr7:15173371-15173372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs532619339	chr7:15173492-15173493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

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

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:15171200-15175800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr7:15171600-15175800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr7:15171600-15175800	Weak transcription	NHEK	skin
4	chr7:15175800-15176200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr7:15175800-15176200	Enhancers	NHEK	skin
6	chr7:15175800-15176400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr7:15180600-15180800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr7:15180800-15185600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr7:15195400-15200600	Enhancers	Colon Smooth Muscle	Colon
10	chr7:15195800-15196000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr7:15196000-15199200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr7:15197000-15198800	Enhancers	Rectal Smooth Muscle	rectum
13	chr7:15197800-15198200	Enhancers	Duodenum Smooth Muscle	Duodenum
14	chr7:15197800-15198400	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr7:15197800-15198400	Enhancers	H9 Cell Line	embryonic stem cell
16	chr7:15197800-15198400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr7:15197800-15198400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr7:15197800-15198400	Enhancers	NHDF-Ad	bronchial
19	chr7:15197800-15199200	Enhancers	Fetal Muscle Leg	muscle
20	chr7:15197800-15199400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr7:15197800-15199600	Enhancers	Ovary	ovary
22	chr7:15197800-15199800	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr7:15197800-15199800	Enhancers	Fetal Stomach	stomach
24	chr7:15197800-15200000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr7:15198000-15198400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr7:15198000-15198400	Enhancers	HUVEC	blood vessel
27	chr7:15198200-15198600	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr7:15198200-15199800	Enhancers	Stomach Smooth Muscle	stomach
29	chr7:15198400-15199200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr7:15198600-15199200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr7:15198600-15199400	Enhancers	Duodenum Smooth Muscle	Duodenum
32	chr7:15198800-15199200	Weak transcription	Rectal Smooth Muscle	rectum
33	chr7:15199000-15199600	Enhancers	Placenta Amnion	Placenta Amnion
34	chr7:15199200-15199400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr7:15199200-15199800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr7:15199200-15200000	Enhancers	Rectal Smooth Muscle	rectum
37	chr7:15200000-15204800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr7:15200600-15201000	Weak transcription	Colon Smooth Muscle	Colon
39	chr7:15204800-15206000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr7:15206600-15207800	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr7:15207200-15207800	Enhancers	Pancreatic Islets	Pancreatic Islet
42	chr7:15207200-15208600	Enhancers	Colon Smooth Muscle	Colon
43	chr7:15207400-15207800	Enhancers	Rectal Smooth Muscle	rectum
44	chr7:15207800-15208200	Weak transcription	Pancreatic Islets	Pancreatic Islet
45	chr7:15208000-15208200	Enhancers	Liver	Liver
46	chr7:15208000-15209800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr7:15208200-15208400	Enhancers	Pancreatic Islets	Pancreatic Islet
48	chr7:15208200-15213800	Weak transcription	Liver	Liver
49	chr7:15208400-15209600	Weak transcription	Pancreatic Islets	Pancreatic Islet
50	chr7:15209600-15210000	Enhancers	Pancreatic Islets	Pancreatic Islet

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