Variant report

Variant	esv3333378
Chromosome Location	chr2:39960230-39960349
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs35600343	chr2:39960253-39960254	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs540826173	chr2:39960263-39960264	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs559164927	chr2:39960280-39960281	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs188972379	chr2:39960285-39960286	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs531241600	chr2:39960327-39960328	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs192698886	chr2:39960331-39960332	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs183656909	chr2:39960332-39960333	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs72936076	chr2:39960339-39960340	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs564876263	chr2:39960348-39960349	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

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
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	22495311	CNVD
Autism	19521722	CNVD
Autism	18522746	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	21364760	CNVD
Colorectal cancer	16272173	CNVD

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:39942000-39963000	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr2:39944400-39976600	Weak transcription	Fetal Brain Male	brain
3	chr2:39948200-39961200	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr2:39949000-39960400	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr2:39951000-39963600	Weak transcription	Pancreas	Pancrea
6	chr2:39951000-39964800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr2:39951200-39964800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:39951400-39961400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr2:39951400-39961800	Weak transcription	Colon Smooth Muscle	Colon
10	chr2:39951400-39962000	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr2:39951400-39963800	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr2:39952000-39964800	Weak transcription	Rectal Smooth Muscle	rectum
13	chr2:39952400-39962400	Weak transcription	Spleen	Spleen
14	chr2:39952600-39962600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr2:39952800-39962400	Weak transcription	Fetal Kidney	kidney
16	chr2:39952800-39962600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr2:39953200-39962400	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr2:39955800-39960400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr2:39956000-39962800	Weak transcription	HUVEC	blood vessel
20	chr2:39956200-39960400	Weak transcription	GM12878-XiMat	blood
21	chr2:39956200-39962200	Weak transcription	Adipose Nuclei	Adipose
22	chr2:39956200-39966400	Weak transcription	Small Intestine	intestine
23	chr2:39956400-39962600	Weak transcription	Placenta	Placenta
24	chr2:39956600-39960400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr2:39956600-39962000	Weak transcription	Primary B cells from peripheral blood	blood
26	chr2:39956600-39962000	Weak transcription	NH-A	brain
27	chr2:39956600-39962800	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr2:39956600-39963400	Weak transcription	Ovary	ovary
29	chr2:39956800-39964600	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr2:39957200-39960800	Genic enhancers	HSMMtube	muscle
31	chr2:39957400-39971200	Strong transcription	Primary T cells from cord blood	blood
32	chr2:39957600-39960600	Strong transcription	Fetal Brain Female	brain
33	chr2:39957600-39960800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr2:39957600-39960800	Strong transcription	Fetal Stomach	stomach
35	chr2:39957600-39963200	Strong transcription	Fetal Lung	lung
36	chr2:39957600-39964200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr2:39957800-39960400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr2:39957800-39960600	Strong transcription	Stomach Smooth Muscle	stomach
39	chr2:39957800-39962400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr2:39958000-39961200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr2:39958400-39963800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
42	chr2:39958600-39960600	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr2:39958600-39962600	Weak transcription	Hela-S3	cervix
44	chr2:39958800-39960600	Enhancers	Psoas Muscle	Psoas
45	chr2:39958800-39960800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr2:39958800-39962000	Weak transcription	Primary T cells fromperipheralblood	blood
47	chr2:39958800-39962600	Weak transcription	Primary T helper cells PMA-I stimulated	--
48	chr2:39958800-39962600	Genic enhancers	Osteobl	bone
49	chr2:39958800-39964400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr2:39958800-39964600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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