Variant report

Variant	nsv1028108
Chromosome Location	chr7:15304744-15374099
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:0)
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	chr7:15344409..15345014-chr7:16111015..16111547,2	MCF-7	breast:
2	chr7:15344369..15345259-chr7:16109147..16109752,2	MCF-7	breast:
3	chr7:15335615..15338376-chr7:15338605..15341131,2	MCF-7	breast:
4	chr7:15364860..15366538-chr7:15760053..15761291,7	MCF-7	breast:
5	chr7:15344411..15345401-chr7:15760276..15761708,4	MCF-7	breast:
6	chr7:15335615..15338376-chr7:15338605..15341131,2	MCF-7	breast:
7	chr7:15365412..15365978-chr7:15759570..15760468,2	MCF-7	breast:
8	chr7:15365379..15366315-chr7:15760483..15761223,4	MCF-7	breast:
9	chr7:15344361..15344992-chr7:15760353..15761140,2	MCF-7	breast:
10	chr7:15365462..15366327-chr7:15594881..15595525,2	MCF-7	breast:
11	chr7:15365434..15366404-chr7:16110606..16111525,6	MCF-7	breast:
12	chr7:15365402..15367803-chr7:15593636..15595869,2	MCF-7	breast:
13	chr7:14757340..14758014-chr7:15344576..15345303,4	MCF-7	breast:

No data

Extended variants
information (count: 2365 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:2365 , 50 per page) page: 1 2 3 4 5 6 7 ... 48

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs141128653	chr7:15306026-15306027	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs397950423	chr7:15306034-15306035	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs566572535	chr7:15306037-15306038	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs149815210	chr7:15306056-15306057	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs56142823	chr7:15306090-15306091	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs537704333	chr7:15306122-15306123	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs552428103	chr7:15306145-15306146	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs562655134	chr7:15306168-15306169	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs531345491	chr7:15306195-15306196	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs145869496	chr7:15306199-15306200	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs568016831	chr7:15306209-15306210	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs567066544	chr7:15306216-15306217	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs533792187	chr7:15306219-15306220	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs546955736	chr7:15306221-15306222	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs183365858	chr7:15306287-15306288	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs187287064	chr7:15306321-15306322	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs75722224	chr7:15306341-15306342	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs140691957	chr7:15306370-15306371	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs145893854	chr7:15306392-15306393	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs557620284	chr7:15306410-15306411	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs538896860	chr7:15306411-15306412	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs559180834	chr7:15306443-15306444	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs569426691	chr7:15306444-15306445	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs538405604	chr7:15306457-15306458	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs113971819	chr7:15306463-15306464	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs13239451	chr7:15306468-15306469	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs13239453	chr7:15306473-15306474	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs200627843	chr7:15306493-15306494	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs575893991	chr7:15306520-15306521	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs572184884	chr7:15306526-15306527	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs140226025	chr7:15306530-15306531	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs374938768	chr7:15306544-15306545	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs73679459	chr7:15306566-15306567	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs576473631	chr7:15306583-15306584	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs375739969	chr7:15306597-15306598	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs78933743	chr7:15306602-15306603	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs565332627	chr7:15306618-15306619	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs532636269	chr7:15306632-15306633	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs541208076	chr7:15306641-15306642	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs192105552	chr7:15306679-15306680	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs78804084	chr7:15306680-15306681	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs548443677	chr7:15306696-15306697	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs369059329	chr7:15306704-15306705	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs570028498	chr7:15306706-15306707	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs186228733	chr7:15316209-15316210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs543052626	chr7:15316226-15316227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs571149210	chr7:15316249-15316250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs543440780	chr7:15316255-15316256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs564915553	chr7:15316272-15316273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs191084742	chr7:15316394-15316395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

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

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:15306000-15306800	Enhancers	Muscle Satellite Cultured Cells	--
2	chr7:15306000-15306800	Enhancers	HUVEC	blood vessel
3	chr7:15316200-15317600	Weak transcription	Liver	Liver
4	chr7:15317000-15331600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr7:15317600-15318600	Strong transcription	Liver	Liver
6	chr7:15318000-15318600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
7	chr7:15318000-15320400	Enhancers	Fetal Muscle Leg	muscle
8	chr7:15318600-15320400	Weak transcription	Liver	Liver
9	chr7:15318600-15320800	Enhancers	Fetal Muscle Trunk	muscle
10	chr7:15318800-15320400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr7:15319000-15319400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr7:15319200-15319600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr7:15319400-15320200	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr7:15319400-15320200	Enhancers	Ovary	ovary
15	chr7:15319400-15320400	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr7:15319600-15320000	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr7:15320400-15321200	Strong transcription	Liver	Liver
18	chr7:15321200-15322800	Weak transcription	Liver	Liver
19	chr7:15322800-15323000	ZNF genes & repeats	Liver	Liver
20	chr7:15323200-15323800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr7:15323200-15324600	Enhancers	Muscle Satellite Cultured Cells	--
22	chr7:15323800-15324000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr7:15324000-15324200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr7:15331400-15331800	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr7:15331800-15332000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr7:15335800-15337200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr7:15336800-15337200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr7:15337200-15346800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr7:15339800-15340600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr7:15340000-15340200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr7:15340000-15340400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr7:15340600-15343000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr7:15342400-15343400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr7:15343000-15343400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr7:15344200-15344600	Enhancers	NHDF-Ad	bronchial
36	chr7:15344400-15345000	Enhancers	Liver	Liver
37	chr7:15344600-15345000	Weak transcription	NHDF-Ad	bronchial
38	chr7:15345000-15345200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr7:15345000-15345200	Enhancers	NHDF-Ad	bronchial
40	chr7:15345200-15349400	Weak transcription	NHDF-Ad	bronchial
41	chr7:15345200-15352800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr7:15346800-15347000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr7:15347000-15347600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr7:15347400-15347800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr7:15347600-15347800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr7:15348600-15348800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr7:15348600-15348800	Enhancers	Fetal Muscle Leg	muscle
48	chr7:15349400-15349600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr7:15349400-15350000	Enhancers	Fetal Brain Male	brain
50	chr7:15349400-15350600	Enhancers	NHDF-Ad	bronchial

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