Variant report

Variant	nsv582709
Chromosome Location	chr2:113804744-113810062
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	chr2:113808473..113809153-chr2:113816777..113817326,2	K562	blood:
2	chr2:113808741..113811211-chr2:113813910..113818157,4	K562	blood:

Variant related genes	Relation type
ENSG00000136695	chromatin interactions

Extended variants
information (count: 255 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:255 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs34498045	chr2:113804744-113804745	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs532541175	chr2:113804745-113804746	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs552261559	chr2:113804780-113804781	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs35805200	chr2:113804791-113804792	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs141152799	chr2:113804806-113804807	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs569255726	chr2:113804821-113804822	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs374677144	chr2:113804836-113804837	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs182315566	chr2:113804837-113804838	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs567582865	chr2:113804847-113804848	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs536169546	chr2:113804879-113804880	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs550019365	chr2:113804912-113804913	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs368542435	chr2:113804921-113804922	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs569866817	chr2:113804930-113804931	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs540219713	chr2:113804993-113804994	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs35151387	chr2:113804996-113804997	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs13398479	chr2:113804997-113804998	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs371356046	chr2:113805000-113805001	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs558728492	chr2:113805017-113805018	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs539601918	chr2:113805044-113805045	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs189976128	chr2:113805053-113805054	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs537918596	chr2:113805054-113805055	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs555033563	chr2:113805057-113805058	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs575017995	chr2:113805060-113805061	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs534641619	chr2:113805071-113805072	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs10179714	chr2:113805118-113805119	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs182603414	chr2:113805136-113805137	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs543782334	chr2:113805163-113805164	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs367668683	chr2:113805177-113805178	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs34645153	chr2:113805229-113805230	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs113009521	chr2:113805237-113805238	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs545983924	chr2:113805243-113805244	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs150707817	chr2:113805281-113805282	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs542843202	chr2:113805312-113805313	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs34294724	chr2:113805369-113805370	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs542271738	chr2:113805385-113805386	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs553246913	chr2:113805388-113805389	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs561959184	chr2:113805408-113805409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs573132447	chr2:113805419-113805420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs183506850	chr2:113805423-113805424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs549817697	chr2:113805467-113805468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs188389852	chr2:113805495-113805496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs569958226	chr2:113805500-113805501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs193250801	chr2:113805547-113805548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs185718194	chr2:113805580-113805581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs565815742	chr2:113805620-113805621	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs534436293	chr2:113805639-113805640	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs371798246	chr2:113805650-113805651	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs554622045	chr2:113805679-113805680	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs62157692	chr2:113805784-113805785	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs721870	chr2:113805806-113805807	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
lymphocytic leukemia	21291569	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Colorectal cancer	16912164	CNVD
Ischaemic stroke	16980335	CNVD
Acute myeloid leukemia	18000384	CNVD
Nephronophthisis	17901113	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	17699850	CNVD
Ovarian cancer	17699850	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Myelofibrosis	22110671	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113804600-113805400	Enhancers	Fetal Intestine Large	intestine
2	chr2:113804600-113805400	Enhancers	Fetal Intestine Small	intestine
3	chr2:113805400-113805600	Weak transcription	Fetal Intestine Small	intestine
4	chr2:113805400-113805800	Weak transcription	Fetal Intestine Large	intestine
5	chr2:113805600-113806000	Enhancers	Fetal Intestine Small	intestine
6	chr2:113805800-113806000	Enhancers	Fetal Intestine Large	intestine
7	chr2:113806000-113808600	Weak transcription	Fetal Intestine Large	intestine
8	chr2:113806000-113809000	Weak transcription	Fetal Intestine Small	intestine
9	chr2:113808400-113808800	Weak transcription	Right Atrium	heart
10	chr2:113808600-113811600	Enhancers	Fetal Intestine Large	intestine
11	chr2:113809000-113809200	Enhancers	Fetal Intestine Small	intestine
12	chr2:113809000-113809200	ZNF genes & repeats	Right Atrium	heart
13	chr2:113809200-113809600	Weak transcription	Fetal Intestine Small	intestine
14	chr2:113809400-113813800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr2:113809600-113811200	Enhancers	Fetal Intestine Small	intestine

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