Variant report

Variant	nsv887713
Chromosome Location	chr7:14888418-14939924
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1233 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:1233 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1117750	chr7:14888418-14888419	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs557856983	chr7:14888440-14888441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs141955420	chr7:14888453-14888454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs147319375	chr7:14888455-14888456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs10225316	chr7:14888462-14888463	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs538269184	chr7:14888487-14888488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs554563611	chr7:14888534-14888535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs369719858	chr7:14888550-14888551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs34751007	chr7:14888570-14888571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs113745058	chr7:14888631-14888632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs574715051	chr7:14888669-14888670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs540163682	chr7:14888728-14888729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs560244398	chr7:14888753-14888754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs576646521	chr7:14888756-14888757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs373643368	chr7:14888770-14888771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs375886569	chr7:14888781-14888782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs545479385	chr7:14888807-14888808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs386710629	chr7:14888815-14888816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs36006249	chr7:14888825-14888826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs13235534	chr7:14888826-14888827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs56159434	chr7:14888828-14888829	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs112819682	chr7:14888861-14888862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs115693203	chr7:14888909-14888910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs73281914	chr7:14888917-14888918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs530372192	chr7:14888938-14888939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs145287568	chr7:14888941-14888942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs368165506	chr7:14888942-14888943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs56057308	chr7:14888947-14888948	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs567036223	chr7:14888987-14888988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs532787447	chr7:14888995-14888996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs559276011	chr7:14889001-14889002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs139382862	chr7:14889002-14889003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs569419260	chr7:14889017-14889018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs538232116	chr7:14889028-14889029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs554907484	chr7:14889031-14889032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs568364059	chr7:14889037-14889038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs143408420	chr7:14889057-14889058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs553818335	chr7:14889123-14889124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs375753615	chr7:14889153-14889154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs545641861	chr7:14889166-14889167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs555833843	chr7:14889187-14889188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs575693443	chr7:14889192-14889193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs541564876	chr7:14889245-14889246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs181083248	chr7:14889246-14889247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs371485999	chr7:14889319-14889320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs527305281	chr7:14889357-14889358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs540906521	chr7:14889358-14889359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs560794842	chr7:14889360-14889361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs560023448	chr7:14889413-14889414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs184692236	chr7:14889438-14889439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

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
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:14886400-14891400	Weak transcription	Psoas Muscle	Psoas
2	chr7:14888400-14898600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr7:14889400-14889800	Weak transcription	Osteobl	bone
4	chr7:14889800-14890000	Enhancers	Osteobl	bone
5	chr7:14889800-14890200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr7:14890000-14891200	Weak transcription	Osteobl	bone
7	chr7:14890200-14891400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr7:14891200-14891600	Enhancers	Fetal Heart	heart
9	chr7:14891200-14891800	Enhancers	Osteobl	bone
10	chr7:14891400-14891600	Enhancers	Psoas Muscle	Psoas
11	chr7:14891600-14891800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr7:14891600-14894400	Weak transcription	Fetal Heart	heart
13	chr7:14894200-14894400	Enhancers	Left Ventricle	heart
14	chr7:14894200-14895400	Enhancers	Skeletal Muscle Male	skeletal muscle
15	chr7:14894200-14895400	Enhancers	Skeletal Muscle Female	skeletal muscle
16	chr7:14894400-14895400	Enhancers	Fetal Heart	heart
17	chr7:14895000-14895200	Enhancers	Left Ventricle	heart
18	chr7:14897800-14898400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr7:14898200-14898800	Enhancers	Stomach Mucosa	stomach
20	chr7:14898200-14899000	Active TSS	Pancreatic Islets	Pancreatic Islet
21	chr7:14898600-14898800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr7:14898600-14899000	Enhancers	Osteobl	bone
23	chr7:14908200-14908600	Enhancers	Placenta Amnion	Placenta Amnion
24	chr7:14911000-14911400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr7:14915600-14916000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr7:14919000-14919800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr7:14919600-14920000	Enhancers	Placenta Amnion	Placenta Amnion
28	chr7:14921000-14921400	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr7:14921000-14921400	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr7:14925600-14928200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr7:14926200-14927000	Enhancers	Brain Anterior Caudate	brain
32	chr7:14926800-14927200	Enhancers	Brain Cingulate Gyrus	brain
33	chr7:14927000-14928600	Weak transcription	Brain Anterior Caudate	brain
34	chr7:14927800-14929200	Enhancers	Cortex derived primary cultured neurospheres	brain
35	chr7:14927800-14929200	Enhancers	Osteobl	bone
36	chr7:14928000-14928400	Enhancers	Colon Smooth Muscle	Colon
37	chr7:14928000-14929200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr7:14928200-14929000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr7:14928600-14929000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr7:14928600-14929000	Enhancers	Brain Anterior Caudate	brain
41	chr7:14928600-14929000	Enhancers	Psoas Muscle	Psoas
42	chr7:14928600-14929200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr7:14928600-14929200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr7:14928600-14929200	Enhancers	Skeletal Muscle Female	skeletal muscle
45	chr7:14928800-14929000	Enhancers	Brain Inferior Temporal Lobe	brain
46	chr7:14928800-14929200	Enhancers	Rectal Smooth Muscle	rectum
47	chr7:14929000-14929600	Weak transcription	Brain Anterior Caudate	brain
48	chr7:14929000-14938800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr7:14929000-14940800	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr7:14929200-14930200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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