Variant report

Variant	esv3460475
Chromosome Location	chr2:54669165-54673585
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:54663522..54666566-chr2:54666978..54670736,4	K562	blood:
2	chr2:54668438..54670233-chr2:54675850..54678657,2	K562	blood:
3	chr2:54669199..54672020-chr2:54682237..54684507,2	K562	blood:

Variant related genes	Relation type
ENSG00000115306	chromatin interactions

Extended variants
information (count: 195 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:195 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs116524377	chr2:54669201-54669202	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs144349067	chr2:54669206-54669207	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs560672317	chr2:54669233-54669234	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs529379032	chr2:54669246-54669247	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs549515126	chr2:54669252-54669253	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs569258671	chr2:54669258-54669259	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs183652724	chr2:54669269-54669270	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs202024750	chr2:54669274-54669275	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs561138116	chr2:54669337-54669338	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs530017091	chr2:54669361-54669362	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs75289664	chr2:54669373-54669374	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs539358135	chr2:54669394-54669395	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs552702062	chr2:54669404-54669405	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs572721415	chr2:54669406-54669407	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs575428439	chr2:54669473-54669474	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs535165078	chr2:54669489-54669490	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs555073575	chr2:54669490-54669491	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs575131821	chr2:54669497-54669498	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs544238883	chr2:54669594-54669595	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs563935982	chr2:54669601-54669602	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs578161606	chr2:54669629-54669630	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs540951200	chr2:54669661-54669662	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs560635907	chr2:54669699-54669700	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs529545552	chr2:54669751-54669752	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs376150485	chr2:54669791-54669792	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs543120845	chr2:54669809-54669810	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs77233088	chr2:54669810-54669811	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs531598373	chr2:54669818-54669819	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs72911200	chr2:54669821-54669822	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs188989202	chr2:54669828-54669829	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs182476870	chr2:54669852-54669853	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs11888825	chr2:54669855-54669856	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs185420869	chr2:54669901-54669902	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs535314285	chr2:54669910-54669911	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs563298255	chr2:54669953-54669954	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs35714709	chr2:54670034-54670035	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs190571418	chr2:54670035-54670036	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs568897064	chr2:54670094-54670095	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs537548736	chr2:54670106-54670107	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs373300939	chr2:54670142-54670143	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs74766663	chr2:54670149-54670150	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs577582689	chr2:54670207-54670208	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs540914211	chr2:54670217-54670218	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs77235994	chr2:54670220-54670221	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs574280537	chr2:54670242-54670243	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs543283963	chr2:54670253-54670254	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs72913004	chr2:54670254-54670255	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs531781783	chr2:54670261-54670262	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs545192282	chr2:54670269-54670270	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs56268311	chr2:54670290-54670291	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:66)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Williams Syndrome	20824207	CNVD
Breast cancer	16272173	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Lung adenocarcinoma	17086460	CNVD
Retinoblastoma	22278416	CNVD
Cancer	21183584	CNVD
Breast cancer	16397240	CNVD
Lung cancer	17086460	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Hereditary non-polyposis colorectal cancer	19566914	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Developmental delay	21147756	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54667600-54673400	Weak transcription	Lung	lung
2	chr2:54667800-54671400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr2:54667800-54671600	Weak transcription	HepG2	liver
4	chr2:54667800-54673400	Weak transcription	Brain Cingulate Gyrus	brain
5	chr2:54667800-54673400	Weak transcription	Left Ventricle	heart
6	chr2:54667800-54673400	Weak transcription	Right Atrium	heart
7	chr2:54668000-54670600	Weak transcription	Fetal Heart	heart
8	chr2:54668000-54673200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr2:54668400-54673200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr2:54668400-54673200	Weak transcription	Brain Angular Gyrus	brain
11	chr2:54668400-54673200	Weak transcription	Brain Hippocampus Middle	brain
12	chr2:54668400-54673200	Weak transcription	Brain Substantia Nigra	brain
13	chr2:54668600-54671400	Weak transcription	Adipose Nuclei	Adipose
14	chr2:54668600-54671400	Weak transcription	HSMMtube	muscle
15	chr2:54668600-54671600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr2:54668600-54673400	Weak transcription	Brain Anterior Caudate	brain
17	chr2:54668600-54673400	Weak transcription	Fetal Muscle Leg	muscle
18	chr2:54668600-54682000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr2:54668800-54673200	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr2:54668800-54673400	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr2:54670400-54670800	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr2:54670600-54671600	Enhancers	Fetal Heart	heart
23	chr2:54671400-54671800	Enhancers	HSMMtube	muscle
24	chr2:54671400-54672000	Enhancers	Adipose Nuclei	Adipose
25	chr2:54671400-54672000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr2:54671600-54672000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr2:54671600-54672400	Enhancers	HepG2	liver
28	chr2:54671600-54673200	Weak transcription	Fetal Heart	heart
29	chr2:54671800-54673400	Weak transcription	HSMMtube	muscle
30	chr2:54672400-54672800	Weak transcription	HepG2	liver
31	chr2:54672800-54673400	Enhancers	HepG2	liver
32	chr2:54673200-54673600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr2:54673200-54673800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
34	chr2:54673200-54674000	Enhancers	Brain Angular Gyrus	brain
35	chr2:54673200-54674000	Enhancers	Brain Substantia Nigra	brain
36	chr2:54673200-54674000	Enhancers	Fetal Heart	heart
37	chr2:54673200-54674200	Enhancers	Brain Hippocampus Middle	brain
38	chr2:54673200-54674600	Enhancers	Brain Inferior Temporal Lobe	brain
39	chr2:54673400-54673600	Enhancers	Left Ventricle	heart
40	chr2:54673400-54673600	Enhancers	Lung	lung
41	chr2:54673400-54673800	Enhancers	Skeletal Muscle Male	skeletal muscle
42	chr2:54673400-54674000	Enhancers	Brain Anterior Caudate	brain
43	chr2:54673400-54674000	Enhancers	Fetal Muscle Leg	muscle
44	chr2:54673400-54674000	Enhancers	Fetal Thymus	thymus
45	chr2:54673400-54674000	Enhancers	Right Atrium	heart
46	chr2:54673400-54674000	Flanking Active TSS	HepG2	liver
47	chr2:54673400-54674200	Enhancers	Brain Cingulate Gyrus	brain
48	chr2:54673400-54674400	Enhancers	HSMMtube	muscle

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