Variant report

Variant	esv3323407
Chromosome Location	chr2:116374771-116402494
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 524 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:524 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534838105	chr2:116381042-116381043	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs554418504	chr2:116381051-116381052	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs559208932	chr2:116381104-116381105	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs574790882	chr2:116381109-116381110	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs543734465	chr2:116381116-116381117	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs575878486	chr2:116381172-116381173	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs563323170	chr2:116381182-116381183	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs576887404	chr2:116381190-116381191	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs142152866	chr2:116381191-116381192	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs559416013	chr2:116381289-116381290	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs576282433	chr2:116381310-116381311	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs538540940	chr2:116381343-116381344	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs554924809	chr2:116381369-116381370	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs560826458	chr2:116381417-116381418	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs574817667	chr2:116381445-116381446	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs368166884	chr2:116381452-116381453	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs180720380	chr2:116381496-116381497	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs185501060	chr2:116381528-116381529	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs116741558	chr2:116381562-116381563	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs550039352	chr2:116381605-116381606	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs4508605	chr2:116381638-116381639	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs538662966	chr2:116381653-116381654	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs552259023	chr2:116381665-116381666	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs189381820	chr2:116381687-116381688	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs138371675	chr2:116381691-116381692	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs534764772	chr2:116381769-116381770	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs151228678	chr2:116381795-116381796	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs146380279	chr2:116381827-116381828	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs4516432	chr2:116381897-116381898	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs537375007	chr2:116381966-116381967	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs571014269	chr2:116382024-116382025	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs371051798	chr2:116382043-116382044	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs557279713	chr2:116382050-116382051	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs577176925	chr2:116382143-116382144	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs372268456	chr2:116382161-116382162	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs138502982	chr2:116382165-116382166	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs142343746	chr2:116382199-116382200	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs545860823	chr2:116382336-116382337	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs552647624	chr2:116382506-116382507	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs572904989	chr2:116382529-116382530	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs541556739	chr2:116382530-116382531	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs561173996	chr2:116382588-116382589	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs74678901	chr2:116382596-116382597	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs142298332	chr2:116391006-116391007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs146813224	chr2:116391011-116391012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs538241774	chr2:116391014-116391015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs557825937	chr2:116391027-116391028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs181110037	chr2:116391062-116391063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs534023752	chr2:116391063-116391064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs553580899	chr2:116391070-116391071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
lymphocytic leukemia	21291569	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	20729466	CNVD
Myelofibrosis	22110671	CNVD
Neuroticism	17667963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Mental retardation	17621639	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Medulloblastoma	21163964	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:116381000-116382000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr2:116381200-116381400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr2:116381200-116382400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr2:116381200-116382600	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr2:116382000-116382200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr2:116391000-116395200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr2:116392000-116393200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr2:116392000-116397600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr2:116392200-116392600	Active TSS	Duodenum Mucosa	Duodenum
10	chr2:116392200-116393200	Enhancers	Pancreas	Pancrea
11	chr2:116392200-116394600	Enhancers	Fetal Intestine Large	intestine
12	chr2:116392400-116393400	Enhancers	Stomach Mucosa	stomach
13	chr2:116392400-116393800	Enhancers	Fetal Intestine Small	intestine
14	chr2:116392600-116393000	Flanking Active TSS	Duodenum Mucosa	Duodenum
15	chr2:116392600-116393000	Enhancers	Gastric	stomach
16	chr2:116393000-116393200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr2:116393000-116393200	Active TSS	Duodenum Mucosa	Duodenum
18	chr2:116393200-116393800	Enhancers	Duodenum Mucosa	Duodenum
19	chr2:116393200-116397600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr2:116393400-116393800	Weak transcription	Stomach Mucosa	stomach
21	chr2:116393800-116394400	Weak transcription	Fetal Intestine Small	intestine
22	chr2:116393800-116394600	Enhancers	Stomach Mucosa	stomach
23	chr2:116393800-116399400	Weak transcription	Duodenum Mucosa	Duodenum
24	chr2:116394400-116394600	Enhancers	Fetal Intestine Small	intestine
25	chr2:116394600-116397600	Weak transcription	Fetal Intestine Large	intestine
26	chr2:116394600-116399400	Weak transcription	Fetal Intestine Small	intestine
27	chr2:116395200-116398000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr2:116395800-116396400	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr2:116396200-116396400	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr2:116396400-116398800	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr2:116397400-116399200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr2:116397600-116398000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr2:116397600-116398000	Enhancers	Fetal Intestine Large	intestine
34	chr2:116397600-116399600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr2:116398800-116399000	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr2:116399000-116399800	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr2:116399200-116400200	Enhancers	Fetal Brain Male	brain
38	chr2:116399400-116399600	Enhancers	Duodenum Mucosa	Duodenum
39	chr2:116399400-116400000	Enhancers	Fetal Intestine Small	intestine
40	chr2:116399600-116402400	Weak transcription	Duodenum Mucosa	Duodenum
41	chr2:116399800-116400200	Enhancers	HUES48 Cell Line	embryonic stem cell
42	chr2:116400200-116408200	Weak transcription	HUES48 Cell Line	embryonic stem cell

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