Variant report

Variant	esv3508791
Chromosome Location	chr2:126441695-126452274
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:126441721..126443799-chr2:126451980..126453632,2	K562	blood:
2	chr2:126441721..126443799-chr2:126451980..126453632,2	K562	blood:
3	chr2:126441149..126442866-chr2:126450432..126451944,2	K562	blood:
4	chr2:126441149..126442866-chr2:126450432..126451944,2	K562	blood:

Extended variants
information (count: 85 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:85 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs184945233	chr2:126441710-126441711	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs576963885	chr2:126441715-126441716	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs545877065	chr2:126441733-126441734	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs562570615	chr2:126441768-126441769	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs531564172	chr2:126441774-126441775	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs144583503	chr2:126441776-126441777	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs2052813	chr2:126441777-126441778	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs13427484	chr2:126441788-126441789	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs13024727	chr2:126441790-126441791	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs566536046	chr2:126441800-126441801	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs532277255	chr2:126441801-126441802	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs574688131	chr2:126441805-126441806	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs138533909	chr2:126441826-126441827	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs141589615	chr2:126441842-126441843	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs190195294	chr2:126441866-126441867	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs375470706	chr2:126441867-126441868	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs180982420	chr2:126441978-126441979	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs185809719	chr2:126441981-126441982	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs568781225	chr2:126442004-126442005	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs1863682	chr2:126442014-126442015	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs146228132	chr2:126442029-126442030	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs559725915	chr2:126442036-126442037	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs577000922	chr2:126442098-126442099	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs545909704	chr2:126442238-126442239	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs933964	chr2:126442332-126442333	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs545471045	chr2:126442375-126442376	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs576032359	chr2:126442408-126442409	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs542257217	chr2:126442426-126442427	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs562479895	chr2:126442431-126442432	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs148349121	chr2:126442456-126442457	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs559408885	chr2:126442465-126442466	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs189969513	chr2:126442543-126442544	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs560414946	chr2:126442565-126442566	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs532309194	chr2:126442653-126442654	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs181192111	chr2:126442655-126442656	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs562519583	chr2:126442674-126442675	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs186058849	chr2:126442763-126442764	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs372025955	chr2:126442764-126442765	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs7587664	chr2:126442788-126442789	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs567947252	chr2:126442791-126442792	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs141541835	chr2:126442794-126442795	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs199772521	chr2:126442795-126442796	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs547745405	chr2:126442796-126442797	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs201158971	chr2:126442806-126442807	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs369983539	chr2:126442807-126442808	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs570721314	chr2:126442812-126442813	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs146473538	chr2:126442813-126442814	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs7587498	chr2:126442814-126442815	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs62159979	chr2:126442815-126442816	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs57899251	chr2:126442818-126442819	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	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
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Mental retardation	17621639	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Medulloblastoma	16968546	CNVD
Neurocytoma	17123091	CNVD
Developmental delay	21147756	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:126441400-126443000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr2:126441600-126443200	Enhancers	GM12878-XiMat	blood
3	chr2:126442800-126443200	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr2:126443000-126443200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr2:126451800-126453200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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