Variant report

Variant	esv1848645
Chromosome Location	chr2:126423834-126440697
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	chr2:126423393..126427272-chr2:126428665..126431892,3	K562	blood:
2	chr2:126423393..126427272-chr2:126428665..126431892,3	K562	blood:

Extended variants
information (count: 204 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:204 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12624172	chr2:126423834-126423835	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs569021947	chr2:126423859-126423860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs538052640	chr2:126423869-126423870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs554418749	chr2:126423870-126423871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs140481219	chr2:126423910-126423911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs533911859	chr2:126423942-126423943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs3980632	chr2:126423950-126423951	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs576938826	chr2:126424013-126424014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs79435658	chr2:126424015-126424016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs545783197	chr2:126424027-126424028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs35400246	chr2:126424029-126424030	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs182936401	chr2:126424067-126424068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs542508528	chr2:126424088-126424089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs572064488	chr2:126424111-126424112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs562185724	chr2:126424202-126424203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs572290427	chr2:126424211-126424212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs56002803	chr2:126424261-126424262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs564214766	chr2:126424267-126424268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs200011974	chr2:126424298-126424299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs533169683	chr2:126424307-126424308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs76550819	chr2:126424310-126424311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs549866452	chr2:126424324-126424325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs138252506	chr2:126424335-126424336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs367731688	chr2:126424365-126424366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs531551572	chr2:126424409-126424410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs548453057	chr2:126424436-126424437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs114016829	chr2:126424448-126424449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs533949033	chr2:126424475-126424476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs142845364	chr2:126424524-126424525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs544290095	chr2:126424548-126424549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs180872547	chr2:126427801-126427802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs566929906	chr2:126427881-126427882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs539037347	chr2:126427893-126427894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs558957573	chr2:126427916-126427917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs575539364	chr2:126427917-126427918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs537383848	chr2:126427938-126427939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs556951548	chr2:126428015-126428016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs115545094	chr2:126428091-126428092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs371367990	chr2:126428142-126428143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs574168070	chr2:126428177-126428178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs541906112	chr2:126437210-126437211	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs561777830	chr2:126437277-126437278	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs527661427	chr2:126437304-126437305	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs147702946	chr2:126437309-126437310	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs57441255	chr2:126437315-126437316	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs191908241	chr2:126437317-126437318	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs532207959	chr2:126437360-126437361	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs552445701	chr2:126437365-126437366	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs564170077	chr2:126437384-126437385	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs183230899	chr2:126437402-126437403	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:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:126422800-126424600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr2:126427800-126428200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr2:126437200-126437600	Enhancers	Adipose Nuclei	Adipose
4	chr2:126437200-126438600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr2:126437600-126438000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr2:126437600-126438600	Flanking Active TSS	Adipose Nuclei	Adipose
7	chr2:126437800-126438200	Enhancers	Sigmoid Colon	Sigmoid Colon
8	chr2:126437800-126438200	Enhancers	Hela-S3	cervix
9	chr2:126438000-126438600	Enhancers	Colonic Mucosa	Colon
10	chr2:126438000-126439200	Enhancers	Brain Substantia Nigra	brain
11	chr2:126438200-126438400	Enhancers	Rectal Mucosa Donor 29	rectum
12	chr2:126438200-126438600	Enhancers	Brain Anterior Caudate	brain
13	chr2:126438200-126439400	Enhancers	Brain Hippocampus Middle	brain
14	chr2:126438400-126439400	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr2:126438600-126439000	Enhancers	Adipose Nuclei	Adipose
16	chr2:126438600-126440600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr2:126438800-126439200	Enhancers	Brain Cingulate Gyrus	brain
18	chr2:126439000-126439400	Weak transcription	Adipose Nuclei	Adipose
19	chr2:126439400-126440800	Enhancers	Rectal Mucosa Donor 29	rectum
20	chr2:126439400-126441200	Enhancers	Adipose Nuclei	Adipose
21	chr2:126440000-126440200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr2:126440600-126441400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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