Variant report

Variant	nsv1033406
Chromosome Location	chr7:14258197-14294745
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1263 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:1263 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs570532585	chr7:14258216-14258217	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs566929415	chr7:14258252-14258253	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs188369164	chr7:14258341-14258342	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs528890416	chr7:14258346-14258347	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs559179887	chr7:14258355-14258356	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs180900415	chr7:14258422-14258423	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs185950509	chr7:14258448-14258449	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs555199288	chr7:14258541-14258542	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs575041270	chr7:14258574-14258575	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs372904416	chr7:14258589-14258590	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs540202239	chr7:14258700-14258701	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs560137748	chr7:14258759-14258760	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs552892118	chr7:14258767-14258768	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs532451496	chr7:14258786-14258787	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs377311760	chr7:14258796-14258797	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs545930440	chr7:14258811-14258812	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs12699581	chr7:14258834-14258835	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs149860760	chr7:14258864-14258865	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs558494794	chr7:14258867-14258868	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs78630505	chr7:14258916-14258917	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs568309051	chr7:14258922-14258923	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs192037766	chr7:14258924-14258925	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs182297646	chr7:14258932-14258933	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs547394213	chr7:14258939-14258940	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs374745037	chr7:14258946-14258947	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs186229565	chr7:14258953-14258954	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs539530554	chr7:14258975-14258976	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs556271774	chr7:14258988-14258989	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs147961041	chr7:14259034-14259035	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs141929455	chr7:14259050-14259051	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs554881986	chr7:14259169-14259170	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs115931262	chr7:14259184-14259185	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs190620639	chr7:14259185-14259186	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs4584047	chr7:14259246-14259247	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs369289934	chr7:14259262-14259263	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs545792938	chr7:14259279-14259280	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs562957063	chr7:14259295-14259296	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs531725979	chr7:14259323-14259324	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs541978292	chr7:14259329-14259330	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs561760792	chr7:14259345-14259346	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs371878752	chr7:14259349-14259350	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs545277211	chr7:14259366-14259367	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs527567306	chr7:14259370-14259371	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs547754194	chr7:14259420-14259421	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs563434950	chr7:14259449-14259450	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs570459023	chr7:14259458-14259459	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs376178112	chr7:14259480-14259481	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs369205445	chr7:14259505-14259506	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs142668825	chr7:14259586-14259587	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs549522555	chr7:14259625-14259626	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
Pancreatic cancer	17952125	CNVD
Glioblastoma multiforme	18628472	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Colorectal cancer	21645411	CNVD

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:14250000-14273400	Weak transcription	Left Ventricle	heart
2	chr7:14257400-14259000	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr7:14257600-14258600	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr7:14257600-14258600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr7:14257600-14258600	Enhancers	HSMM	muscle
6	chr7:14257800-14258400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr7:14258000-14259400	Enhancers	Muscle Satellite Cultured Cells	--
8	chr7:14258000-14259400	Enhancers	Fetal Intestine Large	intestine
9	chr7:14258200-14259200	Enhancers	Liver	Liver
10	chr7:14258200-14259200	Enhancers	Fetal Intestine Small	intestine
11	chr7:14258400-14258800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr7:14258600-14259200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr7:14258600-14264400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr7:14259000-14259400	Enhancers	Fetal Heart	heart
15	chr7:14259200-14259800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr7:14264000-14264400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr7:14264200-14264800	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr7:14264400-14264600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr7:14264400-14264800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr7:14264400-14264800	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr7:14264600-14264800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr7:14267200-14267400	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr7:14267400-14272400	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr7:14269800-14270000	Enhancers	Fetal Intestine Large	intestine
25	chr7:14270000-14272000	Weak transcription	Fetal Intestine Large	intestine
26	chr7:14271600-14272800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr7:14271800-14275600	Enhancers	Fetal Intestine Small	intestine
28	chr7:14272000-14277000	Enhancers	Fetal Intestine Large	intestine
29	chr7:14272200-14273400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr7:14272400-14273600	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr7:14272600-14273600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr7:14272600-14273600	Enhancers	Muscle Satellite Cultured Cells	--
33	chr7:14272600-14273800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr7:14272600-14273800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr7:14272600-14273800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr7:14272800-14273000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr7:14272800-14273400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr7:14272800-14273400	Enhancers	NHEK	skin
39	chr7:14272800-14273600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr7:14272800-14273600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr7:14272800-14273800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr7:14272800-14273800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr7:14272800-14273800	Enhancers	NH-A	brain
44	chr7:14272800-14274000	Enhancers	Rectal Mucosa Donor 31	rectum
45	chr7:14273000-14273400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr7:14273000-14273400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr7:14273000-14273400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr7:14273000-14273600	Enhancers	iPS-15b Cell Line	embryonic stem cell
49	chr7:14273000-14274600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr7:14273200-14273600	Enhancers	ES-I3 Cell Line	embryonic stem cell

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