Variant report

Variant	nsv887727
Chromosome Location	chr7:15318473-15397449
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:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:14757340..14758014-chr7:15344576..15345303,4	MCF-7	breast:
2	chr7:15344361..15344992-chr7:15760353..15761140,2	MCF-7	breast:
3	chr7:15365402..15367803-chr7:15593636..15595869,2	MCF-7	breast:
4	chr7:15365462..15366327-chr7:15594881..15595525,2	MCF-7	breast:
5	chr7:15365434..15366404-chr7:16110606..16111525,6	MCF-7	breast:
6	chr7:15344411..15345401-chr7:15760276..15761708,4	MCF-7	breast:
7	chr7:15365412..15365978-chr7:15759570..15760468,2	MCF-7	breast:
8	chr7:15392439..15394759-chr7:15395448..15398263,2	K562	blood:
9	chr7:15365379..15366315-chr7:15760483..15761223,4	MCF-7	breast:
10	chr7:15335615..15338376-chr7:15338605..15341131,2	MCF-7	breast:
11	chr7:15364860..15366538-chr7:15760053..15761291,7	MCF-7	breast:
12	chr7:15392439..15394759-chr7:15395448..15398263,2	K562	blood:
13	chr7:15344409..15345014-chr7:16111015..16111547,2	MCF-7	breast:
14	chr7:15335615..15338376-chr7:15338605..15341131,2	MCF-7	breast:
15	chr7:15344369..15345259-chr7:16109147..16109752,2	MCF-7	breast:

No data

Extended variants
information (count: 3619 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:3619 , 50 per page) page: 1 2 3 4 5 6 7 ... 73

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10258070	chr7:15318473-15318474	Weak transcription Strong transcription Bivalent Enhancer Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs113585977	chr7:15318474-15318475	Weak transcription Strong transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs572745929	chr7:15318486-15318487	Weak transcription Strong transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs111631801	chr7:15318494-15318495	Weak transcription Strong transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs181003194	chr7:15318557-15318558	Weak transcription Strong transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs375451810	chr7:15318566-15318567	Weak transcription Strong transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs556159501	chr7:15318579-15318580	Weak transcription Strong transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs184690748	chr7:15318587-15318588	Weak transcription Strong transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs369459390	chr7:15318603-15318604	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs539119841	chr7:15318605-15318606	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs79943168	chr7:15318619-15318620	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs188709541	chr7:15318628-15318629	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs375261368	chr7:15318633-15318634	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs141510841	chr7:15318641-15318642	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs576090945	chr7:15318650-15318651	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs369529513	chr7:15318674-15318675	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs573845848	chr7:15318690-15318691	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs181549028	chr7:15318736-15318737	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs535468600	chr7:15318746-15318747	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs578084904	chr7:15318748-15318749	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs148711967	chr7:15318750-15318751	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs555164179	chr7:15318755-15318756	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs545480856	chr7:15318769-15318770	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs560574480	chr7:15318781-15318782	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs12333630	chr7:15318794-15318795	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs542849229	chr7:15318816-15318817	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs77080925	chr7:15318833-15318834	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs76573831	chr7:15318884-15318885	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs530110005	chr7:15318887-15318888	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs562110851	chr7:15318905-15318906	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs532774386	chr7:15318921-15318922	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs551017060	chr7:15318947-15318948	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs150911250	chr7:15318966-15318967	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs10447593	chr7:15318969-15318970	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs527423203	chr7:15319026-15319027	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs548891996	chr7:15319032-15319033	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs185879564	chr7:15319042-15319043	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs538108383	chr7:15319058-15319059	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs190744959	chr7:15319066-15319067	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs571625115	chr7:15319088-15319089	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs539037495	chr7:15319091-15319092	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs200802196	chr7:15319094-15319095	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs543140868	chr7:15319103-15319104	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs554837245	chr7:15319112-15319113	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs564704490	chr7:15319127-15319128	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs182192915	chr7:15319133-15319134	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs111798734	chr7:15319180-15319181	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs190701653	chr7:15319187-15319188	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs4624927	chr7:15319214-15319215	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs139387912	chr7:15319217-15319218	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

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
Malignant peripheral nerve sheath tumor	18522746	CNVD
Glioblastoma multiforme	18628472	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
Non-syndromic sensorineural hearing loss	22037309	CNVD
Osteosarcoma	21215367	CNVD

Chromatin state (count:161 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:15317000-15331600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr7:15317600-15318600	Strong transcription	Liver	Liver
3	chr7:15318000-15318600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
4	chr7:15318000-15320400	Enhancers	Fetal Muscle Leg	muscle
5	chr7:15318600-15320400	Weak transcription	Liver	Liver
6	chr7:15318600-15320800	Enhancers	Fetal Muscle Trunk	muscle
7	chr7:15318800-15320400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr7:15319000-15319400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr7:15319200-15319600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr7:15319400-15320200	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr7:15319400-15320200	Enhancers	Ovary	ovary
12	chr7:15319400-15320400	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr7:15319600-15320000	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr7:15320400-15321200	Strong transcription	Liver	Liver
15	chr7:15321200-15322800	Weak transcription	Liver	Liver
16	chr7:15322800-15323000	ZNF genes & repeats	Liver	Liver
17	chr7:15323200-15323800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr7:15323200-15324600	Enhancers	Muscle Satellite Cultured Cells	--
19	chr7:15323800-15324000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr7:15324000-15324200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr7:15331400-15331800	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr7:15331800-15332000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr7:15335800-15337200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr7:15336800-15337200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr7:15337200-15346800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr7:15339800-15340600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr7:15340000-15340200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr7:15340000-15340400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr7:15340600-15343000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr7:15342400-15343400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr7:15343000-15343400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr7:15344200-15344600	Enhancers	NHDF-Ad	bronchial
33	chr7:15344400-15345000	Enhancers	Liver	Liver
34	chr7:15344600-15345000	Weak transcription	NHDF-Ad	bronchial
35	chr7:15345000-15345200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr7:15345000-15345200	Enhancers	NHDF-Ad	bronchial
37	chr7:15345200-15349400	Weak transcription	NHDF-Ad	bronchial
38	chr7:15345200-15352800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr7:15346800-15347000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr7:15347000-15347600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr7:15347400-15347800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr7:15347600-15347800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr7:15348600-15348800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr7:15348600-15348800	Enhancers	Fetal Muscle Leg	muscle
45	chr7:15349400-15349600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr7:15349400-15350000	Enhancers	Fetal Brain Male	brain
47	chr7:15349400-15350600	Enhancers	NHDF-Ad	bronchial
48	chr7:15349600-15349800	Enhancers	Fetal Muscle Leg	muscle
49	chr7:15350000-15350400	Weak transcription	Fetal Brain Male	brain
50	chr7:15350400-15350800	Enhancers	Fetal Brain Male	brain

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