Variant report

Variant	esv3449638
Chromosome Location	chr2:114840782-114843780
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 93 )
Associated
traits (count: 50 )

Variant overlapped rSNPs/rCNVs (count:93 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs139059964	chr2:114840793-114840794	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs200231912	chr2:114840869-114840870	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs35634985	chr2:114840870-114840871	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs563223117	chr2:114840871-114840872	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs181091448	chr2:114840881-114840882	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs397985521	chr2:114840884-114840885	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs113992697	chr2:114840916-114840917	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs533993201	chr2:114840917-114840918	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs370756251	chr2:114840921-114840922	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs530571615	chr2:114840982-114840983	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs144960773	chr2:114840994-114840995	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs550757833	chr2:114841056-114841057	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs543328253	chr2:114841066-114841067	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs149077832	chr2:114841075-114841076	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs543921150	chr2:114841094-114841095	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs72956270	chr2:114841102-114841103	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs10864929	chr2:114841168-114841169	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs527393332	chr2:114841204-114841205	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs547141686	chr2:114841221-114841222	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs561156022	chr2:114841259-114841260	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs368730471	chr2:114841275-114841276	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs574211905	chr2:114841326-114841327	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs529826105	chr2:114841342-114841343	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs550080882	chr2:114841367-114841368	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs184092509	chr2:114841378-114841379	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs144423316	chr2:114841461-114841462	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs551804434	chr2:114841482-114841483	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs554337412	chr2:114841496-114841497	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs571630979	chr2:114841497-114841498	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs190204143	chr2:114841534-114841535	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs534318549	chr2:114841543-114841544	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs553947778	chr2:114841548-114841549	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs17706325	chr2:114841557-114841558	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs72837239	chr2:114841562-114841563	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs156706	chr2:114841673-114841674	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs13411647	chr2:114841700-114841701	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs545254914	chr2:114841716-114841717	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs181902941	chr2:114841719-114841720	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs141437820	chr2:114841738-114841739	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs541145957	chr2:114841781-114841782	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs560803303	chr2:114841782-114841783	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs111990464	chr2:114841803-114841804	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs147021563	chr2:114841811-114841812	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs549704793	chr2:114841837-114841838	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs563428079	chr2:114841853-114841854	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs55909031	chr2:114841890-114841891	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs111334174	chr2:114841898-114841899	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs201442102	chr2:114841902-114841903	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs55846207	chr2:114841916-114841917	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs532459540	chr2:114841917-114841918	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:50)

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

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:114840200-114840800	Enhancers	Brain Substantia Nigra	brain
2	chr2:114840400-114840800	Enhancers	Brain Angular Gyrus	brain
3	chr2:114840400-114840800	Enhancers	Brain Hippocampus Middle	brain
4	chr2:114840400-114840800	Enhancers	Gastric	stomach
5	chr2:114840400-114840800	Enhancers	Rectal Mucosa Donor 31	rectum
6	chr2:114840400-114840800	Flanking Active TSS	HepG2	liver
7	chr2:114840400-114841000	Enhancers	Pancreas	Pancrea
8	chr2:114840400-114841200	Enhancers	Fetal Intestine Large	intestine
9	chr2:114840400-114841200	Enhancers	Stomach Mucosa	stomach
10	chr2:114840400-114842000	Enhancers	Liver	Liver
11	chr2:114840600-114840800	Enhancers	Duodenum Mucosa	Duodenum
12	chr2:114840600-114840800	Enhancers	Sigmoid Colon	Sigmoid Colon
13	chr2:114840600-114841000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr2:114840600-114841200	Enhancers	Fetal Intestine Small	intestine
15	chr2:114840800-114841400	Enhancers	HepG2	liver
16	chr2:114841000-114841600	Weak transcription	Pancreas	Pancrea
17	chr2:114841400-114842800	Weak transcription	HepG2	liver
18	chr2:114841600-114841800	Enhancers	Pancreas	Pancrea
19	chr2:114842000-114842400	Weak transcription	Liver	Liver
20	chr2:114842400-114843400	Enhancers	Liver	Liver
21	chr2:114842800-114843000	Enhancers	HepG2	liver

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