Variant report

Variant	esv1793300
Chromosome Location	chr10:1581314-1585285
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: 280 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:280 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs576684926	chr10:1581438-1581439	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs542507545	chr10:1581445-1581446	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs544381549	chr10:1581466-1581467	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs561689174	chr10:1581610-1581611	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs572098722	chr10:1581616-1581617	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs541012334	chr10:1581660-1581661	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs564246543	chr10:1581700-1581701	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs2138692	chr10:1581728-1581729	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs549799902	chr10:1581760-1581761	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs74908791	chr10:1581836-1581837	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs186759365	chr10:1581851-1581852	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs548897083	chr10:1581852-1581853	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs386739856	chr10:1581875-1581876	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs2676177	chr10:1581876-1581877	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs12262046	chr10:1581903-1581904	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs193300580	chr10:1581931-1581932	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs143059365	chr10:1581939-1581940	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs4448618	chr10:1581991-1581992	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs4376829	chr10:1582085-1582086	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs58897743	chr10:1582148-1582149	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs183905238	chr10:1582181-1582182	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs551836487	chr10:1582278-1582279	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs147064454	chr10:1582283-1582284	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs556130712	chr10:1582326-1582327	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs377562905	chr10:1582331-1582332	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs572766392	chr10:1582335-1582336	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs138448178	chr10:1582399-1582400	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs563877286	chr10:1582403-1582404	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs76987136	chr10:1582418-1582419	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs188899893	chr10:1582446-1582447	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs369713628	chr10:1582449-1582450	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs2813463	chr10:1582523-1582524	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs529090328	chr10:1582524-1582525	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs548760836	chr10:1582531-1582532	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs192938846	chr10:1582532-1582533	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs535790408	chr10:1582548-1582549	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs61831930	chr10:1582549-1582550	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs570724870	chr10:1582586-1582587	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs536379074	chr10:1582590-1582591	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs545170895	chr10:1582679-1582680	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs2944604	chr10:1582680-1582681	Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs3956253	chr10:1582682-1582683	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs12242125	chr10:1582686-1582687	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs570149123	chr10:1582694-1582695	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs545375024	chr10:1582698-1582699	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs12243697	chr10:1582724-1582725	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs376943255	chr10:1582741-1582742	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs112354005	chr10:1582743-1582744	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs566378971	chr10:1582744-1582745	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs12243701	chr10:1582749-1582750	Weak transcription Genic enhancers	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:19 , 50 per page) page: 1

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

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