Variant report

Variant	nsv1054577
Chromosome Location	chr12:30391221-30409749
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:30394846..30396422-chr12:30402248..30404623,2	K562	blood:
2	chr12:30388256..30390909-chr12:30391939..30394799,2	K562	blood:
3	chr12:30394846..30396422-chr12:30402248..30404623,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-IPO8-1	chr12:30397268-30397338	ENSG00000257756

Extended variants
information (count: 326 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:326 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs144587348	chr12:30394062-30394063	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs16905908	chr12:30394083-30394084	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs545524471	chr12:30394088-30394089	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs2163112	chr12:30394157-30394158	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs546567499	chr12:30394302-30394303	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs148041780	chr12:30394325-30394326	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs529001854	chr12:30394327-30394328	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs190305117	chr12:30394336-30394337	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs570295918	chr12:30394373-30394374	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs114371169	chr12:30394409-30394410	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs1465601	chr12:30394419-30394420	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs571114175	chr12:30394420-30394421	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs1465600	chr12:30394432-30394433	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs553333318	chr12:30394466-30394467	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs34950292	chr12:30394479-30394480	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs398098103	chr12:30394485-30394486	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs199780310	chr12:30394486-30394487	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs181185995	chr12:30394506-30394507	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs535567300	chr12:30394528-30394529	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs561412768	chr12:30394540-30394541	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs74083212	chr12:30394567-30394568	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs537923378	chr12:30397277-30397278	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
23	rs2564581	chr12:30397287-30397288	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs377162937	chr12:30397288-30397289	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
25	rs146753240	chr12:30404213-30404214	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs73280285	chr12:30404235-30404236	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs184085325	chr12:30404238-30404239	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs558537866	chr12:30404244-30404245	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs188087662	chr12:30404284-30404285	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs2054769	chr12:30404286-30404287	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs570476321	chr12:30404313-30404314	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs534825204	chr12:30404334-30404335	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs73280289	chr12:30404337-30404338	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs567829337	chr12:30404357-30404358	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs4931303	chr12:30404368-30404369	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs73280293	chr12:30404379-30404380	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs575452509	chr12:30404400-30404401	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs181045758	chr12:30404409-30404410	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs557803926	chr12:30404412-30404413	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs559064756	chr12:30404425-30404426	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs16905931	chr12:30404435-30404436	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs540359508	chr12:30404449-30404450	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs561628780	chr12:30404461-30404462	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs530361737	chr12:30404465-30404466	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs1825527	chr12:30404487-30404488	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs74468737	chr12:30404488-30404489	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs563875500	chr12:30404492-30404493	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs531124293	chr12:30404503-30404504	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs1366937	chr12:30404509-30404510	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs564166132	chr12:30404538-30404539	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

Disease	PMID	Source
Melanoma	18172304	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Myxofibrosarcoma	16751306	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Acute myeloid leukemia	16864856	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Testicular cancer	18059402	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Seminomas	18059402	CNVD
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Testicular germ cell tumor	18059402	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21858162	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Myelodysplastic syndrome	21251322	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Acute myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	21509527	CNVD
Follicular lymphoma	18703704	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Breast cancer	17133270	CNVD
Cancer	21129771	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17899364	CNVD
Myelofibrosis	22110671	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:30394000-30394600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr12:30404200-30404600	Enhancers	H1 Cell Line	embryonic stem cell
3	chr12:30404200-30404800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr12:30404200-30405200	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr12:30404200-30405200	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr12:30404400-30404800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr12:30404400-30404800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr12:30404400-30404800	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr12:30404600-30405200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr12:30404800-30410200	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr12:30405200-30410200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr12:30405800-30408000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr12:30406200-30406400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr12:30406400-30410400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr12:30409000-30409200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr12:30409200-30416400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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