Variant report

Variant	esv15632
Chromosome Location	chr21:39973933-39975874
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	chr21:39968614..39970527-chr21:39974019..39976201,2	MCF-7	breast:
2	chr21:39973136..39976022-chr21:39976251..39978959,2	MCF-7	breast:

Extended variants
information (count: 82 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:82 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs117131937	chr21:39973962-39973963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs184302112	chr21:39974060-39974061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs571666819	chr21:39974106-39974107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs8128621	chr21:39974107-39974108	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs149438369	chr21:39974132-39974133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs8128265	chr21:39974140-39974141	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs386076	chr21:39974159-39974160	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs189121675	chr21:39974170-39974171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs8129444	chr21:39974184-39974185	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs559144135	chr21:39974234-39974235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs376935513	chr21:39974235-39974236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs537803144	chr21:39974288-39974289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs13052522	chr21:39974330-39974331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs13052525	chr21:39974335-39974336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs8128691	chr21:39974338-39974339	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs577635529	chr21:39974355-39974356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs368557252	chr21:39974356-39974357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs140828735	chr21:39974470-39974471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs545928147	chr21:39974561-39974562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs191602221	chr21:39974616-39974617	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs75198902	chr21:39974624-39974625	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs184923681	chr21:39974628-39974629	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs189916191	chr21:39974634-39974635	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs531610581	chr21:39974664-39974665	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs144687997	chr21:39974667-39974668	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs147830654	chr21:39974670-39974671	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs2836557	chr21:39974671-39974672	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs34835044	chr21:39974675-39974676	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs546437167	chr21:39974676-39974677	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs566321569	chr21:39974791-39974792	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs7281963	chr21:39974827-39974828	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs548870327	chr21:39974862-39974863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs79846800	chr21:39974870-39974871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs111800917	chr21:39974952-39974953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs532009053	chr21:39974959-39974960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs2836558	chr21:39974966-39974967	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs571279678	chr21:39974968-39974969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs533879682	chr21:39974981-39974982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs373463169	chr21:39974987-39974988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs28735549	chr21:39975124-39975125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs149966488	chr21:39975129-39975130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs11702164	chr21:39975134-39975135	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs35045950	chr21:39975142-39975143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs369778309	chr21:39975170-39975171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs576641152	chr21:39975195-39975196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs2836559	chr21:39975216-39975217	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs565279456	chr21:39975228-39975229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs11702226	chr21:39975283-39975284	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs57461137	chr21:39975299-39975300	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs561001415	chr21:39975301-39975302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Cancer	16751803	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Down syndrome	17412756	CNVD
Down syndrome	17576883	CNVD
Acute promyelocytic leukemia	19109227	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	17387387	CNVD
Renal cell carcinoma	19461508	CNVD
Seminomas	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Prostate cancer	19156837	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
lymphocytic leukemia	21291569	CNVD
Melanoma	18172304	CNVD
Autism	22958593	CNVD
Schizophrenia	22958593	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Wilms tumour	21544195	CNVD
Ewing''s sarcoma	17952124	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	21364760	CNVD
Acute myeloid leukemia	16864856	CNVD
Mental retardation	21031080	CNVD
Polymicrogyria	21031080	CNVD
periventricular nodular heterotopia	21031080	CNVD
Myelodysplastic syndrome	21606161	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Acute myeloid leukemia	17237825	CNVD
Autism	18414403	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Breast cancer	21858162	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	17899364	CNVD
Down syndrome	20877625	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cancer	20164920	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Prostate cancer	21147910	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Prostate cancer	17245344	CNVD
Prostate cancer	20473283	CNVD
Chordoma	18071362	CNVD
Prostate cancer	20562851	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:39969000-39976600	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr21:39970200-39977200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr21:39970400-39976600	Weak transcription	Fetal Brain Male	brain
4	chr21:39973000-39982000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr21:39974600-39974800	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr21:39974800-39977400	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr21:39975400-39976000	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr21:39975400-39977600	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr21:39975600-39976000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
10	chr21:39975600-39977200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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