Variant report

Variant	esv3412600
Chromosome Location	chr2:142306382-142310180
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:
2	chr2:142303735..142305902-chr2:142307985..142310549,2	K562	blood:

Extended variants
information (count: 148 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:148 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568958312	chr2:142306388-142306389	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs76471799	chr2:142306414-142306415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs13012665	chr2:142306473-142306474	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs10200635	chr2:142306508-142306509	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs533011531	chr2:142306517-142306518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs72853570	chr2:142306537-142306538	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs190452566	chr2:142306550-142306551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs62169789	chr2:142306559-142306560	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs147299153	chr2:142306565-142306566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs182168883	chr2:142306567-142306568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs575350199	chr2:142306605-142306606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs544174354	chr2:142306607-142306608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs564143674	chr2:142306638-142306639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs10200582	chr2:142306649-142306650	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs139515256	chr2:142306662-142306663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs145147964	chr2:142306674-142306675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs576661116	chr2:142306697-142306698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs116494314	chr2:142306703-142306704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs568822615	chr2:142306719-142306720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs537959588	chr2:142306729-142306730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs551347107	chr2:142306755-142306756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs571255895	chr2:142306761-142306762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs186570878	chr2:142306765-142306766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs34895794	chr2:142306779-142306780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs144878262	chr2:142306798-142306799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs12104854	chr2:142306807-142306808	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs188284763	chr2:142306810-142306811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs370851690	chr2:142306828-142306829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs180985105	chr2:142306838-142306839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs62169790	chr2:142306883-142306884	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs564138164	chr2:142306887-142306888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs377705667	chr2:142306899-142306900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs200385413	chr2:142306917-142306918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs564280680	chr2:142306940-142306941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs577611716	chr2:142306949-142306950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs540650279	chr2:142307071-142307072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs371364686	chr2:142307113-142307114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs185557592	chr2:142307118-142307119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs528765765	chr2:142307154-142307155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs77562477	chr2:142307160-142307161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs548875576	chr2:142307164-142307165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs16855058	chr2:142307179-142307180	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs12105718	chr2:142307201-142307202	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs551499880	chr2:142307208-142307209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs571396613	chr2:142307276-142307277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs148618753	chr2:142307279-142307280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs547385575	chr2:142307288-142307289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs367873813	chr2:142307294-142307295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs142211562	chr2:142307317-142307318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs536150750	chr2:142307325-142307326	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:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:142305800-142306400	Enhancers	Brain Substantia Nigra	brain
2	chr2:142306200-142312200	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr2:142306400-142312200	Weak transcription	Brain Substantia Nigra	brain

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