Variant report

Variant	nsv519081
Chromosome Location	chr7:31134317-31136610
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:31132536..31134604-chr7:31146140..31148174,2	K562	blood:
2	chr7:31118458..31121423-chr7:31132674..31135156,2	K562	blood:
3	chr7:31136609..31138321-chr7:31142401..31144993,2	K562	blood:

Extended variants
information (count: 93 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:93 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2267732	chr7:31134317-31134318	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs566772279	chr7:31134336-31134337	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs533875186	chr7:31134346-31134347	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs565261070	chr7:31134361-31134362	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs558791659	chr7:31134381-31134382	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs146716502	chr7:31134417-31134418	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs182807599	chr7:31134455-31134456	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs3216472	chr7:31134480-31134481	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs397822818	chr7:31134489-31134490	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs374356306	chr7:31134490-31134491	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs368602051	chr7:31134491-31134492	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs557499706	chr7:31134510-31134511	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs575781048	chr7:31134518-31134519	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs543261176	chr7:31134522-31134523	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs186801299	chr7:31134523-31134524	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs75489437	chr7:31134534-31134535	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs573364816	chr7:31134536-31134537	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs556240832	chr7:31134537-31134538	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs527651474	chr7:31134567-31134568	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs140296948	chr7:31134644-31134645	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs191312927	chr7:31134681-31134682	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs550116901	chr7:31134710-31134711	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs145305555	chr7:31134731-31134732	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs184967222	chr7:31134740-31134741	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs137884432	chr7:31134802-31134803	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs2267733	chr7:31134809-31134810	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs149031995	chr7:31134830-31134831	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs552228317	chr7:31134855-31134856	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs189593138	chr7:31134867-31134868	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs368169690	chr7:31134876-31134877	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs538571551	chr7:31134882-31134883	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs539037510	chr7:31134906-31134907	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs116979366	chr7:31134950-31134951	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs193052722	chr7:31134958-31134959	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs536375950	chr7:31134979-31134980	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs530327272	chr7:31135054-31135055	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs575047514	chr7:31135067-31135068	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs143415341	chr7:31135131-31135132	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs372192458	chr7:31135157-31135158	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs549257885	chr7:31135161-31135162	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs372771676	chr7:31135208-31135209	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs550387157	chr7:31135224-31135225	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs113684267	chr7:31135232-31135233	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs565243572	chr7:31135259-31135260	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs141537736	chr7:31135295-31135296	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs543817913	chr7:31135323-31135324	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs562176480	chr7:31135330-31135331	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs529619090	chr7:31135358-31135359	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs541605577	chr7:31135369-31135370	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs534131002	chr7:31135388-31135389	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

Disease	PMID	Source
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
Melanoma	18172304	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
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
Endometrioid adenocarcinoma	16974079	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
Non-syndromic sensorineural hearing loss	22570644	CNVD
Cancer	21183584	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	21785460	CNVD
Follicular lymphoma	20505157	CNVD
Williams-beuren syndrome	22470819	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Myelofibrosis	22110671	CNVD
Multiple myeloma	16616336	CNVD
Renal cell carcinoma	18765545	CNVD

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:31101000-31137600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr7:31102000-31134600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr7:31117400-31162000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr7:31123000-31136400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr7:31125600-31144800	Weak transcription	Brain Substantia Nigra	brain
6	chr7:31126800-31136000	Weak transcription	Fetal Muscle Leg	muscle
7	chr7:31127200-31135800	Weak transcription	Fetal Muscle Trunk	muscle
8	chr7:31129000-31148200	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr7:31130400-31136600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr7:31131000-31135400	Weak transcription	Fetal Intestine Small	intestine
11	chr7:31132200-31136600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr7:31132200-31140000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr7:31132400-31136200	Strong transcription	Fetal Stomach	stomach
14	chr7:31132400-31137600	Strong transcription	Fetal Brain Female	brain
15	chr7:31132400-31141000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr7:31132600-31137000	Strong transcription	Brain Germinal Matrix	brain
17	chr7:31132600-31137000	Strong transcription	Brain Inferior Temporal Lobe	brain
18	chr7:31133000-31136600	Strong transcription	Brain Cingulate Gyrus	brain
19	chr7:31133200-31134600	Weak transcription	Brain Anterior Caudate	brain
20	chr7:31133200-31136000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr7:31133200-31154600	Weak transcription	Brain Angular Gyrus	brain
22	chr7:31133400-31154200	Weak transcription	Fetal Brain Male	brain
23	chr7:31134600-31136600	Strong transcription	Brain Anterior Caudate	brain
24	chr7:31134600-31137200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr7:31135400-31136400	Strong transcription	Fetal Intestine Small	intestine
26	chr7:31135800-31137200	Enhancers	Fetal Muscle Trunk	muscle
27	chr7:31136000-31136800	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr7:31136000-31137400	Enhancers	Fetal Muscle Leg	muscle
29	chr7:31136200-31138600	Weak transcription	Fetal Stomach	stomach
30	chr7:31136400-31136600	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
31	chr7:31136400-31136800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr7:31136600-31136800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr7:31136600-31137000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr7:31136600-31143000	Weak transcription	Brain Anterior Caudate	brain
35	chr7:31136600-31149600	Weak transcription	Brain Cingulate Gyrus	brain

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