Variant report

Variant	esv3401139
Chromosome Location	chr2:114793129-114817730
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 642 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:642 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs188036	chr2:114793151-114793152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs549583460	chr2:114793179-114793180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs563119270	chr2:114793200-114793201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs150143997	chr2:114793222-114793223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs371069785	chr2:114793235-114793236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs183160408	chr2:114793245-114793246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs565922483	chr2:114793267-114793268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs187888714	chr2:114793527-114793528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs533943412	chr2:114793538-114793539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs563188628	chr2:114793539-114793540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs567668798	chr2:114793550-114793551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs536728556	chr2:114793554-114793555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs192306851	chr2:114793586-114793587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs184267922	chr2:114793606-114793607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs539381493	chr2:114793623-114793624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs529007361	chr2:114793627-114793628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs558999496	chr2:114793646-114793647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs572655987	chr2:114793656-114793657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs187628003	chr2:114793661-114793662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs113141792	chr2:114793667-114793668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs370136360	chr2:114793722-114793723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs545738149	chr2:114793726-114793727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs192846470	chr2:114793742-114793743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs566299610	chr2:114793775-114793776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs563956057	chr2:114793818-114793819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs142893133	chr2:114793868-114793869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs532182765	chr2:114793873-114793874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs147021199	chr2:114793888-114793889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs559409223	chr2:114793923-114793924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs528351665	chr2:114793951-114793952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs547506958	chr2:114794002-114794003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs376453684	chr2:114794049-114794050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs528759759	chr2:114794056-114794057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs530266118	chr2:114794073-114794074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs139021187	chr2:114794109-114794110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs551706242	chr2:114794110-114794111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs72956228	chr2:114794138-114794139	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs143030647	chr2:114794173-114794174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs559082133	chr2:114794269-114794270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs566261048	chr2:114794279-114794280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs535313068	chr2:114794280-114794281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs554314129	chr2:114794305-114794306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs574083858	chr2:114794310-114794311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs542970660	chr2:114794346-114794347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs199826597	chr2:114794359-114794360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs371286569	chr2:114794390-114794391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs144718756	chr2:114794402-114794403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs184266499	chr2:114794437-114794438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs545694525	chr2:114794439-114794440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs188998934	chr2:114794509-114794510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:52)

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
Chronic lymphocytic leukemia	21546498	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
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:114790800-114798400	Weak transcription	Fetal Brain Male	brain
2	chr2:114797200-114799400	Enhancers	Fetal Brain Female	brain
3	chr2:114798400-114798800	Enhancers	Pancreas	Pancrea
4	chr2:114798400-114799200	Enhancers	Fetal Brain Male	brain
5	chr2:114799200-114804000	Weak transcription	Fetal Brain Male	brain
6	chr2:114804000-114805600	Enhancers	Fetal Brain Male	brain
7	chr2:114806400-114808000	Enhancers	HMEC	breast
8	chr2:114806400-114808200	Enhancers	NHEK	skin
9	chr2:114806800-114807800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr2:114806800-114808000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr2:114813600-114814200	Enhancers	GM12878-XiMat	blood
12	chr2:114813800-114814000	Enhancers	Rectal Mucosa Donor 29	rectum
13	chr2:114813800-114815200	Enhancers	Rectal Mucosa Donor 31	rectum
14	chr2:114814000-114814200	Enhancers	Sigmoid Colon	Sigmoid Colon
15	chr2:114814200-114815200	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr2:114815200-114815600	Active TSS	Rectal Mucosa Donor 31	rectum
17	chr2:114815200-114816000	Active TSS	Rectal Mucosa Donor 29	rectum
18	chr2:114815200-114816000	Enhancers	Sigmoid Colon	Sigmoid Colon
19	chr2:114815600-114816000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum

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