Variant report

Variant	nsv1051284
Chromosome Location	chr10:16321532-16392126
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:10)
LncRNA
region (count:13)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:16327319..16329234-chr10:16331124..16332628,2	K562	blood:
2	chr10:16378750..16381635-chr10:16385964..16388665,2	K562	blood:
3	chr10:16327734..16329898-chr10:16330970..16332624,2	K562	blood:
4	chr10:16378750..16381635-chr10:16385964..16388665,2	K562	blood:
5	chr10:16337821..16339620-chr10:16340390..16342255,2	K562	blood:
6	chr10:16356271..16356862-chr10:16819173..16819762,2	MCF-7	breast:
7	chr10:16356096..16356854-chr10:16560586..16561200,2	MCF-7	breast:
8	chr10:16327319..16329234-chr10:16331124..16332628,2	K562	blood:
9	chr10:16337821..16339620-chr10:16340390..16342255,2	K562	blood:
10	chr10:16327734..16329898-chr10:16330970..16332624,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PTER-2	chr10:16330841-16331047	XLOC_008401
2	lnc-PTER-4	chr10:16377694-16377863	NONHSAT011593
3	lnc-PTER-4	chr10:16365735-16365913	NONHSAT011592
4	lnc-PTER-4	chr10:16370847-16371053	NONHSAT011592
5	lnc-PTER-2	chr10:16325729-16325907	XLOC_008401
6	lnc-PTER-4	chr10:16360706-16360754	NONHSAT011593
7	lnc-C1QL3-2	chr10:16380643-16380732	NONHSAT011594
8	lnc-PTER-2	chr10:16337688-16337857	XLOC_008401
9	lnc-PTER-4	chr10:16370847-16370906	NONHSAT011593
10	lnc-PTER-4	chr10:16365735-16365913	NONHSAT011593
11	lnc-PTER-2	chr10:16325729-16325907	XLOC_008401
12	lnc-PTER-2	chr10:16330841-16330900	XLOC_008401
13	lnc-PTER-4	chr10:16360706-16360754	NONHSAT011592

No data

Variant related genes	Relation type
AUH	miRNA target sites
SEPT9	miRNA target sites
SERBP1	miRNA target sites

Extended variants
information (count: 1700 )
Associated
traits (count: 46 )

Variant overlapped rSNPs/rCNVs (count:1700 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs78571272	chr10:16325734-16325735	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs544710808	chr10:16325740-16325741	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs571409899	chr10:16325751-16325752	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs148895631	chr10:16325799-16325800	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs142618665	chr10:16325806-16325807	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs575150596	chr10:16325816-16325817	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs182046370	chr10:16325836-16325837	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs369363572	chr10:16325872-16325873	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs3802557	chr10:16325878-16325879	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs561062613	chr10:16325881-16325882	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs528284576	chr10:16325887-16325888	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
12	rs146474903	chr10:16325900-16325901	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
13	rs536493241	chr10:16330860-16330861	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
14	rs34672078	chr10:16330883-16330884	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
15	rs573362447	chr10:16330900-16330901	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
16	rs188762419	chr10:16330901-16330902	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
17	rs552525946	chr10:16330941-16330942	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
18	rs577597952	chr10:16330979-16330980	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
19	rs564708166	chr10:16330995-16330996	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
20	rs544521388	chr10:16331016-16331017	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
21	rs375364534	chr10:16331018-16331019	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
22	rs550560237	chr10:16337689-16337690	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
23	rs568893435	chr10:16337703-16337704	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
24	rs184454112	chr10:16337707-16337708	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
25	rs554887798	chr10:16337730-16337731	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
26	rs188956631	chr10:16337743-16337744	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
27	rs1334588	chr10:16337762-16337763	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs558481546	chr10:16337838-16337839	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
29	rs181772087	chr10:16337840-16337841	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
30	rs544317900	chr10:16337845-16337846	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
31	rs537697426	chr10:16338820-16338821	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs549571033	chr10:16338822-16338823	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs545818850	chr10:16338827-16338828	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs568178675	chr10:16338880-16338881	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs7394109	chr10:16338897-16338898	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs572979725	chr10:16338944-16338945	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs554108927	chr10:16338949-16338950	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs572378221	chr10:16339007-16339008	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs540110780	chr10:16339022-16339023	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs190823497	chr10:16339034-16339035	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs144598356	chr10:16339055-16339056	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs181961850	chr10:16339064-16339065	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs376552923	chr10:16339069-16339070	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs11486226	chr10:16339071-16339072	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs186339462	chr10:16339075-16339076	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs574444013	chr10:16339077-16339078	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs201929882	chr10:16339079-16339080	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs541585377	chr10:16339120-16339121	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs540451950	chr10:16339130-16339131	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs12098540	chr10:16339175-16339176	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:46)

Disease	PMID	Source
Breast cancer	22032731	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Phyllodes tumor	17334353	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Medulloblastoma	21979893	CNVD
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Ewing''s sarcoma	17952124	CNVD
Oral cancer	21386901	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Renal cell carcinoma	18765545	CNVD
Autism	22495311	CNVD
Neurodevelopmental disorder	22521361	CNVD
DiGeorge-Velo cardiofacial	22470819	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21364760	CNVD
Esophageal cancer	21851588	CNVD
Adrenocortical carcinoma	18281524	CNVD
Digeorge syndrome	17576883	CNVD
Lung cancer	16773561	CNVD
Velocardiofacial syndrome	17576883	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	22048815	CNVD
Myelofibrosis	22110671	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Hepatocellular carcinoma	16750200	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:16338800-16339200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
2	chr10:16338800-16339400	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast
3	chr10:16339400-16339800	Active TSS	Breast Myoepithelial Primary Cells	Breast
4	chr10:16339600-16340000	Active TSS	A549	lung
5	chr10:16339600-16340000	Active TSS	Hela-S3	cervix
6	chr10:16340000-16340200	Flanking Active TSS	A549	lung
7	chr10:16340200-16340400	Enhancers	A549	lung
8	chr10:16358400-16359000	Enhancers	Fetal Brain Male	brain
9	chr10:16358600-16359000	Enhancers	Fetal Brain Female	brain
10	chr10:16359000-16362000	Weak transcription	Fetal Brain Male	brain
11	chr10:16359000-16362000	Weak transcription	Fetal Brain Female	brain
12	chr10:16362000-16362400	Enhancers	Fetal Brain Male	brain
13	chr10:16362000-16362400	Enhancers	Fetal Brain Female	brain
14	chr10:16362200-16362400	Enhancers	H1 Cell Line	embryonic stem cell
15	chr10:16362400-16369800	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr10:16363400-16363600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr10:16369800-16370200	Enhancers	H1 Cell Line	embryonic stem cell
18	chr10:16369800-16370400	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr10:16371800-16402200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr10:16388600-16390600	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr10:16389400-16390600	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr10:16390600-16391000	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr10:16390600-16391200	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr10:16390600-16391200	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr10:16390600-16391400	Enhancers	H1 Cell Line	embryonic stem cell
26	chr10:16390600-16391400	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr10:16390600-16392000	Enhancers	H9 Cell Line	embryonic stem cell
28	chr10:16390800-16391200	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr10:16391000-16391200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr10:16391000-16391400	Active TSS	iPS-20b Cell Line	embryonic stem cell
31	chr10:16391200-16403000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr10:16391400-16391800	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr10:16391800-16392000	Enhancers	H1 Cell Line	embryonic stem cell
34	chr10:16391800-16392000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr10:16392000-16401800	Weak transcription	H1 Cell Line	embryonic stem cell

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