Variant report

Variant	esv3324027
Chromosome Location	chr10:4373852-4378450
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	chr10:4376764..4379078-chr10:4382397..4384956,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AKR1E2-4	chr10:4376602-4376686	XLOC_008359

Variant related genes	Relation type
SPHK1	miRNA target sites

Extended variants
information (count: 240 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:240 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs565010015	chr10:4373872-4373873	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs572885174	chr10:4373894-4373895	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs139814417	chr10:4373913-4373914	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs561649347	chr10:4373935-4373936	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs528969564	chr10:4373993-4373994	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs550543328	chr10:4374001-4374002	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs371194838	chr10:4374032-4374033	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs73590779	chr10:4374034-4374035	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs115787821	chr10:4374038-4374039	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs78036516	chr10:4374087-4374088	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs566398296	chr10:4374093-4374094	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs185443011	chr10:4374100-4374101	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs549339563	chr10:4374121-4374122	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs190541047	chr10:4374176-4374177	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs538325609	chr10:4374188-4374189	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs181486723	chr10:4374215-4374216	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs578217694	chr10:4374251-4374252	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs539194853	chr10:4374268-4374269	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs530319975	chr10:4374318-4374319	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs116250743	chr10:4374369-4374370	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs572748080	chr10:4374472-4374473	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs539873666	chr10:4374505-4374506	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs561716192	chr10:4374506-4374507	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs187565264	chr10:4374512-4374513	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs544298349	chr10:4374535-4374536	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs143133749	chr10:4374547-4374548	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs532977771	chr10:4374596-4374597	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs551135398	chr10:4374637-4374638	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs560046111	chr10:4374653-4374654	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs527564439	chr10:4374723-4374724	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs549147290	chr10:4374730-4374731	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs567644997	chr10:4374830-4374831	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs10904234	chr10:4374838-4374839	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs550258370	chr10:4374864-4374865	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs571734926	chr10:4374888-4374889	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs539256334	chr10:4374895-4374896	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs146699724	chr10:4374919-4374920	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs191848781	chr10:4374923-4374924	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs566418000	chr10:4374930-4374931	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs536950014	chr10:4374943-4374944	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs545867950	chr10:4374951-4374952	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs116734100	chr10:4375006-4375007	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs559818858	chr10:4375080-4375081	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs573590938	chr10:4375082-4375083	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs183993258	chr10:4375152-4375153	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs186902647	chr10:4375154-4375155	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs189830294	chr10:4375155-4375156	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs544839534	chr10:4375165-4375166	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs559904725	chr10:4375170-4375171	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs182814123	chr10:4375176-4375177	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

Disease	PMID	Source
Sudden cardiac death	19188705	CNVD
Digeorge syndrome	22283845	CNVD
Cancer	21129771	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
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
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
Renal cell carcinoma	18765545	CNVD
lymphocytic leukemia	21291569	CNVD
Urothelial cell carcinoma	18451213	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Breast cancer	21611746	CNVD

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:4364000-4374000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr10:4371200-4374400	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr10:4371800-4374200	Enhancers	NHEK	skin
4	chr10:4372600-4377400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr10:4373200-4374200	Enhancers	Hela-S3	cervix
6	chr10:4373400-4374200	Enhancers	Left Ventricle	heart
7	chr10:4373400-4374200	Enhancers	HMEC	breast
8	chr10:4373600-4377000	Weak transcription	Right Atrium	heart
9	chr10:4374000-4374200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr10:4374000-4377200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
11	chr10:4376000-4377200	Enhancers	Rectal Smooth Muscle	rectum
12	chr10:4376600-4377000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr10:4376600-4377000	ZNF genes & repeats	Primary B cells from peripheral blood	blood
14	chr10:4376600-4378200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr10:4376800-4377200	Enhancers	Aorta	Aorta
16	chr10:4376800-4377400	Active TSS	Skeletal Muscle Male	skeletal muscle
17	chr10:4376800-4378000	Enhancers	Colon Smooth Muscle	Colon
18	chr10:4377000-4377600	Enhancers	Osteobl	bone
19	chr10:4377200-4377400	Enhancers	Right Atrium	heart
20	chr10:4377200-4378000	Active TSS	Rectal Smooth Muscle	rectum
21	chr10:4377200-4378200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr10:4377200-4386200	Weak transcription	Aorta	Aorta
23	chr10:4377400-4379800	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr10:4378000-4386200	Weak transcription	Colon Smooth Muscle	Colon

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