Variant report

Variant	esv3460799
Chromosome Location	chr2:36761503-36761798
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10167363	chr2:36761527-36761528	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs149949214	chr2:36761543-36761544	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs376848753	chr2:36761547-36761548	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs377354646	chr2:36761560-36761561	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs199698327	chr2:36761582-36761583	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs367800018	chr2:36761691-36761692	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs386644865	chr2:36761697-36761698	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs386644866	chr2:36761698-36761699	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs386644867	chr2:36761717-36761718	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs371326275	chr2:36761722-36761723	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs541127617	chr2:36761724-36761725	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs374841606	chr2:36761729-36761730	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs62136185	chr2:36761732-36761733	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs532963696	chr2:36761760-36761761	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs567572417	chr2:36761773-36761774	Weak transcription Strong transcription ZNF genes & repeats	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
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

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:36713800-36789600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr2:36729600-36790200	Weak transcription	Small Intestine	intestine
3	chr2:36733200-36774200	Weak transcription	Fetal Thymus	thymus
4	chr2:36733400-36764400	Weak transcription	Pancreas	Pancrea
5	chr2:36739000-36778200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr2:36744800-36764200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr2:36747800-36766200	Weak transcription	Thymus	Thymus
8	chr2:36747800-36768800	Weak transcription	Colonic Mucosa	Colon
9	chr2:36747800-36774200	Weak transcription	Liver	Liver
10	chr2:36748000-36764400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr2:36748000-36764400	Weak transcription	Rectal Smooth Muscle	rectum
12	chr2:36749600-36764200	Weak transcription	Brain Germinal Matrix	brain
13	chr2:36749600-36765000	Weak transcription	Fetal Brain Male	brain
14	chr2:36749600-36765200	Weak transcription	Right Ventricle	heart
15	chr2:36749800-36764200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr2:36749800-36764200	Weak transcription	Spleen	Spleen
17	chr2:36750000-36765200	Weak transcription	Gastric	stomach
18	chr2:36750800-36763200	Weak transcription	Fetal Muscle Leg	muscle
19	chr2:36750800-36764400	Weak transcription	Esophagus	oesophagus
20	chr2:36750800-36783200	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr2:36751000-36764200	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr2:36751000-36824200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr2:36751200-36774200	Weak transcription	Psoas Muscle	Psoas
24	chr2:36751400-36763600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr2:36751400-36764200	Weak transcription	Fetal Brain Female	brain
26	chr2:36751400-36764200	Weak transcription	Fetal Muscle Trunk	muscle
27	chr2:36751600-36764400	Weak transcription	Colon Smooth Muscle	Colon
28	chr2:36751600-36764400	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr2:36752000-36776000	Weak transcription	Primary T helper cells PMA-I stimulated	--
30	chr2:36752800-36766400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr2:36753000-36764200	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr2:36753800-36782600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
33	chr2:36754000-36764400	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr2:36754200-36764200	Weak transcription	Left Ventricle	heart
35	chr2:36756200-36763200	Weak transcription	Fetal Stomach	stomach
36	chr2:36756400-36767400	Weak transcription	Primary T cells from cord blood	blood
37	chr2:36756400-36769600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr2:36757600-36769200	Strong transcription	Placenta	Placenta
39	chr2:36757800-36764400	Strong transcription	A549	lung
40	chr2:36758000-36762800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr2:36758000-36764200	Weak transcription	Brain Cingulate Gyrus	brain
42	chr2:36758000-36778400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr2:36758200-36762400	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr2:36758200-36763200	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr2:36758200-36764400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr2:36758200-36764400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr2:36758200-36766200	Weak transcription	Right Atrium	heart
48	chr2:36758200-36768200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr2:36758200-36771000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr2:36758400-36762000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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