Variant report

Variant	esv2044427
Chromosome Location	chr2:36659943-36659944
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:36581891..36584945-chr2:36659676..36663580,4	MCF-7	breast:
2	chr2:36659185..36660941-chr2:36665845..36668463,2	MCF-7	breast:
3	chr2:36605517..36607622-chr2:36658577..36660490,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000260025	chromatin interactions
ENSG00000150938	chromatin interactions

Extended variants
information (count: 2 )
Associated
traits (count: 60 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs848499	chr2:36659943-36659944	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs5830426	chr2:36659944-36659945	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	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
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:36640200-36680000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr2:36644200-36660000	Weak transcription	Fetal Brain Female	brain
3	chr2:36644400-36665600	Weak transcription	Gastric	stomach
4	chr2:36648000-36660200	Weak transcription	Pancreas	Pancrea
5	chr2:36648200-36660200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr2:36648200-36660400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr2:36649600-36662200	Enhancers	Skeletal Muscle Female	skeletal muscle
8	chr2:36650600-36676600	Weak transcription	Stomach Mucosa	stomach
9	chr2:36651600-36668400	Weak transcription	Fetal Intestine Small	intestine
10	chr2:36651600-36668400	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr2:36651800-36660200	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr2:36651800-36668400	Weak transcription	Duodenum Mucosa	Duodenum
13	chr2:36651800-36686800	Weak transcription	Colonic Mucosa	Colon
14	chr2:36652200-36668600	Weak transcription	Primary B cells from cord blood	blood
15	chr2:36652400-36660200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr2:36652400-36660200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr2:36653000-36667800	Weak transcription	Primary hematopoietic stem cells	blood
18	chr2:36653400-36669400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr2:36654600-36660200	Genic enhancers	Muscle Satellite Cultured Cells	--
20	chr2:36654800-36660800	Enhancers	Ovary	ovary
21	chr2:36655200-36660400	Weak transcription	Fetal Muscle Trunk	muscle
22	chr2:36655400-36662600	Enhancers	Skeletal Muscle Male	skeletal muscle
23	chr2:36656800-36660200	Enhancers	Adipose Nuclei	Adipose
24	chr2:36656800-36660200	Weak transcription	HSMMtube	muscle
25	chr2:36656800-36661000	Enhancers	Fetal Stomach	stomach
26	chr2:36657000-36660400	Weak transcription	Hela-S3	cervix
27	chr2:36657000-36665600	Genic enhancers	A549	lung
28	chr2:36657200-36660000	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr2:36657200-36660200	Enhancers	Rectal Smooth Muscle	rectum
30	chr2:36657200-36660400	Enhancers	Colon Smooth Muscle	Colon
31	chr2:36657600-36661200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
32	chr2:36657600-36661600	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr2:36657800-36660000	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr2:36657800-36660200	Weak transcription	Liver	Liver
35	chr2:36658000-36660000	Weak transcription	Brain Hippocampus Middle	brain
36	chr2:36658000-36660200	Weak transcription	Right Atrium	heart
37	chr2:36658000-36660400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr2:36658000-36668400	Weak transcription	Esophagus	oesophagus
39	chr2:36658200-36660000	Weak transcription	Brain Anterior Caudate	brain
40	chr2:36658200-36660200	Enhancers	Stomach Smooth Muscle	stomach
41	chr2:36658200-36660800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr2:36658200-36661000	Enhancers	Fetal Kidney	kidney
43	chr2:36658400-36660000	Weak transcription	Right Ventricle	heart
44	chr2:36658400-36660200	Enhancers	Osteobl	bone
45	chr2:36658400-36665400	Enhancers	NHDF-Ad	bronchial
46	chr2:36658600-36660200	Enhancers	NHEK	skin
47	chr2:36658600-36660800	Enhancers	Fetal Muscle Leg	muscle
48	chr2:36658600-36661400	Enhancers	Fetal Lung	lung
49	chr2:36658800-36660200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr2:36658800-36660800	Enhancers	HUES64 Cell Line	embryonic stem cell

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