Variant report

Variant	esv275321
Chromosome Location	chr2:123881204-123890801
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	chr2:123881016..123883017-chr2:123884913..123886799,2	MCF-7	breast:
2	chr2:123881016..123883017-chr2:123884913..123886799,2	MCF-7	breast:

Extended variants
information (count: 287 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:287 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs189920581	chr2:123884003-123884004	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs147451298	chr2:123884004-123884005	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs181194386	chr2:123884033-123884034	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs577425505	chr2:123884035-123884036	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs573539406	chr2:123884036-123884037	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs138579625	chr2:123884038-123884039	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs541920819	chr2:123884094-123884095	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs144084429	chr2:123884110-123884111	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs527892683	chr2:123884128-123884129	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs567082894	chr2:123884200-123884201	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs13388948	chr2:123884231-123884232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs13388953	chr2:123884243-123884244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs13391515	chr2:123884273-123884274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs547743330	chr2:123884275-123884276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs142688929	chr2:123884277-123884278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs564779526	chr2:123884302-123884303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs192805586	chr2:123884319-123884320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs116031142	chr2:123884320-123884321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs72964579	chr2:123884331-123884332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs568806169	chr2:123884343-123884344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs185314123	chr2:123884363-123884364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs78125982	chr2:123884368-123884369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs189281036	chr2:123884384-123884385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs13391651	chr2:123884396-123884397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs568233175	chr2:123884462-123884463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs144360997	chr2:123884467-123884468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs70959069	chr2:123884469-123884470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs55963914	chr2:123884505-123884506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs553721891	chr2:123884517-123884518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs577059538	chr2:123884525-123884526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs182026210	chr2:123884530-123884531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs556472318	chr2:123884567-123884568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs576036266	chr2:123884578-123884579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs564492830	chr2:123884579-123884580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs184990346	chr2:123884598-123884599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs148757210	chr2:123884646-123884647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs142117648	chr2:123884652-123884653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs564563199	chr2:123884680-123884681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs112012553	chr2:123884681-123884682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs544870224	chr2:123884718-123884719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs562435115	chr2:123884737-123884738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs7593176	chr2:123884751-123884752	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs180967470	chr2:123884806-123884807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs372792005	chr2:123884823-123884824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs139118773	chr2:123884840-123884841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs548236172	chr2:123884870-123884871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs141308126	chr2:123884897-123884898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs377142980	chr2:123884898-123884899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs374513490	chr2:123884899-123884900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs565804604	chr2:123884904-123884905	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
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
Acute myeloid leukemia	20729466	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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Developmental delay	21147756	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Bladder cancer	21909424	CNVD
Schizophrenia	23813976	CNVD
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:123884000-123884200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr2:123884200-123889600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr2:123889600-123890200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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