Variant report

Variant	nsv1048944
Chromosome Location	chr12:30380541-30411087
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:30388256..30390909-chr12:30391939..30394799,2	K562	blood:
2	chr12:30394846..30396422-chr12:30402248..30404623,2	K562	blood:
3	chr12:30394846..30396422-chr12:30402248..30404623,2	K562	blood:
4	chr12:30388256..30390909-chr12:30391939..30394799,2	K562	blood:
5	chr12:30375754..30378220-chr12:30379404..30381460,2	K562	blood:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-IPO8-1	chr12:30385709-30385793	ENSG00000257756
2	lnc-IPO8-1	chr12:30383718-30383968	ENSG00000257756
3	lnc-IPO8-1	chr12:30397268-30397338	ENSG00000257756

No data

Extended variants
information (count: 511 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:511 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs141546145	chr12:30382258-30382259	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs567739312	chr12:30382275-30382276	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs75320343	chr12:30382399-30382400	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs547892445	chr12:30382433-30382434	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs10771668	chr12:30382443-30382444	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs192427760	chr12:30382503-30382504	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs544035699	chr12:30382614-30382615	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs535622317	chr12:30382649-30382650	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs183988746	chr12:30382653-30382654	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs530239784	chr12:30382661-30382662	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs548327430	chr12:30382665-30382666	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs188941442	chr12:30382672-30382673	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs541768314	chr12:30382701-30382702	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs193152916	chr12:30382715-30382716	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs146365156	chr12:30382737-30382738	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs78215563	chr12:30382787-30382788	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs7970567	chr12:30382795-30382796	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs184183095	chr12:30382824-30382825	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs371587344	chr12:30382840-30382841	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs552598427	chr12:30382849-30382850	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs563940333	chr12:30382869-30382870	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs537737774	chr12:30382883-30382884	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs75566483	chr12:30382892-30382893	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs16905841	chr12:30382930-30382931	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs567998826	chr12:30382954-30382955	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs549543212	chr12:30383008-30383009	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs536111742	chr12:30383018-30383019	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs376497197	chr12:30383019-30383020	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs7970841	chr12:30383022-30383023	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs539163448	chr12:30383026-30383027	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs188978701	chr12:30383036-30383037	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs577530382	chr12:30383068-30383069	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs535217385	chr12:30383083-30383084	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs138380296	chr12:30383139-30383140	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs191548852	chr12:30383149-30383150	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs542251320	chr12:30383162-30383163	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs554191776	chr12:30383189-30383190	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs34549979	chr12:30383197-30383198	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs144650722	chr12:30383729-30383730	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
40	rs148482973	chr12:30383743-30383744	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
41	rs12312088	chr12:30383748-30383749	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs142650559	chr12:30383766-30383767	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
43	rs115957923	chr12:30383784-30383785	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
44	rs147619643	chr12:30383824-30383825	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
45	rs562787134	chr12:30383837-30383838	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
46	rs140478208	chr12:30383857-30383858	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
47	rs145481271	chr12:30383869-30383870	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
48	rs566615070	chr12:30383870-30383871	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
49	rs527394780	chr12:30383874-30383875	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
50	rs1485419	chr12:30383903-30383904	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

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:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:30382200-30383000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr12:30382200-30383000	Enhancers	HMEC	breast
3	chr12:30382600-30383200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr12:30384200-30384800	Enhancers	Fetal Intestine Small	intestine
5	chr12:30388600-30389800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr12:30389000-30389400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr12:30394000-30394600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr12:30404200-30404600	Enhancers	H1 Cell Line	embryonic stem cell
9	chr12:30404200-30404800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr12:30404200-30405200	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr12:30404200-30405200	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr12:30404400-30404800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr12:30404400-30404800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr12:30404400-30404800	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr12:30404600-30405200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr12:30404800-30410200	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr12:30405200-30410200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr12:30405800-30408000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr12:30406200-30406400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr12:30406400-30410400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr12:30409000-30409200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr12:30409200-30416400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr12:30410200-30410600	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr12:30410200-30410600	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr12:30410200-30410800	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr12:30410200-30410800	Enhancers	H9 Cell Line	embryonic stem cell
27	chr12:30410400-30410800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr12:30410400-30410800	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr12:30410400-30410800	Enhancers	iPS-15b Cell Line	embryonic stem cell
30	chr12:30410400-30411400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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