Variant report

Variant	esv3371796
Chromosome Location	chr2:183491057-183492805
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:183492322..183494288-chr2:183495772..183497912,2	K562	blood:
2	chr2:183484463..183486734-chr2:183489147..183491693,3	K562	blood:

Extended variants
information (count: 127 )
Associated
traits (count: 50 )

Variant overlapped rSNPs/rCNVs (count:127 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs527408851	chr2:183491065-183491066	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs544461347	chr2:183491125-183491126	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs561413747	chr2:183491181-183491182	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs575124198	chr2:183491182-183491183	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs534488885	chr2:183491189-183491190	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs143869074	chr2:183491208-183491209	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs560568732	chr2:183491260-183491261	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs532618441	chr2:183491262-183491263	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs552727726	chr2:183491274-183491275	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs562628356	chr2:183491305-183491306	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs567831405	chr2:183491376-183491377	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs536757113	chr2:183491400-183491401	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs556652806	chr2:183491410-183491411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs34941601	chr2:183491414-183491415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs34783685	chr2:183491433-183491434	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs199851088	chr2:183491444-183491445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs545441301	chr2:183491465-183491466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs370919377	chr2:183491466-183491467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs558896485	chr2:183491471-183491472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs57603638	chr2:183491473-183491474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs553775252	chr2:183491475-183491476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs371722213	chr2:183491485-183491486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs60027487	chr2:183491487-183491488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs374778825	chr2:183491489-183491490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs576601396	chr2:183491496-183491497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs61482887	chr2:183491499-183491500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs56070366	chr2:183491503-183491504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs183785552	chr2:183491507-183491508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs373080351	chr2:183491508-183491509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs57465254	chr2:183491509-183491510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs56272024	chr2:183491515-183491516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs61508463	chr2:183491519-183491520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs56673875	chr2:183491527-183491528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs201905133	chr2:183491528-183491529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs58773217	chr2:183491529-183491530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs188474629	chr2:183491539-183491540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs548663370	chr2:183491551-183491552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs200065511	chr2:183491552-183491553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs192160205	chr2:183491563-183491564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs201072922	chr2:183491574-183491575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs372241977	chr2:183491575-183491576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs375565675	chr2:183491577-183491578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs183924759	chr2:183491597-183491598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs187692508	chr2:183491598-183491599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs191608904	chr2:183491673-183491674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs573817074	chr2:183491695-183491696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs376890994	chr2:183491727-183491728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs371067432	chr2:183491730-183491731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs369750552	chr2:183491734-183491735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs373244335	chr2:183491735-183491736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:50)

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
Autism	18522746	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
low-grade B-cell lymphoma tumor	18367492	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
Non-syndromic sensorineural hearing loss	17122850	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:183459600-183493800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:183486000-183495800	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr2:183486200-183495600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr2:183487000-183493600	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr2:183490000-183491400	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr2:183490000-183491400	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr2:183490200-183491400	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr2:183490400-183491200	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr2:183490600-183491200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
10	chr2:183490600-183493600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr2:183490800-183491400	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr2:183491000-183493600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr2:183491000-183496200	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr2:183491000-183501200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr2:183491200-183495800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr2:183491200-183495800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr2:183491400-183493400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr2:183491400-183493400	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr2:183491400-183495000	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr2:183491400-183495800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr2:183491400-183496200	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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