Variant report

Variant	esv20739
Chromosome Location	chr10:997546-1000640
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:8)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:993243..997969-chr10:1000077..1005831,6	K562	blood:
2	chr10:988532..990709-chr10:1000522..1003406,2	MCF-7	breast:
3	chr10:995726..997603-chr10:1033507..1035656,2	K562	blood:
4	chr10:993243..997969-chr10:1000077..1005831,6	K562	blood:
5	chr10:1000614..1004584-chr10:1019814..1022762,4	K562	blood:
6	chr10:979434..982350-chr10:995576..997645,2	MCF-7	breast:
7	chr10:993234..997786-chr10:1013619..1016483,4	MCF-7	breast:
8	chr10:1000614..1004584-chr10:1019814..1022470,3	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AL359878.1-1	chr10:997609-997718	NONHSAT010887
2	lnc-AL359878.1-1	chr10:999388-1000122	NONHSAT010887

No data

Variant related genes	Relation type
ENSG00000205740	chromatin interactions
ENSG00000107937	chromatin interactions

Extended variants
information (count: 71 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:71 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7093767	chr10:997560-997561	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs117555188	chr10:997573-997574	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs564750174	chr10:997630-997631	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs190760542	chr10:997632-997633	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs183488277	chr10:997639-997640	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs7093910	chr10:997673-997674	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs140833606	chr10:997707-997708	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs71494941	chr10:998845-998846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs112859672	chr10:998899-998900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs144845918	chr10:998949-998950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs71491329	chr10:999001-999002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs148647279	chr10:999157-999158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs545756384	chr10:999261-999262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs546455730	chr10:999328-999329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs566558159	chr10:999354-999355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs5028397	chr10:999413-999414	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
17	rs374950848	chr10:999417-999418	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
18	rs538781339	chr10:999455-999456	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
19	rs558416589	chr10:999465-999466	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
20	rs575290506	chr10:999469-999470	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
21	rs537877902	chr10:999486-999487	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
22	rs187818762	chr10:999487-999488	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
23	rs368213883	chr10:999517-999518	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
24	rs574448700	chr10:999532-999533	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
25	rs7894775	chr10:999539-999540	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
26	rs554396916	chr10:999543-999544	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
27	rs577408740	chr10:999561-999562	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
28	rs546367352	chr10:999587-999588	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
29	rs192394733	chr10:999591-999592	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
30	rs531670956	chr10:999698-999699	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
31	rs541892115	chr10:999708-999709	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
32	rs375327844	chr10:999716-999717	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
33	rs534516289	chr10:999720-999721	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
34	rs527640961	chr10:999755-999756	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
35	rs546581640	chr10:999820-999821	Bivalent Enhancer Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
36	rs185194804	chr10:999830-999831	Bivalent Enhancer Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
37	rs536952385	chr10:999873-999874	Bivalent Enhancer Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
38	rs190088369	chr10:999874-999875	Bivalent Enhancer Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
39	rs554370980	chr10:999890-999891	Bivalent Enhancer Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
40	rs201974584	chr10:999899-999900	Bivalent Enhancer Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
41	rs570989013	chr10:999901-999902	Bivalent Enhancer Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
42	rs568890119	chr10:999909-999910	Bivalent Enhancer Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
43	rs537963963	chr10:999960-999961	Bivalent Enhancer Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
44	rs554661879	chr10:999977-999978	Bivalent Enhancer Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
45	rs181439818	chr10:1000071-1000072	Bivalent Enhancer Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
46	rs533765845	chr10:1000072-1000073	Bivalent Enhancer Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
47	rs386739783	chr10:1000104-1000105	Bivalent Enhancer Weak transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
48	rs554207848	chr10:1000190-1000191	Bivalent Enhancer Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs184862717	chr10:1000195-1000196	Bivalent Enhancer Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs546107786	chr10:1000232-1000233	Weak transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

Disease	PMID	Source
Cancer	20164920	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	20409316	CNVD
Gastric adenocarcinoma	19115996	CNVD
Pilocytic astrocytoma	18622384	CNVD
Pilomyxoid astrocytoma	18622384	CNVD
Breast cancer	17133270	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Cancer	21129771	CNVD
Sudden cardiac death	19188705	CNVD
Digeorge syndrome	22283845	CNVD
Colorectal cancer	20709793	CNVD
Wilms tumour	19047088	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21183584	CNVD
Barakat syndrome	22470819	CNVD
Melanoma	18172304	CNVD
Ovarian cancer	21720365	CNVD
Autism	18414403	CNVD
Malignant melanoma	18718029	CNVD
Breast cancer	22032731	CNVD
Medulloblastoma	16783165	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
Pleomorphic xanthoastrocytoma	20730472	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Melanoma	17363583	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Oral cancer	21386901	CNVD
Breast cancer	21785460	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	21509527	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Glioblastoma multiforme	21525872	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:998800-1026200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr10:999400-999800	Weak transcription	Lung	lung
3	chr10:999800-1000200	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr10:999800-1000200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr10:999800-1000600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr10:999800-1000600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr10:1000000-1000400	Bivalent Enhancer	HepG2	liver
8	chr10:1000200-1000400	Weak transcription	Lung	lung
9	chr10:1000400-1000600	Enhancers	Lung	lung
10	chr10:1000400-1000800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr10:1000600-1001200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr10:1000600-1001800	Weak transcription	Lung	lung

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