Variant report

Variant	nsv550122
Chromosome Location	chr10:18993303-19017942
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:18998369..19000630-chr10:19002071..19003757,2	MCF-7	breast:
2	chr10:18945906..18949113-chr10:19016266..19020079,3	K562	blood:
3	chr10:18998369..19000630-chr10:19002071..19003757,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ARL5B-4	chr10:19007055-19010573	ucscGeneNc_uc001iqe_2

Variant related genes	Relation type
ENSG00000165997	chromatin interactions
ENSG00000152487	chromatin interactions
SGK269	miRNA target sites

Extended variants
information (count: 724 )
Associated
traits (count: 41 )

Variant overlapped rSNPs/rCNVs (count:724 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs147900984	chr10:18995203-18995204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs75309736	chr10:18995233-18995234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs78034092	chr10:18995250-18995251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs77372409	chr10:18995268-18995269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs141696347	chr10:18995297-18995298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs550072786	chr10:18995302-18995303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs187725354	chr10:18995307-18995308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs192230648	chr10:18995322-18995323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs184259277	chr10:18995323-18995324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs548220992	chr10:18995324-18995325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs187274074	chr10:18995330-18995331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs527781285	chr10:18995331-18995332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs552210374	chr10:18995336-18995337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs147082314	chr10:18995341-18995342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs12571697	chr10:18995363-18995364	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs556694946	chr10:18995364-18995365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs568694708	chr10:18995393-18995394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs147727947	chr10:18995416-18995417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs149209045	chr10:18995423-18995424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs572030617	chr10:18995428-18995429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs545931778	chr10:18995435-18995436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs4606381	chr10:18995484-18995485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs576068117	chr10:18995496-18995497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs543288507	chr10:18995528-18995529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs184560743	chr10:18995629-18995630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs529223076	chr10:18995630-18995631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs4606382	chr10:18995633-18995634	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs111820060	chr10:18995671-18995672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs201144607	chr10:18995690-18995691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs189648703	chr10:18995695-18995696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs397846185	chr10:18995700-18995701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs552273722	chr10:18995709-18995710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs180827694	chr10:18995710-18995711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs531815826	chr10:18995713-18995714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs550147303	chr10:18995722-18995723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs372979176	chr10:18995759-18995760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs370253094	chr10:18995775-18995776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs568594557	chr10:18995780-18995781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs536166094	chr10:18995797-18995798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs554473223	chr10:18995832-18995833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs58863883	chr10:18995853-18995854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs565702061	chr10:18995876-18995877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs10829260	chr10:18995894-18995895	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs557721692	chr10:18995958-18995959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs35818823	chr10:18995964-18995965	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
46	rs543504100	chr10:18995980-18995981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs555272652	chr10:18996050-18996051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs35940296	chr10:18996056-18996057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs112089971	chr10:18996101-18996102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs368500698	chr10:18996123-18996124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:41)

Disease	PMID	Source
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
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
Autism	22495311	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal cancer	21851588	CNVD
Intracranial aneurysm	16715129	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
Multiple myeloma	16616336	CNVD
T-cell lymphomas	19863542	CNVD
small cell lung cancer	20016488	CNVD
Epilepsy	22083797	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:18995200-18999400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr10:18999400-18999800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr10:19001400-19002000	Enhancers	Fetal Intestine Small	intestine
4	chr10:19001400-19003000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr10:19001600-19002600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr10:19001600-19002600	Enhancers	Fetal Intestine Large	intestine
7	chr10:19001800-19002200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr10:19001800-19002200	Enhancers	NH-A	brain
9	chr10:19001800-19002600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr10:19001800-19002600	Enhancers	Muscle Satellite Cultured Cells	--
11	chr10:19001800-19002600	Enhancers	NHDF-Ad	bronchial
12	chr10:19001800-19002600	Enhancers	NHEK	skin
13	chr10:19001800-19002600	Enhancers	Osteobl	bone
14	chr10:19001800-19002800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr10:19001800-19002800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr10:19001800-19002800	Enhancers	Hela-S3	cervix
17	chr10:19001800-19002800	Enhancers	HMEC	breast
18	chr10:19002000-19002200	Enhancers	HSMM	muscle
19	chr10:19002000-19002400	Enhancers	A549	lung
20	chr10:19002000-19002400	Enhancers	HepG2	liver
21	chr10:19002000-19002600	Enhancers	Placenta Amnion	Placenta Amnion
22	chr10:19002600-19008600	Weak transcription	Fetal Intestine Large	intestine
23	chr10:19002800-19007800	Weak transcription	Hela-S3	cervix
24	chr10:19004200-19004400	Enhancers	Placenta Amnion	Placenta Amnion
25	chr10:19007800-19009400	Enhancers	Hela-S3	cervix
26	chr10:19008600-19009000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr10:19008600-19009400	Enhancers	Fetal Intestine Large	intestine
28	chr10:19008600-19009800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr10:19009000-19009200	Enhancers	Osteobl	bone
30	chr10:19009400-19010000	Weak transcription	Fetal Intestine Large	intestine
31	chr10:19010000-19010200	Enhancers	Fetal Intestine Large	intestine
32	chr10:19013400-19013600	Enhancers	Primary hematopoietic stem cells	blood

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