Variant report

Variant	nsv525691
Chromosome Location	chr8:130627555-130631930
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	chr8:130626321..130628094-chr8:130634050..130635851,2	K562	blood:
2	chr8:130564817..130567306-chr8:130626879..130628964,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GSDMC-7	chr8:130630695-130631129	expReg_chr8_7058_-

Extended variants
information (count: 151 )
Associated
traits (count: 153 )

Variant overlapped rSNPs/rCNVs (count:151 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7814618	chr8:130627555-130627556	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs191041509	chr8:130627582-130627583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs114248887	chr8:130627587-130627588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs116476325	chr8:130627589-130627590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs182804891	chr8:130627669-130627670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs549198596	chr8:130627684-130627685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs537895231	chr8:130627698-130627699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs556127695	chr8:130627736-130627737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs185530364	chr8:130627835-130627836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs535529132	chr8:130627854-130627855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs554768970	chr8:130627895-130627896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs528195253	chr8:130627957-130627958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs16904126	chr8:130627979-130627980	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs372203854	chr8:130627984-130627985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs540414775	chr8:130628001-130628002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs190382522	chr8:130628004-130628005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs111975304	chr8:130628015-130628016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs7834911	chr8:130628036-130628037	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs368988113	chr8:130628072-130628073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs544266253	chr8:130628085-130628086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs562304480	chr8:130628088-130628089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs151066807	chr8:130628091-130628092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs141007764	chr8:130628173-130628174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs556275971	chr8:130628212-130628213	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs568273627	chr8:130628262-130628263	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs560177942	chr8:130628263-130628264	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs111603448	chr8:130628280-130628281	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs552349425	chr8:130628321-130628322	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs570848265	chr8:130628378-130628379	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs531842764	chr8:130628446-130628447	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs549764882	chr8:130628500-130628501	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs150186704	chr8:130628503-130628504	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs535963282	chr8:130628526-130628527	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs528707940	chr8:130628528-130628529	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs79729596	chr8:130628567-130628568	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs16904127	chr8:130628606-130628607	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs534027869	chr8:130628616-130628617	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs572051379	chr8:130628640-130628641	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs558777213	chr8:130628711-130628712	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs545818468	chr8:130628717-130628718	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs577220125	chr8:130628727-130628728	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs576756186	chr8:130628729-130628730	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs138837113	chr8:130628738-130628739	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs113940198	chr8:130628795-130628796	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs558159005	chr8:130628802-130628803	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs7823123	chr8:130628808-130628809	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs73710411	chr8:130628871-130628872	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs183008298	chr8:130628928-130628929	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs116700825	chr8:130629020-130629021	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs545994347	chr8:130629027-130629028	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:153)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Ewing''s sarcoma	21437220	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Gastric cancer	17908304	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Testicular cancer	18059402	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
abnormal development	18461090	CNVD
Oral cancer	21386901	CNVD
Uveal melanoma	21693616	CNVD
Langer-Giedion syndrome	22283845	CNVD
Cancer	21637783	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	20632083	CNVD
Breast cancer	17603634	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	19627613	CNVD
Prostate cancer	21088497	CNVD
colon cancer	17210682	CNVD
Breast cancer	21264507	CNVD
Breast cancer	22028636	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	16751803	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Gastric cancer	17167181	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	16461572	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
head and neck squamous cell carcinoma	18028549	CNVD
Breast cancer	17001317	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	20729466	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	21399628	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	17393978	CNVD
Burkitt''s lymphoma	18698080	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Developmental delay	21147756	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Non-small cell lung cancer	19010865	CNVD
small cell lung cancer	20016488	CNVD
Papillary thyroid cancer	17515504	CNVD
Basal cell lymphoma	17053054	CNVD
Gastric cancer	21528007	CNVD
Breast cancer	22532251	CNVD
Cervical cancer	21062161	CNVD
Cancer	21129771	CNVD
benign familial neonatal convulsions	18472482	CNVD
Breast cancer	16417655	CNVD
Astrocytoma	17387387	CNVD
Cancer	21183584	CNVD
Follicular lymphoma	20505157	CNVD
T-cell lymphomas	19863542	CNVD
Colorectal cancer	20709793	CNVD
Medulloblastoma	20607354	CNVD
Breast cancer	20814816	CNVD
Colorectal cancer	22486879	CNVD
Breast cancer	17908964	CNVD
Colorectal cancer	20031965	CNVD
Hepatocellular carcinoma	16750200	CNVD
Ovarian cancer	17908964	CNVD
Ovarian cancer	20031965	CNVD
Prostate cancer	20031965	CNVD
Non-small cell lung cancer	17643093	CNVD
Prostate cancer	19242612	CNVD
Colorectal cancer	16774939	CNVD
Malignant melanoma	17260012	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Acute myeloid leukemia	17268525	CNVD
Acute myeloid leukemia	18379011	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Sezary syndrome	18413736	CNVD
Breast cancer	22048815	CNVD
Colorectal cancer	16912164	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Lung adenocarcinoma	21148746	CNVD
Lung cancer	21911935	CNVD
Breast cancer	20459607	CNVD
Medulloblastoma	19270706	CNVD
Acute myeloid leukemia	19651601	CNVD
Colorectal cancer	21645411	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Colorectal cancer	19455253	CNVD
Glioblastoma multiforme	22286061	CNVD
Colorectal cancer	22860045	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Lung cancer	17925434	CNVD
Non-small cell lung cancer	21829676	CNVD
Prostate cancer	17217626	CNVD
Cancer	17160897	CNVD
Breast cancer	16497871	CNVD
Colorectal cancer	16882699	CNVD
Cystic fibrosis	19273617	CNVD
Chronic stroke	19622162	CNVD
Chordoma	18071362	CNVD
Breast cancer	17850661	CNVD
head and neck squamous cell carcinoma	16740747	CNVD
Gastric cancer	22539939	CNVD
Breast cancer	16272173	CNVD
Uveal melanoma	20484589	CNVD
Ovarian cancer	20844748	CNVD
Multiple myeloma	16616336	CNVD
Breast cancer	16620391	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21611746	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Acute lymphoblastic leukemia	21339820	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:130626400-130628400	Weak transcription	Fetal Lung	lung
2	chr8:130626400-130629400	Weak transcription	Dnd41	blood
3	chr8:130627400-130629600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr8:130628200-130628800	Enhancers	Lung	lung
5	chr8:130628400-130628800	Enhancers	Fetal Muscle Leg	muscle
6	chr8:130628400-130629000	Enhancers	Fetal Stomach	stomach
7	chr8:130628400-130629600	Enhancers	Fetal Lung	lung
8	chr8:130629400-130629800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr8:130629400-130629800	Genic enhancers	Dnd41	blood
10	chr8:130629600-130630000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr8:130629800-130632000	Enhancers	Dnd41	blood
12	chr8:130630000-130632400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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