Variant report

Variant	esv1814319
Chromosome Location	chr10:1580035-1585629
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:1575954..1577793-chr10:1581018..1583790,2	K562	blood:

Extended variants
information (count: 360 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:360 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs150159145	chr10:1580048-1580049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs534020992	chr10:1580060-1580061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs187153818	chr10:1580083-1580084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs534973363	chr10:1580101-1580102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs539680191	chr10:1580168-1580169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs80190479	chr10:1580175-1580176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs61831929	chr10:1580185-1580186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs12244289	chr10:1580187-1580188	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs2176381	chr10:1580203-1580204	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs544256921	chr10:1580248-1580249	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs2676778	chr10:1580286-1580287	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs574580686	chr10:1580377-1580378	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs370311732	chr10:1580388-1580389	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs376372118	chr10:1580399-1580400	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs540470735	chr10:1580406-1580407	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs191586225	chr10:1580426-1580427	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs147732562	chr10:1580435-1580436	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs532701582	chr10:1580439-1580440	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs2676779	chr10:1580450-1580451	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs183492305	chr10:1580451-1580452	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs374350736	chr10:1580489-1580490	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs533339336	chr10:1580490-1580491	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs111659666	chr10:1580528-1580529	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs568208581	chr10:1580536-1580537	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs368218033	chr10:1580539-1580540	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs199598150	chr10:1580562-1580563	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs75711019	chr10:1580563-1580564	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs7475509	chr10:1580573-1580574	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs4253993	chr10:1580662-1580663	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs556449712	chr10:1580667-1580668	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs569833858	chr10:1580720-1580721	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs538276828	chr10:1580721-1580722	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs371821962	chr10:1580729-1580730	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs79313342	chr10:1580732-1580733	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs574592879	chr10:1580743-1580744	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs540286102	chr10:1580760-1580761	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs553969973	chr10:1580770-1580771	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs148911283	chr10:1580794-1580795	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs546066925	chr10:1580825-1580826	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs545001348	chr10:1580826-1580827	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs563238577	chr10:1580832-1580833	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs531909632	chr10:1580833-1580834	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs376415964	chr10:1580847-1580848	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs565187085	chr10:1580889-1580890	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs116345663	chr10:1580932-1580933	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs527398937	chr10:1580933-1580934	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs369213061	chr10:1580935-1580936	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs547486120	chr10:1580966-1580967	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs371970106	chr10:1580978-1580979	Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs570431004	chr10:1581012-1581013	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
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
Breast cancer	21858162	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Autism	22543975	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:1577400-1580800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr10:1578800-1580200	Weak transcription	Dnd41	blood
3	chr10:1578800-1580400	Weak transcription	Fetal Thymus	thymus
4	chr10:1580200-1581200	Strong transcription	Dnd41	blood
5	chr10:1580400-1581800	Enhancers	Fetal Thymus	thymus
6	chr10:1580800-1581000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr10:1580800-1581000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr10:1580800-1582400	Enhancers	Brain Germinal Matrix	brain
9	chr10:1581000-1581200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr10:1581000-1585400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr10:1581200-1582400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr10:1581200-1588400	Weak transcription	Dnd41	blood
13	chr10:1581600-1581800	Enhancers	Pancreas	Pancrea
14	chr10:1581800-1582600	Enhancers	GM12878-XiMat	blood
15	chr10:1582400-1582600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr10:1582400-1585400	Weak transcription	Brain Germinal Matrix	brain
17	chr10:1582600-1582800	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr10:1582800-1584000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr10:1583200-1587800	Weak transcription	Spleen	Spleen
20	chr10:1584000-1584400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr10:1584400-1586400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr10:1585200-1585400	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
23	chr10:1585200-1585400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr10:1585200-1585400	Enhancers	Brain Anterior Caudate	brain
25	chr10:1585200-1585400	Enhancers	Fetal Muscle Leg	muscle
26	chr10:1585200-1594800	Weak transcription	Right Atrium	heart
27	chr10:1585400-1585600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr10:1585400-1585600	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
29	chr10:1585400-1585600	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr10:1585400-1586000	Enhancers	Fetal Brain Female	brain
31	chr10:1585400-1586200	Weak transcription	Brain Anterior Caudate	brain
32	chr10:1585400-1587400	Enhancers	Brain Germinal Matrix	brain

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