Variant report

Variant	esv3441349
Chromosome Location	chr2:36732339-36733037
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	chr2:36730697..36732270-chr2:36732396..36733939,2	MCF-7	breast:
2	chr2:36730615..36732840-chr2:36733179..36736137,2	MCF-7	breast:

Extended variants
information (count: 17 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs567109414	chr2:36732353-36732354	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs148449543	chr2:36732360-36732361	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs546679050	chr2:36732388-36732389	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs142633225	chr2:36732415-36732416	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs538229419	chr2:36732447-36732448	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs848528	chr2:36732494-36732495	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs575436054	chr2:36732528-36732529	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs536189511	chr2:36732535-36732536	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs112039330	chr2:36732584-36732585	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs186288700	chr2:36732609-36732610	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs372047087	chr2:36732671-36732672	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs540045239	chr2:36732748-36732749	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs542624867	chr2:36732786-36732787	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs565001989	chr2:36732789-36732790	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs577286886	chr2:36732827-36732828	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs192383587	chr2:36732838-36732839	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs562934580	chr2:36733037-36733038	Weak transcription Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

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
T-cell lymphomas	22341440	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:36704800-36736200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:36705000-36743200	Weak transcription	Brain Germinal Matrix	brain
3	chr2:36707000-36740600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:36708600-36739000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:36709200-36739000	Weak transcription	Colonic Mucosa	Colon
6	chr2:36710000-36743400	Weak transcription	Primary T cells from cord blood	blood
7	chr2:36711400-36739200	Weak transcription	Primary B cells from cord blood	blood
8	chr2:36713000-36733200	Weak transcription	Pancreas	Pancrea
9	chr2:36713600-36739200	Weak transcription	Fetal Muscle Leg	muscle
10	chr2:36713800-36733200	Weak transcription	Stomach Mucosa	stomach
11	chr2:36713800-36789600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr2:36717200-36733000	Genic enhancers	A549	lung
13	chr2:36717400-36744400	Weak transcription	Brain Angular Gyrus	brain
14	chr2:36720000-36734400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr2:36720000-36760600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr2:36720400-36739200	Weak transcription	Fetal Heart	heart
17	chr2:36720800-36739200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr2:36721400-36737200	Strong transcription	HSMM	muscle
19	chr2:36721800-36746000	Strong transcription	HUVEC	blood vessel
20	chr2:36722200-36734800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr2:36722400-36739800	Weak transcription	Brain Hippocampus Middle	brain
22	chr2:36722600-36752400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr2:36724000-36740600	Weak transcription	Psoas Muscle	Psoas
24	chr2:36725000-36734000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr2:36725200-36739200	Strong transcription	NH-A	brain
26	chr2:36725200-36756800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr2:36725400-36734800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr2:36725600-36734000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr2:36726000-36732400	Strong transcription	Fetal Intestine Large	intestine
30	chr2:36726200-36733800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr2:36726400-36732400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
32	chr2:36726400-36733800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr2:36726400-36734400	Strong transcription	Adipose Nuclei	Adipose
34	chr2:36726800-36751800	Strong transcription	Skeletal Muscle Female	skeletal muscle
35	chr2:36727000-36734600	Genic enhancers	HepG2	liver
36	chr2:36727000-36739200	Weak transcription	Colon Smooth Muscle	Colon
37	chr2:36727000-36739600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr2:36727200-36739200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr2:36727400-36733200	Weak transcription	Gastric	stomach
40	chr2:36727400-36738400	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr2:36727400-36757200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
42	chr2:36727600-36733000	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr2:36727600-36733000	Weak transcription	Lung	lung
44	chr2:36727600-36733000	Weak transcription	Spleen	Spleen
45	chr2:36727600-36737000	Weak transcription	Esophagus	oesophagus
46	chr2:36727600-36739200	Weak transcription	Fetal Brain Female	brain
47	chr2:36727600-36739200	Weak transcription	Fetal Kidney	kidney
48	chr2:36727600-36739400	Weak transcription	Brain Cingulate Gyrus	brain
49	chr2:36727600-36739400	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr2:36727600-36739400	Weak transcription	Sigmoid Colon	Sigmoid Colon

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