Variant report

Variant	nsv607656
Chromosome Location	chr7:78269375-78301419
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:78291912..78294336-chr7:78364604..78366410,2	K562	blood:

Extended variants
information (count: 238 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:238 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs38127	chr7:78269375-78269376	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs553257529	chr7:78269387-78269388	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs10272995	chr7:78269414-78269415	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs566623191	chr7:78269422-78269423	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs189810349	chr7:78269429-78269430	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs555555271	chr7:78269495-78269496	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs116949915	chr7:78269555-78269556	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs544706100	chr7:78269593-78269594	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs78539641	chr7:78269597-78269598	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs117481831	chr7:78272216-78272217	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs559005928	chr7:78272221-78272222	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs75218634	chr7:78272229-78272230	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs373861493	chr7:78272312-78272313	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs534914732	chr7:78272334-78272335	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs374843943	chr7:78277618-78277619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs551513325	chr7:78277619-78277620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs565283910	chr7:78277651-78277652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs369545467	chr7:78277671-78277672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs371659270	chr7:78277672-78277673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs527770998	chr7:78277675-78277676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs563229225	chr7:78277676-78277677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs12705674	chr7:78277679-78277680	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs536219044	chr7:78277697-78277698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs550224854	chr7:78277743-78277744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs116142496	chr7:78277749-78277750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs538865402	chr7:78277753-78277754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs559100515	chr7:78277759-78277760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs374010033	chr7:78277775-78277776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs78159481	chr7:78277783-78277784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs553829830	chr7:78277785-78277786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs184464054	chr7:78277786-78277787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs542574180	chr7:78277858-78277859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs188443084	chr7:78277916-78277917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs371748563	chr7:78277917-78277918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs544915600	chr7:78277920-78277921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs564723506	chr7:78277961-78277962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs527809907	chr7:78277992-78277993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs547508894	chr7:78277996-78277997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs199582184	chr7:78278002-78278003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs561015473	chr7:78278088-78278089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs148548548	chr7:78278120-78278121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs530053426	chr7:78278156-78278157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs181125160	chr7:78278187-78278188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs115112665	chr7:78278203-78278204	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs539308096	chr7:78278221-78278222	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs116726750	chr7:78278251-78278252	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs139782292	chr7:78278294-78278295	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs554092002	chr7:78278306-78278307	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs2362942	chr7:78278313-78278314	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs71555003	chr7:78278326-78278327	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

Disease	PMID	Source
Basal cell lymphoma	17170743	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	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
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Biliary cancer	19435499	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Hepatocellular carcinoma	16750200	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164920	CNVD
Prostate cancer	18632612	CNVD
Neurodevelopmental disorder	22521361	CNVD
Williams Syndrome	20824207	CNVD
Metanephric adenoma	20802469	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	21364760	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Pancreatic cancer	17952125	CNVD
Williams-beuren syndrome	16826523	CNVD
Schizophrenia	20838587	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Olfactory neuroblastoma	18408657	CNVD
Wilms tumour	19318497	CNVD
Multiple myeloma	16616336	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Schizophrenia	17879154	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	16461572	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Autism	20858243	CNVD

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:78269000-78269400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr7:78269000-78269400	Enhancers	Brain Substantia Nigra	brain
3	chr7:78269200-78269600	Enhancers	Brain Anterior Caudate	brain
4	chr7:78272200-78272400	Enhancers	Left Ventricle	heart
5	chr7:78277600-78278200	Weak transcription	Fetal Brain Male	brain
6	chr7:78278200-78278400	Enhancers	Fetal Brain Male	brain
7	chr7:78279200-78279400	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr7:78279400-78279600	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr7:78279400-78280400	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr7:78279600-78280200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr7:78279600-78280400	Enhancers	H1 Cell Line	embryonic stem cell
12	chr7:78279600-78280400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr7:78279600-78281200	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr7:78279600-78281400	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr7:78280000-78280600	Enhancers	Brain Cingulate Gyrus	brain
16	chr7:78280200-78280800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr7:78280200-78281400	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr7:78280400-78281400	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr7:78280400-78281400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr7:78281000-78281200	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr7:78281400-78281600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr7:78290800-78291000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr7:78292200-78292800	Enhancers	Fetal Brain Male	brain
24	chr7:78292800-78293400	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr7:78293000-78293400	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr7:78300600-78301400	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr7:78300800-78301000	Enhancers	Pancreatic Islets	Pancreatic Islet
28	chr7:78300800-78301400	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr7:78300800-78301600	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr7:78301000-78305400	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr7:78301400-78301800	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr7:78301400-78301800	Enhancers	Brain Inferior Temporal Lobe	brain
33	chr7:78301400-78301800	Enhancers	Fetal Brain Female	brain

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