Variant report

Variant	esv3345821
Chromosome Location	chr2:187663495-187692736
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 834 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:834 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs34024393	chr2:187666613-187666614	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs370832258	chr2:187666641-187666642	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs578209524	chr2:187666657-187666658	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs545669464	chr2:187666725-187666726	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs554663406	chr2:187666747-187666748	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs560157981	chr2:187666748-187666749	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs139564046	chr2:187666810-187666811	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs554797474	chr2:187666812-187666813	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs570026481	chr2:187666890-187666891	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs542567346	chr2:187666905-187666906	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs181378704	chr2:187666950-187666951	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs573378847	chr2:187666979-187666980	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs531798698	chr2:187666997-187666998	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs184159105	chr2:187667059-187667060	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs534247200	chr2:187667144-187667145	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs569011202	chr2:187667165-187667166	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs559212710	chr2:187667253-187667254	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs149728121	chr2:187667266-187667267	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs147896810	chr2:187667283-187667284	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs200432688	chr2:187667319-187667320	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs566517884	chr2:187667343-187667344	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs533770326	chr2:187667345-187667346	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs559358826	chr2:187667361-187667362	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs555359345	chr2:187667366-187667367	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs6757984	chr2:187667371-187667372	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs141619293	chr2:187667380-187667381	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs374224684	chr2:187667382-187667383	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs562234360	chr2:187667394-187667395	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs564518418	chr2:187669200-187669201	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs76099378	chr2:187669205-187669206	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs190046701	chr2:187669207-187669208	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs80166025	chr2:187669209-187669210	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs145280667	chr2:187669241-187669242	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs559124520	chr2:187669252-187669253	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs372866689	chr2:187669323-187669324	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs565979432	chr2:187669346-187669347	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs182593526	chr2:187669355-187669356	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs187517136	chr2:187669393-187669394	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs570341428	chr2:187669398-187669399	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs537316319	chr2:187669453-187669454	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs558937166	chr2:187669525-187669526	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs67298161	chr2:187669538-187669539	Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs115586070	chr2:187669575-187669576	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs566046779	chr2:187669606-187669607	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs553509964	chr2:187669661-187669662	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs530066743	chr2:187669669-187669670	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs542823856	chr2:187669709-187669710	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs554440863	chr2:187669755-187669756	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs576314577	chr2:187669815-187669816	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs112778577	chr2:187669840-187669841	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:49)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Ewing''s sarcoma	17952124	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
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Glioblastoma	21080181	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Facial dysmorphism	20548289	CNVD
Mental retardation	20548289	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Sudden cardiac death	19188705	CNVD
Autism	19329560	CNVD
Urothelial carcinoma	21177765	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:187666600-187667400	Enhancers	Colon Smooth Muscle	Colon
2	chr2:187669200-187669400	Enhancers	Fetal Heart	heart
3	chr2:187669400-187669600	Flanking Active TSS	Fetal Heart	heart
4	chr2:187669600-187669800	Enhancers	Fetal Heart	heart
5	chr2:187669800-187670000	Flanking Active TSS	Fetal Heart	heart
6	chr2:187669800-187670600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:187670000-187672200	Enhancers	Fetal Heart	heart
8	chr2:187670200-187671000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr2:187670400-187670600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr2:187671600-187672000	Enhancers	NHDF-Ad	bronchial
11	chr2:187672200-187672600	Enhancers	Placenta	Placenta
12	chr2:187674200-187674400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr2:187674200-187674800	Enhancers	H9 Cell Line	embryonic stem cell
14	chr2:187674400-187674800	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr2:187674400-187675000	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr2:187674400-187675000	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr2:187674400-187675200	Enhancers	HUVEC	blood vessel
18	chr2:187674400-187685400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr2:187674600-187675200	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr2:187682600-187684200	Weak transcription	Osteobl	bone
21	chr2:187684200-187685200	Active TSS	Osteobl	bone
22	chr2:187685000-187686400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr2:187685200-187685600	Enhancers	Osteobl	bone
24	chr2:187685400-187686400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr2:187685600-187685800	Weak transcription	Osteobl	bone
26	chr2:187686400-187699000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr2:187691600-187692400	Enhancers	Muscle Satellite Cultured Cells	--
28	chr2:187691600-187693200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr2:187692000-187693000	Enhancers	NH-A	brain
30	chr2:187692000-187693200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr2:187692000-187693200	Enhancers	HSMM	muscle
32	chr2:187692000-187693200	Enhancers	Osteobl	bone
33	chr2:187692400-187692600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
34	chr2:187692600-187692800	Enhancers	Muscle Satellite Cultured Cells	--

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