Variant report

Variant	nsv915603
Chromosome Location	chr7:14443884-14624268
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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:13564462..13565362-chr7:14497193..14498173,5	MCF-7	breast:
2	chr7:14487713..14488501-chrX:20040447..20041022,2	MCF-7	breast:
3	chr7:13934057..13934906-chr7:14497131..14498025,4	MCF-7	breast:
4	chr7:14531022..14533829-chr7:14539304..14542023,2	K562	blood:
5	chr7:14466276..14469939-chr7:14469961..14472647,3	K562	blood:
6	chr7:13934709..13935267-chr7:14497324..14498029,2	MCF-7	breast:
7	chr7:14028848..14029461-chr7:14497211..14497977,2	MCF-7	breast:
8	chr7:14503536..14506450-chr7:14511181..14513157,3	K562	blood:
9	chr7:14531022..14533829-chr7:14539304..14542023,2	K562	blood:
10	chr7:14604134..14606678-chr7:14607555..14609898,2	K562	blood:
11	chr7:14466276..14469939-chr7:14469961..14472647,3	K562	blood:
12	chr7:14503536..14506450-chr7:14511181..14513157,3	K562	blood:
13	chr7:14604134..14606678-chr7:14607555..14609898,2	K562	blood:
14	chr16:25087283..25088036-chr7:14482140..14482806,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000006468	chromatin interactions

Extended variants
information (count: 4569 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:4569 , 50 per page) page: 1 2 3 4 5 6 7 ... 92

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs145753695	chr7:14447046-14447047	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs184209130	chr7:14447048-14447049	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs7790717	chr7:14447057-14447058	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs534880796	chr7:14447070-14447071	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs534428054	chr7:14447119-14447120	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs368896991	chr7:14447144-14447145	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs7809958	chr7:14447155-14447156	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs570754919	chr7:14447188-14447189	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs539635163	chr7:14447202-14447203	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs188880315	chr7:14447207-14447208	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs576304576	chr7:14447224-14447225	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs59028783	chr7:14447272-14447273	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs539461603	chr7:14447316-14447317	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs12540554	chr7:14447333-14447334	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs201574535	chr7:14447362-14447363	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs12532918	chr7:14447366-14447367	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs181587924	chr7:14447382-14447383	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs541736623	chr7:14447386-14447387	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs561619857	chr7:14447429-14447430	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs6962080	chr7:14447549-14447550	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs540827409	chr7:14447606-14447607	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs116750222	chr7:14447614-14447615	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs577946967	chr7:14447635-14447636	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs564642290	chr7:14447726-14447727	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs12674246	chr7:14447728-14447729	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs563444419	chr7:14447747-14447748	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs148946758	chr7:14447768-14447769	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs368959651	chr7:14447776-14447777	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs111807463	chr7:14447778-14447779	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs190303815	chr7:14447782-14447783	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs549061633	chr7:14452000-14452001	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs74991282	chr7:14452030-14452031	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs149999554	chr7:14452053-14452054	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs557188030	chr7:14452097-14452098	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs554071653	chr7:14452118-14452119	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs183648608	chr7:14452119-14452120	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs539707805	chr7:14452132-14452133	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs556290687	chr7:14452186-14452187	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs576336921	chr7:14452217-14452218	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs147705230	chr7:14452230-14452231	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs10239634	chr7:14452244-14452245	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs117580122	chr7:14452280-14452281	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs541251745	chr7:14452289-14452290	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs116839044	chr7:14452319-14452320	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs533275055	chr7:14452326-14452327	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs543655106	chr7:14452327-14452328	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs142513092	chr7:14452343-14452344	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs528873651	chr7:14452344-14452345	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs569456792	chr7:14452345-14452346	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs367560040	chr7:14452349-14452350	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:250 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:14447000-14447800	Enhancers	Liver	Liver
2	chr7:14447000-14447800	Enhancers	Fetal Intestine Large	intestine
3	chr7:14452000-14452800	Enhancers	Fetal Heart	heart
4	chr7:14452800-14453000	Flanking Active TSS	Fetal Heart	heart
5	chr7:14453000-14453200	Enhancers	Fetal Heart	heart
6	chr7:14453200-14453400	Flanking Active TSS	Fetal Heart	heart
7	chr7:14453200-14453600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr7:14453400-14454400	Enhancers	Fetal Heart	heart
9	chr7:14453800-14454200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr7:14454000-14454200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr7:14454200-14462400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr7:14454400-14458000	Weak transcription	Fetal Heart	heart
13	chr7:14455600-14458200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr7:14456600-14456800	Enhancers	Fetal Lung	lung
15	chr7:14456800-14458200	Weak transcription	Fetal Lung	lung
16	chr7:14458000-14459600	Enhancers	Fetal Heart	heart
17	chr7:14458200-14458400	Enhancers	Fetal Intestine Small	intestine
18	chr7:14458200-14459600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr7:14458200-14459800	Enhancers	Fetal Lung	lung
20	chr7:14458400-14459400	Weak transcription	Fetal Intestine Small	intestine
21	chr7:14458400-14459800	Enhancers	Fetal Intestine Large	intestine
22	chr7:14459000-14459600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr7:14459200-14459600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr7:14459200-14459600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr7:14459200-14460800	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr7:14459400-14460600	Enhancers	Fetal Intestine Small	intestine
27	chr7:14459600-14465000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr7:14459600-14465200	Weak transcription	Fetal Heart	heart
29	chr7:14459800-14460200	Weak transcription	Fetal Lung	lung
30	chr7:14460200-14460600	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr7:14460200-14460800	Enhancers	Fetal Lung	lung
32	chr7:14460400-14460600	Enhancers	Gastric	stomach
33	chr7:14460400-14460800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr7:14460400-14460800	Enhancers	Liver	Liver
35	chr7:14460400-14460800	Enhancers	Esophagus	oesophagus
36	chr7:14460400-14461000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr7:14461800-14462200	Enhancers	HSMM	muscle
38	chr7:14461800-14462400	Enhancers	Muscle Satellite Cultured Cells	--
39	chr7:14462400-14462600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr7:14465000-14465400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr7:14465200-14465600	Enhancers	Fetal Heart	heart
42	chr7:14465400-14470800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr7:14466800-14470600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr7:14470200-14471000	Enhancers	HUES64 Cell Line	embryonic stem cell
45	chr7:14470400-14471000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr7:14470600-14470800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr7:14470600-14470800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
48	chr7:14470600-14473200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr7:14470800-14471000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr7:14471000-14471800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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