Variant report

Variant	nsv1045305
Chromosome Location	chr12:34208344-34257469
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:3)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr12:34247375..34249864-chr12:34256794..34259523,2	MCF-7	breast:
2	chr12:34241238..34243550-chr12:38853316..38855678,2	MCF-7	breast:
3	chr12:34247375..34249864-chr12:34256794..34259523,2	MCF-7	breast:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ALG10-1	chr12:34209496-34209704	XLOC_009707
2	lnc-ALG10-1	chr12:34208992-34209394	XLOC_009707
3	lnc-ALG10-1	chr12:34209496-34209675	ENSG00000256538
4	lnc-ALG10-1	chr12:34208992-34209394	ENSG00000256538

No data

Variant related genes	Relation type
PPARGC1A	miRNA target sites

Extended variants
information (count: 121 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:121 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs567252236	chr12:34208345-34208346	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs201442916	chr12:34208366-34208367	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs529766018	chr12:34208389-34208390	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs140139176	chr12:34208411-34208412	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs11053076	chr12:34208418-34208419	Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs369416934	chr12:34208419-34208420	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs372413390	chr12:34208425-34208426	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs375400979	chr12:34208437-34208438	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs34703499	chr12:34208445-34208446	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs548764576	chr12:34208487-34208488	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs538222573	chr12:34208497-34208498	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs7980744	chr12:34208498-34208499	Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs186358984	chr12:34208501-34208502	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs75932601	chr12:34208563-34208564	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs534918737	chr12:34208618-34208619	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs534524862	chr12:34208680-34208681	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs367857225	chr12:34208712-34208713	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs555101071	chr12:34208715-34208716	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs12308600	chr12:34208791-34208792	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs537518920	chr12:34208799-34208800	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs557477227	chr12:34208805-34208806	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs577338876	chr12:34208814-34208815	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs546217015	chr12:34208838-34208839	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs191664679	chr12:34208844-34208845	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs377144519	chr12:34208856-34208857	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs183111098	chr12:34208869-34208870	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs561145317	chr12:34208900-34208901	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs572257245	chr12:34208923-34208924	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs187611291	chr12:34208940-34208941	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs190977062	chr12:34208961-34208962	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs529832302	chr12:34208962-34208963	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs548294727	chr12:34208969-34208970	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs567038094	chr12:34209004-34209005	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
34	rs549491506	chr12:34209035-34209036	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
35	rs923533	chr12:34209093-34209094	Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs374668919	chr12:34209122-34209123	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
37	rs7134850	chr12:34209167-34209168	Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs183543444	chr12:34209201-34209202	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
39	rs923532	chr12:34209213-34209214	Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs532506512	chr12:34209248-34209249	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
41	rs78316533	chr12:34209264-34209265	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
42	rs373502079	chr12:34209267-34209268	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
43	rs7134993	chr12:34209320-34209321	Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs548514861	chr12:34209388-34209389	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
45	rs539844518	chr12:34209503-34209504	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
46	rs553373283	chr12:34209505-34209506	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
47	rs572264918	chr12:34209603-34209604	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
48	rs548745682	chr12:34209611-34209612	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
49	rs186790631	chr12:34209612-34209613	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
50	rs369749602	chr12:34209632-34209633	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:52)

Disease	PMID	Source
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
Chronic lymphocytic leukemia	21546498	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
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	21509527	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Cancer	21129771	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chordoma	18071362	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:34207800-34208400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
2	chr12:34207800-34208600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
3	chr12:34207800-34209400	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr12:34208000-34208400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr12:34208000-34208400	Enhancers	Primary T helper cells PMA-I stimulated	--
6	chr12:34208000-34208600	Enhancers	Primary T helper cells fromperipheralblood	blood
7	chr12:34208200-34208400	Flanking Active TSS	Dnd41	blood
8	chr12:34208200-34208600	Active TSS	Primary T helper naive cells from peripheral blood	blood
9	chr12:34208400-34209000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr12:34208400-34209000	Enhancers	Dnd41	blood
11	chr12:34250200-34250600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr12:34250400-34251200	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr12:34251200-34251600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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