Variant report

Variant	nsv606359
Chromosome Location	chr7:18751998-18787563
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:18764685..18767468-chr7:18769074..18771376,2	K562	blood:
2	chr7:18764685..18767468-chr7:18769074..18771376,2	K562	blood:
3	chr7:18754975..18757924-chr7:18766761..18768655,2	K562	blood:
4	chr7:18754975..18757924-chr7:18766761..18768655,2	K562	blood:

Extended variants
information (count: 1728 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:1728 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1178118	chr7:18751998-18751999	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs568721198	chr7:18752002-18752003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs184699988	chr7:18752027-18752028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs7811778	chr7:18752030-18752031	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs10280856	chr7:18752037-18752038	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs188625516	chr7:18752049-18752050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs569283138	chr7:18752059-18752060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs185961237	chr7:18752071-18752072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs542316521	chr7:18752101-18752102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs563735848	chr7:18752136-18752137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs566290236	chr7:18752143-18752144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs575930684	chr7:18752170-18752171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs546446210	chr7:18752268-18752269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs564654277	chr7:18752293-18752294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs201075900	chr7:18752310-18752311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs190832748	chr7:18752313-18752314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs546975719	chr7:18752347-18752348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs142307123	chr7:18752356-18752357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs528843744	chr7:18752379-18752380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs74654451	chr7:18752400-18752401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs568585656	chr7:18752401-18752402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs76431975	chr7:18752423-18752424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs145922267	chr7:18752425-18752426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs376302959	chr7:18752427-18752428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs566542303	chr7:18752479-18752480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs182221482	chr7:18752498-18752499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs555331047	chr7:18752521-18752522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs574790079	chr7:18752596-18752597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs6946945	chr7:18752615-18752616	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs535211407	chr7:18752635-18752636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs73315435	chr7:18752663-18752664	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs186262634	chr7:18752688-18752689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs191069531	chr7:18752712-18752713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs376527051	chr7:18752739-18752740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs564717571	chr7:18752802-18752803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs573310703	chr7:18752829-18752830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs540931378	chr7:18752850-18752851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs562212217	chr7:18752855-18752856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs547805978	chr7:18752859-18752860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs567291583	chr7:18752902-18752903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs145550281	chr7:18752932-18752933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs73315439	chr7:18752971-18752972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs6947318	chr7:18753002-18753003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs551012668	chr7:18753011-18753012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs148880460	chr7:18753046-18753047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs115967805	chr7:18753071-18753072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs549280319	chr7:18753075-18753076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs143685668	chr7:18753093-18753094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs538120991	chr7:18753144-18753145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs73315440	chr7:18753147-18753148	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:88)

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
Kartagener syndrome	16639409	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	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
Malignant peripheral nerve sheath tumor	18522746	CNVD
Glioblastoma multiforme	18628472	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Heart disease	21282601	CNVD
Rubinstein-Taybi syndrome	22470819	CNVD
Alzheimer''s disease	22166940	CNVD
Abnormal phenotypes	18644119	CNVD
Non-syndromic sensorineural hearing loss	22570644	CNVD
Bladder cancer	21909424	CNVD
Cancer	21183584	CNVD
Autism	20808228	CNVD
Sezary syndrome	18413736	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:18699600-18776000	Weak transcription	Aorta	Aorta
2	chr7:18726200-18790200	Weak transcription	Primary B cells from cord blood	blood
3	chr7:18748000-18788600	Weak transcription	Left Ventricle	heart
4	chr7:18751600-18755600	Weak transcription	Brain Substantia Nigra	brain
5	chr7:18754000-18754400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr7:18754400-18755400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr7:18754600-18755200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr7:18755600-18755800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr7:18755600-18755800	Enhancers	Brain Substantia Nigra	brain
10	chr7:18755800-18756200	Weak transcription	Brain Substantia Nigra	brain
11	chr7:18756200-18756600	Enhancers	Brain Substantia Nigra	brain
12	chr7:18758000-18758200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr7:18765200-18810600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr7:18766400-18768800	Weak transcription	Fetal Brain Female	brain
15	chr7:18766600-18767200	Enhancers	HUVEC	blood vessel
16	chr7:18766600-18767600	Enhancers	Muscle Satellite Cultured Cells	--
17	chr7:18766800-18767200	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr7:18766800-18767400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr7:18766800-18767400	Enhancers	Fetal Muscle Leg	muscle
20	chr7:18767000-18767600	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr7:18767200-18767400	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
22	chr7:18767400-18767600	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr7:18767600-18767800	Strong transcription	Brain Inferior Temporal Lobe	brain
24	chr7:18767800-18769600	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr7:18769200-18771600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr7:18769600-18788600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr7:18771800-18772200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr7:18772200-18772600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr7:18772200-18772600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr7:18772200-18772600	Active TSS	Fetal Lung	lung
31	chr7:18772200-18772600	ZNF genes & repeats	Pancreas	Pancrea
32	chr7:18775000-18782800	Weak transcription	Psoas Muscle	Psoas
33	chr7:18775400-18776400	Enhancers	Primary B cells from peripheral blood	blood
34	chr7:18786600-18786800	Weak transcription	Psoas Muscle	Psoas
35	chr7:18787400-18801800	Weak transcription	Psoas Muscle	Psoas

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