Variant report

Variant	esv3345116
Chromosome Location	chr2:126929082-126933580
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 170 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:170 , 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	rs72853115	chr2:126929084-126929085	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs530721134	chr2:126929102-126929103	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs540570428	chr2:126929133-126929134	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs188027999	chr2:126929180-126929181	Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs573203150	chr2:126929214-126929215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs545477385	chr2:126929215-126929216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs565245225	chr2:126929219-126929220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs531086678	chr2:126929228-126929229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs550110890	chr2:126929257-126929258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs193067981	chr2:126929258-126929259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs561211547	chr2:126929265-126929266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs566941712	chr2:126929283-126929284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs530314070	chr2:126929305-126929306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs80035981	chr2:126929307-126929308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs185794588	chr2:126929330-126929331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs78886604	chr2:126929339-126929340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs532049995	chr2:126929382-126929383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs552207110	chr2:126929385-126929386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs568883815	chr2:126929431-126929432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs116383350	chr2:126929463-126929464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs372202990	chr2:126929557-126929558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs373955111	chr2:126929571-126929572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs374928771	chr2:126929572-126929573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs189858148	chr2:126929619-126929620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs534077624	chr2:126929641-126929642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs554150372	chr2:126929701-126929702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs376480365	chr2:126929707-126929708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs573152207	chr2:126929719-126929720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs192198590	chr2:126929749-126929750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs202078021	chr2:126929818-126929819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs146184422	chr2:126929826-126929827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs546318919	chr2:126929861-126929862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs557014769	chr2:126929889-126929890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs28521446	chr2:126929930-126929931	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs183984691	chr2:126929967-126929968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs566484611	chr2:126929968-126929969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs200563586	chr2:126929993-126929994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs201408462	chr2:126929995-126929996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs181416415	chr2:126930007-126930008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs535263256	chr2:126930023-126930024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs540513817	chr2:126930033-126930034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs185903141	chr2:126930060-126930061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs558079268	chr2:126930076-126930077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs189576509	chr2:126930123-126930124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs551903418	chr2:126930133-126930134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs181994362	chr2:126930138-126930139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs531415109	chr2:126930148-126930149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs548352402	chr2:126930154-126930155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs369450227	chr2:126930161-126930162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs568253272	chr2:126930217-126930218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

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

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:126928800-126929200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr2:126929200-126934000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr2:126932600-126934200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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