Variant report

Variant	esv3421524
Chromosome Location	chr2:142310932-142312680
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	chr2:142308972..142312076-chr2:142313360..142316898,3	K562	blood:

Extended variants
information (count: 78 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:78 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs549441526	chr2:142310975-142310976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs570165770	chr2:142311026-142311027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs374258911	chr2:142311037-142311038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs553075716	chr2:142311039-142311040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs572749430	chr2:142311053-142311054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs72976078	chr2:142311059-142311060	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs555287871	chr2:142311093-142311094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs575225375	chr2:142311132-142311133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs201484124	chr2:142311161-142311162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs71417149	chr2:142311216-142311217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs563873903	chr2:142311234-142311235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs67755049	chr2:142311301-142311302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs375763404	chr2:142311305-142311306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs574848614	chr2:142311306-142311307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs371433461	chr2:142311307-142311308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs374702246	chr2:142311310-142311311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs369062032	chr2:142311314-142311315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs28535887	chr2:142311323-142311324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs557009454	chr2:142311324-142311325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs532607631	chr2:142311329-142311330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs71417150	chr2:142311337-142311338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs184836982	chr2:142311373-142311374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs559844715	chr2:142311409-142311410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs189516134	chr2:142311428-142311429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs548580565	chr2:142311458-142311459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs180691055	chr2:142311468-142311469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs573502042	chr2:142311479-142311480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs567986730	chr2:142311505-142311506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs530717553	chr2:142311546-142311547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs144444781	chr2:142311573-142311574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs183880900	chr2:142311597-142311598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs189715144	chr2:142311612-142311613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs532933777	chr2:142311620-142311621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs529111075	chr2:142311621-142311622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs201955804	chr2:142311660-142311661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs139368184	chr2:142311679-142311680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs546358606	chr2:142311768-142311769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs62169794	chr2:142311808-142311809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs181228233	chr2:142311812-142311813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs62169795	chr2:142311821-142311822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs34580805	chr2:142311838-142311839	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs112314127	chr2:142311843-142311844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs191568657	chr2:142311857-142311858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs200507400	chr2:142311868-142311869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs62169796	chr2:142311878-142311879	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs577363019	chr2:142311913-142311914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs34898402	chr2:142311918-142311919	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs559575834	chr2:142311929-142311930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs181677031	chr2:142311930-142311931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs541813600	chr2:142311941-142311942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

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
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	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
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Mental retardation	22214275	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
Glioblastoma multiforme	19435819	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma	21080181	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Autism	22543975	CNVD
Cancer	20164920	CNVD
Hypertension	22686481	CNVD
Hypospadia	22686481	CNVD
Intellectual disability	22686481	CNVD
Omphalocele	22686481	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Prostate cancer	22341455	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:142306200-142312200	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr2:142306400-142312200	Weak transcription	Brain Substantia Nigra	brain
3	chr2:142312200-142313000	Enhancers	Brain Anterior Caudate	brain
4	chr2:142312200-142313000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
5	chr2:142312200-142313000	Enhancers	Dnd41	blood
6	chr2:142312200-142313600	Enhancers	Brain Inferior Temporal Lobe	brain
7	chr2:142312200-142314600	Enhancers	Brain Substantia Nigra	brain
8	chr2:142312400-142312600	Enhancers	NH-A	brain
9	chr2:142312400-142312800	Enhancers	Brain Angular Gyrus	brain
10	chr2:142312600-142312800	Enhancers	Brain Cingulate Gyrus	brain
11	chr2:142312600-142313600	Weak transcription	NH-A	brain
12	chr2:142312600-142314000	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr2:142312600-142314000	Enhancers	Brain Hippocampus Middle	brain

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