Variant report

Variant	esv3368273
Chromosome Location	chr2:98232595-98242843
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	chr2:98236811..98238337-chr2:98279045..98280683,2	K562	blood:
2	chr2:98242376..98244442-chr2:98262339..98264310,2	K562	blood:

Variant related genes	Relation type
ENSG00000228486	chromatin interactions
ENSG00000115073	chromatin interactions
ENSG00000135940	chromatin interactions

Extended variants
information (count: 385 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:385 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs544429678	chr2:98232848-98232849	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs189315553	chr2:98232884-98232885	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs369984233	chr2:98232901-98232902	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs574365808	chr2:98232944-98232945	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs372669862	chr2:98232965-98232966	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs377139517	chr2:98233011-98233012	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs559680916	chr2:98233098-98233099	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs79848878	chr2:98233129-98233130	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs535080933	chr2:98233164-98233165	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs371343857	chr2:98233165-98233166	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs543220112	chr2:98233167-98233168	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs373979203	chr2:98233187-98233188	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs562635024	chr2:98233195-98233196	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs192670481	chr2:98233203-98233204	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs548731873	chr2:98233204-98233205	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs184737797	chr2:98233206-98233207	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs527948249	chr2:98233208-98233209	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs190051995	chr2:98233209-98233210	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs377100809	chr2:98233224-98233225	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs549993152	chr2:98233225-98233226	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs570101601	chr2:98233229-98233230	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs535598033	chr2:98233243-98233244	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs554300391	chr2:98233260-98233261	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs2922529	chr2:98233327-98233328	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs574303829	chr2:98233399-98233400	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs533828716	chr2:98233569-98233570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs543284051	chr2:98233653-98233654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs2259991	chr2:98233662-98233663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs572898401	chr2:98233664-98233665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs545747108	chr2:98233680-98233681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs562363122	chr2:98233685-98233686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs576039303	chr2:98233721-98233722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs541568994	chr2:98233757-98233758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs562258115	chr2:98233792-98233793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs527935408	chr2:98233805-98233806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs548088931	chr2:98233807-98233808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs564805824	chr2:98233855-98233856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs533473115	chr2:98233865-98233866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs3882086	chr2:98233915-98233916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs199888712	chr2:98233929-98233930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs550121627	chr2:98233949-98233950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs4069461	chr2:98233950-98233951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs4069462	chr2:98233961-98233962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs569955784	chr2:98233985-98233986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs2595316	chr2:98234055-98234056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs4069464	chr2:98234063-98234064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs564635645	chr2:98234079-98234080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs2922530	chr2:98234095-98234096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs2969467	chr2:98234102-98234103	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs4069466	chr2:98234117-98234118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

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	17483303	CNVD
Medulloblastoma	20607354	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
Ovarian cancer	21781307	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
Breast cancer	21509527	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Glioblastoma multiforme	21138945	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Tetralogy of Fallot	22912587	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:98232800-98233400	Enhancers	Fetal Muscle Trunk	muscle
2	chr2:98233400-98240400	Weak transcription	Fetal Muscle Trunk	muscle
3	chr2:98234400-98234600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr2:98234400-98234600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr2:98234600-98235400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr2:98234800-98235800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr2:98235400-98236200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr2:98235800-98236000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr2:98235800-98236400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr2:98236000-98236200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr2:98236000-98236200	Enhancers	Monocytes-CD14+_RO01746	blood
12	chr2:98236000-98236400	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr2:98236000-98236400	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr2:98236000-98236400	Enhancers	Hela-S3	cervix
15	chr2:98236000-98236400	Enhancers	K562	blood
16	chr2:98236200-98236400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr2:98236200-98240200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr2:98240200-98240800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr2:98240400-98240600	Enhancers	Fetal Muscle Trunk	muscle
20	chr2:98240600-98243400	Weak transcription	Fetal Muscle Trunk	muscle
21	chr2:98240800-98242400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr2:98242200-98242400	Enhancers	NHEK	skin
23	chr2:98242400-98242600	Enhancers	Primary T cells fromperipheralblood	blood
24	chr2:98242400-98242600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr2:98242400-98242800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr2:98242400-98242800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr2:98242400-98243000	Enhancers	Muscle Satellite Cultured Cells	--
28	chr2:98242400-98243000	Enhancers	Spleen	Spleen
29	chr2:98242400-98243000	Enhancers	Hela-S3	cervix

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