Variant report

Variant	esv1002081
Chromosome Location	chr2:98234099-98240902
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:

Variant related genes	Relation type
ENSG00000228486	chromatin interactions
ENSG00000115073	chromatin interactions

Extended variants
information (count: 275 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:275 , 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	rs2969467	chr2:98234102-98234103	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs4069466	chr2:98234117-98234118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs4069467	chr2:98234161-98234162	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs4069468	chr2:98234162-98234163	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs148431580	chr2:98234176-98234177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs189718055	chr2:98234192-98234193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs556083474	chr2:98234201-98234202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs142585301	chr2:98234203-98234204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs397843460	chr2:98234219-98234220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs397843461	chr2:98234220-98234221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs4069471	chr2:98234236-98234237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs541941956	chr2:98234276-98234277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs2309149	chr2:98234373-98234374	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs2309150	chr2:98234397-98234398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs2871134	chr2:98234399-98234400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs2309151	chr2:98234422-98234423	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs572661497	chr2:98234425-98234426	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs2309152	chr2:98234434-98234435	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs370739130	chr2:98234442-98234443	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs2309153	chr2:98234453-98234454	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs564691333	chr2:98234488-98234489	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs2309154	chr2:98234508-98234509	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs543801643	chr2:98234509-98234510	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs117617873	chr2:98234526-98234527	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs2309155	chr2:98234529-98234530	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs2309156	chr2:98234530-98234531	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs2871135	chr2:98234561-98234562	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs185489654	chr2:98234605-98234606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs190990522	chr2:98234626-98234627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs565799261	chr2:98234645-98234646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs183223836	chr2:98234654-98234655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs58821906	chr2:98234687-98234688	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs2309157	chr2:98234694-98234695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs2309158	chr2:98234695-98234696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs2309159	chr2:98234698-98234699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs2103205	chr2:98234704-98234705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs2103206	chr2:98234705-98234706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs2248545	chr2:98234755-98234756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs2259943	chr2:98234756-98234757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs55830308	chr2:98234785-98234786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs547140790	chr2:98234868-98234869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs2692941	chr2:98234890-98234891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs2692942	chr2:98234906-98234907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs562480576	chr2:98234922-98234923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs187309461	chr2:98234934-98234935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs539710386	chr2:98235007-98235008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs4069472	chr2:98235020-98235021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs191707263	chr2:98235060-98235061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs2692943	chr2:98235080-98235081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs188178350	chr2:98235082-98235083	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:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:98233400-98240400	Weak transcription	Fetal Muscle Trunk	muscle
2	chr2:98234400-98234600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr2:98234400-98234600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr2:98234600-98235400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr2:98234800-98235800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr2:98235400-98236200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr2:98235800-98236000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr2:98235800-98236400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr2:98236000-98236200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr2:98236000-98236200	Enhancers	Monocytes-CD14+_RO01746	blood
11	chr2:98236000-98236400	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr2:98236000-98236400	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr2:98236000-98236400	Enhancers	Hela-S3	cervix
14	chr2:98236000-98236400	Enhancers	K562	blood
15	chr2:98236200-98236400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr2:98236200-98240200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr2:98240200-98240800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr2:98240400-98240600	Enhancers	Fetal Muscle Trunk	muscle
19	chr2:98240600-98243400	Weak transcription	Fetal Muscle Trunk	muscle
20	chr2:98240800-98242400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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