Variant report

Variant	nsv1028163
Chromosome Location	chr7:13478678-13559505
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:13499598..13502293-chr7:13502924..13505317,2	MCF-7	breast:
2	chr7:13486434..13489093-chr7:13519344..13521855,2	K562	blood:
3	chr7:13499598..13502293-chr7:13502924..13505317,2	MCF-7	breast:
4	chr7:13486434..13489093-chr7:13519344..13521855,2	K562	blood:

Extended variants
information (count: 618 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:618 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7783280	chr7:13496629-13496630	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs7783412	chr7:13496633-13496634	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs187202981	chr7:13496634-13496635	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs547647111	chr7:13496654-13496655	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs192816335	chr7:13496661-13496662	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs78622986	chr7:13496674-13496675	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs182744032	chr7:13496716-13496717	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs553704163	chr7:13496732-13496733	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs569714393	chr7:13496753-13496754	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs10242172	chr7:13496822-13496823	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs36004924	chr7:13496902-13496903	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs149065856	chr7:13496909-13496910	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs565579363	chr7:13496917-13496918	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs534610561	chr7:13496950-13496951	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs187823341	chr7:13496956-13496957	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs578015142	chr7:13496959-13496960	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs543627115	chr7:13497002-13497003	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs556904871	chr7:13497068-13497069	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs576479238	chr7:13497074-13497075	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs541999990	chr7:13497084-13497085	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs562223128	chr7:13497095-13497096	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs527636850	chr7:13497111-13497112	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs11975200	chr7:13497115-13497116	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs564402433	chr7:13497133-13497134	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs533477731	chr7:13497151-13497152	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs35684699	chr7:13497159-13497160	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs550325073	chr7:13497160-13497161	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs17167166	chr7:13497166-13497167	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs146720482	chr7:13497170-13497171	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs548761505	chr7:13497224-13497225	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs565783285	chr7:13497249-13497250	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs193133186	chr7:13497270-13497271	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs10271932	chr7:13497278-13497279	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs184630830	chr7:13497324-13497325	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs10242586	chr7:13497326-13497327	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs577627047	chr7:13497336-13497337	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs557111103	chr7:13497381-13497382	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs187645236	chr7:13497438-13497439	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs150709225	chr7:13497493-13497494	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs555553874	chr7:13497502-13497503	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs572226280	chr7:13497525-13497526	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs10261262	chr7:13497526-13497527	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs564165726	chr7:13497532-13497533	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs2723462	chr7:13497557-13497558	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs117157481	chr7:13497563-13497564	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs10275269	chr7:13497582-13497583	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs7456494	chr7:13497601-13497602	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs528885271	chr7:13497633-13497634	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs529419405	chr7:13497634-13497635	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs570504758	chr7:13497671-13497672	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

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
High-grade prostatic intraepithelial neoplasia	16573809	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
Medulloblastoma	17653508	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
Renal cell carcinoma	18194544	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
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:13496600-13496800	Enhancers	Psoas Muscle	Psoas
2	chr7:13496600-13498000	Enhancers	Brain Germinal Matrix	brain
3	chr7:13497600-13497800	Enhancers	Psoas Muscle	Psoas
4	chr7:13497600-13497800	Enhancers	Skeletal Muscle Male	skeletal muscle
5	chr7:13497600-13498000	Enhancers	Brain Hippocampus Middle	brain
6	chr7:13497600-13498000	Enhancers	Brain Substantia Nigra	brain
7	chr7:13499000-13499200	Enhancers	Psoas Muscle	Psoas
8	chr7:13499200-13499400	Enhancers	Left Ventricle	heart
9	chr7:13499200-13499400	Enhancers	Pancreas	Pancrea
10	chr7:13501600-13502200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr7:13503200-13506400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr7:13505000-13506200	Enhancers	Brain Germinal Matrix	brain
13	chr7:13505400-13505600	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr7:13505600-13506400	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr7:13505600-13507200	Enhancers	Fetal Lung	lung
16	chr7:13506200-13506800	Weak transcription	Brain Germinal Matrix	brain
17	chr7:13506400-13506600	Enhancers	Brain Substantia Nigra	brain
18	chr7:13506400-13506800	Enhancers	Fetal Muscle Leg	muscle
19	chr7:13506400-13507000	Enhancers	H1 Cell Line	embryonic stem cell
20	chr7:13506400-13507000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr7:13506400-13507000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr7:13506400-13507000	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr7:13506400-13507000	Enhancers	Brain Cingulate Gyrus	brain
24	chr7:13506400-13507000	Enhancers	Brain Hippocampus Middle	brain
25	chr7:13506400-13507200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr7:13506400-13507200	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr7:13506400-13507200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr7:13506400-13507200	Enhancers	Fetal Brain Female	brain
29	chr7:13506600-13507000	Flanking Active TSS	Brain Substantia Nigra	brain
30	chr7:13506600-13507000	Enhancers	Fetal Brain Male	brain
31	chr7:13506800-13507000	Enhancers	Brain Germinal Matrix	brain
32	chr7:13507000-13507200	Enhancers	Brain Substantia Nigra	brain
33	chr7:13512000-13512400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr7:13512600-13513600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr7:13516000-13516400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr7:13529000-13529600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr7:13535800-13537400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr7:13536000-13537200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr7:13545400-13545600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr7:13546600-13547400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr7:13546600-13547400	Enhancers	Brain Angular Gyrus	brain
42	chr7:13546600-13547400	Enhancers	Brain Anterior Caudate	brain
43	chr7:13546600-13548800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr7:13547000-13547400	Enhancers	Cortex derived primary cultured neurospheres	brain
45	chr7:13547000-13549200	Enhancers	Breast Myoepithelial Primary Cells	Breast
46	chr7:13547200-13548200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr7:13547400-13548400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr7:13548000-13549400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr7:13548200-13549200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr7:13548400-13548800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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