Variant report

Variant	esv3396161
Chromosome Location	chr10:996302-1000500
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:2)
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	chr10:993243..997969-chr10:1000077..1005831,6	K562	blood:
2	chr10:979434..982350-chr10:995576..997645,2	MCF-7	breast:
3	chr10:995726..997603-chr10:1033507..1035656,2	K562	blood:
4	chr10:993243..997969-chr10:1000077..1005831,6	K562	blood:
5	chr10:993234..997786-chr10:1013619..1016483,4	MCF-7	breast:

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

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

No data

Variant related genes	Relation type
ENSG00000107937	chromatin interactions
ENSG00000205740	chromatin interactions

Extended variants
information (count: 102 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:102 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531175291	chr10:996351-996352	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs550434801	chr10:996361-996362	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs550879483	chr10:996392-996393	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs139921131	chr10:996465-996466	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs536767033	chr10:996482-996483	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs150007333	chr10:996517-996518	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs566883454	chr10:996562-996563	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs145277619	chr10:996563-996564	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs558082076	chr10:996576-996577	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs577853837	chr10:996615-996616	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs115564086	chr10:996776-996777	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs562883025	chr10:996801-996802	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs556757758	chr10:996803-996804	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs78133344	chr10:996818-996819	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs375391452	chr10:996831-996832	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs189818294	chr10:996869-996870	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs558975167	chr10:996874-996875	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs10795301	chr10:996887-996888	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs546619789	chr10:996902-996903	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs544668279	chr10:996951-996952	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs376627924	chr10:996953-996954	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs565606357	chr10:996956-996957	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs149186120	chr10:996980-996981	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs551229247	chr10:997071-997072	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs142416746	chr10:997079-997080	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs530278450	chr10:997087-997088	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs547120187	chr10:997124-997125	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs146868566	chr10:997157-997158	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs541718066	chr10:997245-997246	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs10904590	chr10:997318-997319	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs182065471	chr10:997323-997324	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs539066915	chr10:997377-997378	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs558666753	chr10:997390-997391	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs567948622	chr10:997409-997410	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs145195217	chr10:997435-997436	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs556794767	chr10:997442-997443	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs186361506	chr10:997445-997446	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs542408244	chr10:997460-997461	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs137877050	chr10:997524-997525	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs7093767	chr10:997560-997561	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs117555188	chr10:997573-997574	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs564750174	chr10:997630-997631	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
43	rs190760542	chr10:997632-997633	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
44	rs183488277	chr10:997639-997640	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
45	rs7093910	chr10:997673-997674	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs140833606	chr10:997707-997708	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
47	rs71494941	chr10:998845-998846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs112859672	chr10:998899-998900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs144845918	chr10:998949-998950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs71491329	chr10:999001-999002	Weak transcription	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:10 , 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

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