Variant report

Variant	esv3515999
Chromosome Location	chr2:188528495-188551082
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:188549053..188550995-chr2:188552944..188555111,2	K562	blood:
2	chr2:188544173..188545945-chr2:188547538..188549082,2	K562	blood:
3	chr2:188544173..188545945-chr2:188547538..188549082,2	K562	blood:

Extended variants
information (count: 998 )
Associated
traits (count: 50 )

Variant overlapped rSNPs/rCNVs (count:998 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs184943712	chr2:188528513-188528514	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs542159942	chr2:188528563-188528564	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs549583554	chr2:188528574-188528575	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs571395059	chr2:188528588-188528589	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs188882286	chr2:188528602-188528603	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs554493268	chr2:188528638-188528639	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs11886573	chr2:188528685-188528686	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs192333363	chr2:188528785-188528786	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs572536102	chr2:188528803-188528804	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs546018637	chr2:188528872-188528873	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs368078654	chr2:188528923-188528924	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs184139125	chr2:188529014-188529015	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs144797356	chr2:188529143-188529144	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs77914279	chr2:188529163-188529164	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs558907262	chr2:188529272-188529273	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs577345909	chr2:188529289-188529290	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs189728111	chr2:188529310-188529311	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs1554417	chr2:188529328-188529329	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs7423789	chr2:188529363-188529364	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs530081118	chr2:188529423-188529424	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs140764205	chr2:188529438-188529439	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs150126012	chr2:188529465-188529466	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs181481889	chr2:188529467-188529468	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs138375822	chr2:188529482-188529483	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs571389704	chr2:188529522-188529523	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs73036703	chr2:188529525-188529526	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs532094543	chr2:188529533-188529534	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs547223822	chr2:188529544-188529545	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs199815679	chr2:188529609-188529610	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs5837047	chr2:188529610-188529611	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs185819167	chr2:188529611-188529612	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs562348804	chr2:188529619-188529620	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs78378238	chr2:188529621-188529622	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs189499550	chr2:188529635-188529636	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs529742487	chr2:188529740-188529741	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs181732371	chr2:188529746-188529747	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs533396936	chr2:188529773-188529774	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs551553791	chr2:188529834-188529835	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs537768511	chr2:188530055-188530056	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs386653578	chr2:188530060-188530061	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs10185937	chr2:188530061-188530062	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs541609139	chr2:188530062-188530063	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs553242110	chr2:188530097-188530098	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs115017669	chr2:188530114-188530115	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs541895922	chr2:188530180-188530181	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs563372948	chr2:188530187-188530188	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs145245099	chr2:188530206-188530207	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs75959156	chr2:188530209-188530210	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs565748628	chr2:188530215-188530216	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs565183752	chr2:188530218-188530219	Weak transcription Strong 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
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
Intellectual disability	22102821	CNVD
Tetralogy of Fallot	22912587	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:156 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:188519800-188534800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr2:188524200-188535000	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr2:188525800-188528600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr2:188526400-188528600	Strong transcription	iPS-15b Cell Line	embryonic stem cell
5	chr2:188526400-188532600	Strong transcription	HUES48 Cell Line	embryonic stem cell
6	chr2:188527000-188533000	Strong transcription	HUES6 Cell Line	embryonic stem cell
7	chr2:188527200-188535200	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr2:188527200-188535200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr2:188527800-188529200	Strong transcription	ES-I3 Cell Line	embryonic stem cell
10	chr2:188528200-188528600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
11	chr2:188528200-188532600	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr2:188528200-188535000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr2:188528200-188535200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr2:188528600-188531400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr2:188528600-188531400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr2:188528600-188534000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr2:188529200-188531400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr2:188531400-188531800	Genic enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr2:188531400-188532000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
20	chr2:188531400-188532600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
21	chr2:188531800-188532400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr2:188532000-188532600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr2:188532400-188532600	Active TSS	iPS-15b Cell Line	embryonic stem cell
24	chr2:188532600-188533000	Genic enhancers	HUES48 Cell Line	embryonic stem cell
25	chr2:188532600-188533000	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
26	chr2:188532600-188533600	Genic enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr2:188532600-188533600	Genic enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr2:188532600-188534200	Strong transcription	H9 Cell Line	embryonic stem cell
29	chr2:188533000-188533200	Genic enhancers	HUES6 Cell Line	embryonic stem cell
30	chr2:188533000-188534200	Strong transcription	HUES48 Cell Line	embryonic stem cell
31	chr2:188533000-188534400	Transcr. at gene 5' and 3'	iPS-15b Cell Line	embryonic stem cell
32	chr2:188533200-188534200	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
33	chr2:188533600-188534000	Transcr. at gene 5' and 3'	ES-I3 Cell Line	embryonic stem cell
34	chr2:188533600-188534000	Transcr. at gene 5' and 3'	iPS-18 Cell Line	embryonic stem cell
35	chr2:188534000-188534200	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
36	chr2:188534000-188534200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
37	chr2:188534000-188534200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr2:188534200-188534400	Active TSS	ES-I3 Cell Line	embryonic stem cell
39	chr2:188534200-188534400	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr2:188534200-188535000	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr2:188534200-188535000	Strong transcription	HUES6 Cell Line	embryonic stem cell
42	chr2:188534200-188535000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr2:188534200-188535200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr2:188534400-188534600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
45	chr2:188534400-188535000	Active TSS	iPS-15b Cell Line	embryonic stem cell
46	chr2:188534400-188541000	Active TSS	H9 Cell Line	embryonic stem cell
47	chr2:188534600-188541200	Active TSS	ES-I3 Cell Line	embryonic stem cell
48	chr2:188534800-188535200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
49	chr2:188535000-188535200	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
50	chr2:188535000-188535200	Active TSS	iPS-18 Cell Line	embryonic stem cell

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