Variant report

Variant	esv3338230
Chromosome Location	chr2:36045698-36046946
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 59 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:59 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs554427667	chr2:36045756-36045757	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs72873399	chr2:36045773-36045774	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs540212199	chr2:36045835-36045836	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs558630407	chr2:36045855-36045856	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs113510067	chr2:36045860-36045861	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs544282564	chr2:36045865-36045866	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs138092443	chr2:36045868-36045869	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs143664045	chr2:36045876-36045877	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs541686800	chr2:36045882-36045883	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs564187145	chr2:36045901-36045902	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs150566260	chr2:36045927-36045928	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs527635167	chr2:36045956-36045957	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs563060413	chr2:36046000-36046001	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs552450612	chr2:36046049-36046050	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs570474030	chr2:36046062-36046063	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs138194957	chr2:36046073-36046074	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs149589308	chr2:36046107-36046108	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs200343966	chr2:36046121-36046122	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs527318530	chr2:36046124-36046125	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs191060703	chr2:36046131-36046132	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs142226606	chr2:36046222-36046223	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs549664029	chr2:36046235-36046236	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs144203788	chr2:36046253-36046254	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs140043331	chr2:36046262-36046263	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs115451059	chr2:36046275-36046276	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs9678514	chr2:36046311-36046312	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs558495605	chr2:36046372-36046373	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs143896076	chr2:36046401-36046402	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs9679283	chr2:36046408-36046409	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs182896330	chr2:36046434-36046435	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs574488343	chr2:36046472-36046473	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs542005031	chr2:36046473-36046474	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs188474841	chr2:36046541-36046542	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs35486320	chr2:36046550-36046551	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs527492754	chr2:36046559-36046560	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs371580160	chr2:36046560-36046561	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs370098129	chr2:36046563-36046564	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs547491072	chr2:36046586-36046587	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs71879117	chr2:36046599-36046600	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs398060090	chr2:36046601-36046602	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs13384902	chr2:36046655-36046656	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs193184970	chr2:36046668-36046669	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs549800667	chr2:36046671-36046672	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs143839921	chr2:36046672-36046673	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs367943463	chr2:36046678-36046679	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs554049686	chr2:36046688-36046689	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs182929168	chr2:36046693-36046694	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs146400916	chr2:36046725-36046726	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs373598815	chr2:36046745-36046746	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs367776446	chr2:36046749-36046750	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

Disease	PMID	Source
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	17603634	CNVD
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
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Bladder cancer	21909424	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Breast cancer	21364760	CNVD
Wilms tumour	21544195	CNVD
Non-small cell lung cancer	18927303	CNVD
Hereditary gingival fibromatosis	19633868	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Prostate cancer	21965145	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
Neurocytoma	17123091	CNVD
Autism	22495309	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:36044200-36046600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr2:36044400-36046600	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr2:36044400-36048200	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr2:36044600-36046200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr2:36044600-36046400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr2:36044800-36046200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr2:36045200-36045800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr2:36045400-36046400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr2:36045600-36046200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr2:36045600-36046400	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr2:36045600-36050600	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr2:36045800-36047000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr2:36046200-36046400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr2:36046200-36046800	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr2:36046200-36047200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr2:36046400-36046600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr2:36046400-36046600	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr2:36046400-36047400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
19	chr2:36046400-36048000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr2:36046400-36050200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr2:36046400-36050600	Enhancers	H1 Cell Line	embryonic stem cell
22	chr2:36046600-36047000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr2:36046600-36047400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
24	chr2:36046600-36047600	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr2:36046600-36050600	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr2:36046600-36050800	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr2:36046800-36047200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr2:36046800-36047200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
29	chr2:36046800-36048800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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