Variant report

Variant	esv3403091
Chromosome Location	chr2:52099350-52130016
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	2:51745267-51754233..2:52106672-52112664	GM12878	blood:
2	2:51664217-51674289..2:52100874-52104046	H1-hESC	embryonic stem cell:	embryo
3	2:51785137-51786126..2:52106672-52112664	GM12878	blood:
4	chr2:52097711..52099315-chr2:52104533..52106401,2	K562	blood:
5	2:51664217-51674289..2:52112664-52117037	K562	blood:

Extended variants
information (count: 727 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:727 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs139373991	chr2:52107022-52107023	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs562164544	chr2:52107071-52107072	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs185050585	chr2:52107111-52107112	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs11125392	chr2:52107116-52107117	Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
5	rs564846629	chr2:52107137-52107138	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs117769133	chr2:52107162-52107163	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs138374339	chr2:52107191-52107192	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs28965795	chr2:52107215-52107216	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs17868279	chr2:52107220-52107221	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs13033522	chr2:52107242-52107243	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs369711918	chr2:52107243-52107244	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs28948369	chr2:52107249-52107250	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs551478551	chr2:52107279-52107280	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs566795996	chr2:52107290-52107291	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs373406031	chr2:52107293-52107294	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs533804164	chr2:52107323-52107324	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs555538366	chr2:52107334-52107335	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs573472306	chr2:52107340-52107341	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs542351865	chr2:52107361-52107362	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs188984213	chr2:52107362-52107363	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs555874851	chr2:52107367-52107368	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs114388598	chr2:52107398-52107399	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs145161062	chr2:52107412-52107413	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs559854520	chr2:52107424-52107425	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs573486845	chr2:52107442-52107443	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs550984190	chr2:52107445-52107446	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs540543451	chr2:52107474-52107475	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs137937746	chr2:52107495-52107496	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs17868280	chr2:52107502-52107503	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs551177311	chr2:52107503-52107504	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs181669637	chr2:52107541-52107542	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs533454134	chr2:52107567-52107568	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs370586345	chr2:52107601-52107602	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs184603609	chr2:52107630-52107631	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs547333912	chr2:52107634-52107635	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs140628173	chr2:52107691-52107692	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs566704241	chr2:52107771-52107772	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs534114461	chr2:52107793-52107794	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs149453921	chr2:52107795-52107796	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs567207826	chr2:52107817-52107818	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs374829094	chr2:52107859-52107860	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs189876743	chr2:52107866-52107867	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs180674575	chr2:52107876-52107877	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs72880549	chr2:52107884-52107885	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs72880551	chr2:52107892-52107893	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs141180192	chr2:52107922-52107923	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs553459271	chr2:52107926-52107927	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs28965796	chr2:52107951-52107952	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs542593287	chr2:52107955-52107956	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs373677055	chr2:52107967-52107968	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
small cell lung cancer	20016488	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
Lung cancer	17297452	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Schizophrenia	20433910	CNVD
Autism	21701786	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Austim spectrum disorder	21302340	CNVD
Schizophrenia	20587603	CNVD
Schizophrenia	20553308	CNVD
Autism	22241247	CNVD
Myelofibrosis	22110671	CNVD
Lung adenocarcinoma	17086460	CNVD
Retinoblastoma	22278416	CNVD
Cancer	21183584	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	18768390	CNVD
Mental retardation	19521722	CNVD
Schizophrenia	18990708	CNVD
Schizophrenia	18940311	CNVD
Schizophrenia	19348701	CNVD
Schizophrenia	18945720	CNVD
Schizophrenia	19571808	CNVD
Prostate cancer	16573809	CNVD
Neuroticism	17667963	CNVD
Schizophrenia	19443537	CNVD
Schizophrenia	19546859	CNVD
Autism	17322880	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
Bipolar disorder	19114987	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:52107000-52108400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr2:52108000-52108400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr2:52112800-52114200	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr2:52115400-52115800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr2:52115600-52115800	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr2:52115800-52129400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr2:52116000-52116800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr2:52116800-52117200	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr2:52127000-52127400	Enhancers	iPS-15b Cell Line	embryonic stem cell

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