Variant report

Variant	esv1805929
Chromosome Location	chr10:23605716-23607325
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	chr10:23605004..23607265-chr10:23613036..23614739,2	MCF-7	breast:

Extended variants
information (count: 77 )
Associated
traits (count: 38 )

Variant overlapped rSNPs/rCNVs (count:77 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4748860	chr10:23605716-23605717	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs116012928	chr10:23605720-23605721	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs370704597	chr10:23605737-23605738	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs548139250	chr10:23605857-23605858	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs142415717	chr10:23605859-23605860	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs185518253	chr10:23605860-23605861	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs533411372	chr10:23605877-23605878	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs147394102	chr10:23605896-23605897	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs66615923	chr10:23605914-23605915	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs377079580	chr10:23605916-23605917	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs4326695	chr10:23605930-23605931	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs554768944	chr10:23605942-23605943	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs189593946	chr10:23605960-23605961	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs180787949	chr10:23605961-23605962	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs184973454	chr10:23605972-23605973	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs188611985	chr10:23605994-23605995	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs576724486	chr10:23606029-23606030	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs113447127	chr10:23606136-23606137	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs545401302	chr10:23606154-23606155	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs4297364	chr10:23606170-23606171	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs115964529	chr10:23606171-23606172	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs60845874	chr10:23606199-23606200	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs74125106	chr10:23606222-23606223	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs553147953	chr10:23606244-23606245	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs527922933	chr10:23606247-23606248	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs181061552	chr10:23606255-23606256	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs564771070	chr10:23606256-23606257	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs548352144	chr10:23606270-23606271	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs376361836	chr10:23606275-23606276	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs375263913	chr10:23606298-23606299	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs55695841	chr10:23606333-23606334	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs550164320	chr10:23606352-23606353	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs569922746	chr10:23606353-23606354	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs529262271	chr10:23606390-23606391	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs9888000	chr10:23606391-23606392	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs376874035	chr10:23606409-23606410	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs539297996	chr10:23606433-23606434	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs139148668	chr10:23606456-23606457	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs533781570	chr10:23606457-23606458	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs553505611	chr10:23606464-23606465	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs370320466	chr10:23606506-23606507	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs71493318	chr10:23606555-23606556	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs11013384	chr10:23606567-23606568	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs11013385	chr10:23606595-23606596	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs570425674	chr10:23606619-23606620	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs185887312	chr10:23606647-23606648	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs556146699	chr10:23606670-23606671	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs557342165	chr10:23606721-23606722	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs71493319	chr10:23606774-23606775	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs541794489	chr10:23606809-23606810	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:38)

Disease	PMID	Source
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
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Ewing''s sarcoma	17952124	CNVD
Oral cancer	21386901	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
T-cell lymphomas	19863542	CNVD
Esophageal cancer	21851588	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Behavioral abnormalities	21522184	CNVD
Dysmorphic features	21522184	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Glioblastoma multiforme	22286061	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:23599800-23632200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr10:23603200-23607200	Enhancers	Hela-S3	cervix
3	chr10:23605200-23606200	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr10:23605200-23606400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
5	chr10:23605200-23612400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr10:23605400-23606200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr10:23606000-23606600	Enhancers	Fetal Stomach	stomach
8	chr10:23606000-23607600	Enhancers	Fetal Lung	lung
9	chr10:23606200-23606400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr10:23606200-23606400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr10:23606200-23606800	Bivalent Enhancer	Stomach Smooth Muscle	stomach
12	chr10:23606400-23606600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr10:23606400-23607200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr10:23606400-23620600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr10:23607200-23607400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr10:23607200-23607800	Flanking Active TSS	Hela-S3	cervix

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