Variant report

Variant	nsv887689
Chromosome Location	chr7:13459064-13543729
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:13456011..13457903-chr7:13461716..13464563,2	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:
5	chr7:13499598..13502293-chr7:13502924..13505317,2	MCF-7	breast:

Extended variants
information (count: 509 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:509 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540728836	chr7:13467006-13467007	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs560275218	chr7:13467008-13467009	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs185458819	chr7:13467017-13467018	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs552882848	chr7:13467059-13467060	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs569604217	chr7:13467063-13467064	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs73255272	chr7:13467066-13467067	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs548770140	chr7:13467083-13467084	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs74572322	chr7:13467141-13467142	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs77944690	chr7:13467143-13467144	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs78409269	chr7:13467150-13467151	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs570349674	chr7:13467151-13467152	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs2723431	chr7:13467202-13467203	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs374464883	chr7:13467203-13467204	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs73255273	chr7:13467234-13467235	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs575900300	chr7:13467237-13467238	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs541745017	chr7:13467248-13467249	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs555100416	chr7:13467261-13467262	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs564424137	chr7:13467294-13467295	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs17167106	chr7:13467334-13467335	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs190536012	chr7:13467363-13467364	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs577152190	chr7:13467364-13467365	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs377036303	chr7:13467366-13467367	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs10245770	chr7:13467393-13467394	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs2723432	chr7:13467406-13467407	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs73054910	chr7:13467417-13467418	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs146551947	chr7:13467456-13467457	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs569462366	chr7:13467466-13467467	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs577468869	chr7:13467471-13467472	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs562134583	chr7:13467498-13467499	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs139181509	chr7:13467516-13467517	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs549134367	chr7:13467527-13467528	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs377115982	chr7:13467553-13467554	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs181597767	chr7:13467598-13467599	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs531901829	chr7:13467603-13467604	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs549340638	chr7:13467623-13467624	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs569120468	chr7:13467624-13467625	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs548521126	chr7:13467639-13467640	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs569315646	chr7:13467684-13467685	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs115241337	chr7:13467702-13467703	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs376515629	chr7:13467711-13467712	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs10275653	chr7:13467746-13467747	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs185715155	chr7:13467755-13467756	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs572041941	chr7:13467771-13467772	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs536384881	chr7:13467797-13467798	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs190125824	chr7:13467805-13467806	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs552991588	chr7:13467839-13467840	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs557682548	chr7:13467846-13467847	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs577238551	chr7:13467847-13467848	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs201317559	chr7:13467866-13467867	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs181195146	chr7:13467872-13467873	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:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:13467000-13468000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr7:13496600-13496800	Enhancers	Psoas Muscle	Psoas
3	chr7:13496600-13498000	Enhancers	Brain Germinal Matrix	brain
4	chr7:13497600-13497800	Enhancers	Psoas Muscle	Psoas
5	chr7:13497600-13497800	Enhancers	Skeletal Muscle Male	skeletal muscle
6	chr7:13497600-13498000	Enhancers	Brain Hippocampus Middle	brain
7	chr7:13497600-13498000	Enhancers	Brain Substantia Nigra	brain
8	chr7:13499000-13499200	Enhancers	Psoas Muscle	Psoas
9	chr7:13499200-13499400	Enhancers	Left Ventricle	heart
10	chr7:13499200-13499400	Enhancers	Pancreas	Pancrea
11	chr7:13501600-13502200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr7:13503200-13506400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr7:13505000-13506200	Enhancers	Brain Germinal Matrix	brain
14	chr7:13505400-13505600	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr7:13505600-13506400	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr7:13505600-13507200	Enhancers	Fetal Lung	lung
17	chr7:13506200-13506800	Weak transcription	Brain Germinal Matrix	brain
18	chr7:13506400-13506600	Enhancers	Brain Substantia Nigra	brain
19	chr7:13506400-13506800	Enhancers	Fetal Muscle Leg	muscle
20	chr7:13506400-13507000	Enhancers	H1 Cell Line	embryonic stem cell
21	chr7:13506400-13507000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr7:13506400-13507000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr7:13506400-13507000	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr7:13506400-13507000	Enhancers	Brain Cingulate Gyrus	brain
25	chr7:13506400-13507000	Enhancers	Brain Hippocampus Middle	brain
26	chr7:13506400-13507200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr7:13506400-13507200	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr7:13506400-13507200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr7:13506400-13507200	Enhancers	Fetal Brain Female	brain
30	chr7:13506600-13507000	Flanking Active TSS	Brain Substantia Nigra	brain
31	chr7:13506600-13507000	Enhancers	Fetal Brain Male	brain
32	chr7:13506800-13507000	Enhancers	Brain Germinal Matrix	brain
33	chr7:13507000-13507200	Enhancers	Brain Substantia Nigra	brain
34	chr7:13512000-13512400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr7:13512600-13513600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr7:13516000-13516400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr7:13529000-13529600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr7:13535800-13537400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr7:13536000-13537200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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