Variant report

Variant	esv3372249
Chromosome Location	chr2:36629955-36630242
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	chr2:36622875..36625167-chr2:36629133..36630867,2	K562	blood:
2	chr2:36624404..36627384-chr2:36629683..36631735,2	MCF-7	breast:

Extended variants
information (count: 16 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs115361250	chr2:36629969-36629970	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs142533676	chr2:36630013-36630014	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs10186135	chr2:36630014-36630015	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs111845380	chr2:36630025-36630026	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs371799386	chr2:36630047-36630048	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs570579761	chr2:36630094-36630095	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs531454079	chr2:36630100-36630101	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs192204841	chr2:36630113-36630114	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs74758876	chr2:36630119-36630120	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs143147588	chr2:36630121-36630122	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs183912458	chr2:36630131-36630132	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs115701960	chr2:36630134-36630135	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs117381450	chr2:36630145-36630146	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs559874249	chr2:36630176-36630177	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs112584069	chr2:36630225-36630226	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs202057234	chr2:36630226-36630227	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

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
Breast cancer	21785460	CNVD
Lung cancer	18438408	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
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:36604400-36640400	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr2:36604400-36640600	Weak transcription	Brain Cingulate Gyrus	brain
3	chr2:36611600-36632400	Weak transcription	Esophagus	oesophagus
4	chr2:36611600-36635400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr2:36616800-36631200	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr2:36616800-36635000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr2:36617000-36633400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr2:36617200-36630800	Weak transcription	Rectal Smooth Muscle	rectum
9	chr2:36617200-36631200	Weak transcription	Fetal Kidney	kidney
10	chr2:36617200-36633800	Weak transcription	Fetal Lung	lung
11	chr2:36617800-36630600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr2:36617800-36630600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr2:36618600-36643000	Genic enhancers	Osteobl	bone
14	chr2:36620200-36635000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr2:36621000-36630600	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr2:36621000-36631400	Weak transcription	Fetal Brain Female	brain
17	chr2:36621000-36635000	Weak transcription	Stomach Smooth Muscle	stomach
18	chr2:36621000-36635200	Weak transcription	Lung	lung
19	chr2:36621200-36630800	Weak transcription	Spleen	Spleen
20	chr2:36621200-36634800	Weak transcription	Brain Hippocampus Middle	brain
21	chr2:36621200-36634800	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr2:36621200-36635000	Weak transcription	Fetal Stomach	stomach
23	chr2:36622600-36630600	Genic enhancers	HUVEC	blood vessel
24	chr2:36622800-36630600	Weak transcription	Colon Smooth Muscle	Colon
25	chr2:36622800-36631400	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr2:36623000-36632200	Weak transcription	Right Atrium	heart
27	chr2:36623600-36630800	Genic enhancers	NHLF	lung
28	chr2:36624000-36631400	Enhancers	Psoas Muscle	Psoas
29	chr2:36624200-36635000	Weak transcription	Brain Angular Gyrus	brain
30	chr2:36624400-36630800	Weak transcription	Small Intestine	intestine
31	chr2:36624600-36630400	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr2:36624600-36630800	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr2:36624600-36634600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr2:36624800-36643600	Weak transcription	Colonic Mucosa	Colon
35	chr2:36625200-36635000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr2:36625400-36630800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr2:36625600-36630200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr2:36625600-36635600	Weak transcription	Fetal Intestine Large	intestine
39	chr2:36625600-36643800	Weak transcription	Fetal Intestine Small	intestine
40	chr2:36625800-36642200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr2:36626000-36643800	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr2:36626400-36631000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
43	chr2:36626400-36632400	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr2:36626600-36630600	Weak transcription	Right Ventricle	heart
45	chr2:36626600-36630800	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr2:36626600-36631200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr2:36626600-36632400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr2:36626600-36637800	Weak transcription	Duodenum Mucosa	Duodenum
49	chr2:36626800-36630000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
50	chr2:36626800-36630200	Weak transcription	HSMMtube	muscle

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