Variant report

Variant	nsv523674
Chromosome Location	chr7:15503313-15547950
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:15531844..15534427-chr7:15538603..15541203,2	K562	blood:
2	chr7:15531844..15534427-chr7:15538603..15541203,2	K562	blood:
3	chr7:15543347..15544306-chr7:15760242..15761135,3	MCF-7	breast:

Extended variants
information (count: 1450 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:1450 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17168763	chr7:15503313-15503314	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs552684383	chr7:15503361-15503362	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs145105568	chr7:15503413-15503414	Enhancers Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs200433829	chr7:15503595-15503596	Enhancers Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs554554005	chr7:15503624-15503625	Enhancers Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs576451976	chr7:15503664-15503665	Enhancers Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs370109467	chr7:15503684-15503685	Enhancers Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs543944999	chr7:15503735-15503736	Enhancers Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs139042284	chr7:15503736-15503737	Enhancers Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs140593508	chr7:15503738-15503739	Enhancers Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs150097395	chr7:15503783-15503784	Enhancers Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs75492196	chr7:15503799-15503800	Enhancers Active TSS Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs138363479	chr7:15503818-15503819	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs542604095	chr7:15503825-15503826	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs560977899	chr7:15503827-15503828	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs373707917	chr7:15503835-15503836	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs190922681	chr7:15503863-15503864	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs549875393	chr7:15503882-15503883	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs564845900	chr7:15503889-15503890	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs532148131	chr7:15503964-15503965	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs368799501	chr7:15503980-15503981	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs538335135	chr7:15503995-15503996	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs17607513	chr7:15504001-15504002	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs548594675	chr7:15504003-15504004	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs575257278	chr7:15504041-15504042	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs182426935	chr7:15504048-15504049	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs149277267	chr7:15504060-15504061	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs537137366	chr7:15504102-15504103	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs185766795	chr7:15504103-15504104	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs375318683	chr7:15504116-15504117	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs147366302	chr7:15504147-15504148	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs554746057	chr7:15504160-15504161	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs138002259	chr7:15504168-15504169	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs368262876	chr7:15504194-15504195	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs575200296	chr7:15504212-15504213	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs542589980	chr7:15504228-15504229	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs143676054	chr7:15504239-15504240	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs576021295	chr7:15504321-15504322	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs543073784	chr7:15504329-15504330	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs191209087	chr7:15504347-15504348	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs532088756	chr7:15504355-15504356	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs182952793	chr7:15504382-15504383	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs147186737	chr7:15504396-15504397	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs187140281	chr7:15504424-15504425	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs548501301	chr7:15504497-15504498	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs77094098	chr7:15504503-15504504	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs190403513	chr7:15504510-15504511	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs73290421	chr7:15504515-15504516	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs570916092	chr7:15504523-15504524	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs367715925	chr7:15504562-15504563	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

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
Melanoma	17363583	CNVD
Kartagener syndrome	16639409	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	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
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
Colorectal cancer	21645411	CNVD
Breast cancer	22522925	CNVD
Bladder cancer	21909424	CNVD

Chromatin state (count:148 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:15496000-15504800	Enhancers	NHDF-Ad	bronchial
2	chr7:15499200-15503800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr7:15499200-15504800	Weak transcription	Fetal Muscle Leg	muscle
4	chr7:15500400-15504600	Enhancers	Osteobl	bone
5	chr7:15500600-15504800	Enhancers	Muscle Satellite Cultured Cells	--
6	chr7:15500600-15504800	Enhancers	NHLF	lung
7	chr7:15501400-15503600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr7:15502000-15504600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr7:15502400-15504800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr7:15502600-15503800	Enhancers	Fetal Stomach	stomach
11	chr7:15502600-15504000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr7:15502600-15504800	Enhancers	Adipose Nuclei	Adipose
13	chr7:15502800-15504000	Enhancers	Fetal Heart	heart
14	chr7:15503000-15503400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr7:15503000-15504000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr7:15503000-15505000	Enhancers	Duodenum Smooth Muscle	Duodenum
17	chr7:15503200-15503600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr7:15503200-15503600	Weak transcription	Fetal Lung	lung
19	chr7:15503200-15504000	Active TSS	Stomach Smooth Muscle	stomach
20	chr7:15503400-15503800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr7:15503600-15504000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr7:15503600-15504000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr7:15503600-15504400	Enhancers	Fetal Lung	lung
24	chr7:15503600-15504600	Enhancers	Rectal Smooth Muscle	rectum
25	chr7:15503800-15504200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr7:15503800-15504400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr7:15503800-15504600	Weak transcription	Fetal Stomach	stomach
28	chr7:15504000-15504200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr7:15504000-15504400	Flanking Active TSS	Fetal Heart	heart
30	chr7:15504000-15504800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr7:15504200-15504400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr7:15504400-15504800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr7:15504400-15505000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr7:15504400-15505000	Enhancers	Fetal Heart	heart
35	chr7:15504600-15504800	Enhancers	Stomach Smooth Muscle	stomach
36	chr7:15504600-15505200	Enhancers	Fetal Stomach	stomach
37	chr7:15504800-15505000	Enhancers	Fetal Muscle Leg	muscle
38	chr7:15505200-15509000	Weak transcription	Fetal Stomach	stomach
39	chr7:15510600-15511200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr7:15511000-15511200	Enhancers	Fetal Stomach	stomach
41	chr7:15511000-15511600	Enhancers	Brain Substantia Nigra	brain
42	chr7:15511200-15511600	Enhancers	Breast Myoepithelial Primary Cells	Breast
43	chr7:15511600-15512000	Enhancers	Brain Hippocampus Middle	brain
44	chr7:15511600-15512000	Weak transcription	Brain Substantia Nigra	brain
45	chr7:15512000-15512400	Enhancers	Brain Substantia Nigra	brain
46	chr7:15515200-15515400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr7:15515200-15515400	Enhancers	Liver	Liver
48	chr7:15515400-15515600	Flanking Active TSS	Liver	Liver
49	chr7:15515400-15515600	Enhancers	NHDF-Ad	bronchial
50	chr7:15515400-15515800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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