Variant report

Variant	esv3328915
Chromosome Location	chr21:39801313-39801602
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 83 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:83 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs575418939	chr21:39801315-39801316	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs140702750	chr21:39801317-39801318	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs115463216	chr21:39801330-39801331	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs28811397	chr21:39801331-39801332	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs533528546	chr21:39801332-39801333	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs58665757	chr21:39801342-39801343	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs371491066	chr21:39801346-39801347	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs560647946	chr21:39801350-39801351	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs529586809	chr21:39801358-39801359	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs144523202	chr21:39801362-39801363	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs200554867	chr21:39801366-39801367	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs62217934	chr21:39801367-39801368	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs201665058	chr21:39801369-39801370	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs371561471	chr21:39801370-39801371	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs62217935	chr21:39801374-39801375	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs13049905	chr21:39801379-39801380	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs13050011	chr21:39801380-39801381	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs576821372	chr21:39801381-39801382	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs375407664	chr21:39801382-39801383	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs531694688	chr21:39801384-39801385	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs369428728	chr21:39801389-39801390	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs551434551	chr21:39801390-39801391	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs570329729	chr21:39801391-39801392	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs187450854	chr21:39801392-39801393	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs576855062	chr21:39801393-39801394	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs553112711	chr21:39801394-39801395	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs191035378	chr21:39801396-39801397	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs377263373	chr21:39801397-39801398	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs562390196	chr21:39801401-39801402	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs13050311	chr21:39801405-39801406	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs555402465	chr21:39801408-39801409	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs57838998	chr21:39801409-39801410	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs61171163	chr21:39801414-39801415	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs139121659	chr21:39801416-39801417	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs13050110	chr21:39801418-39801419	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs549156226	chr21:39801419-39801420	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs201235610	chr21:39801421-39801422	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs557920406	chr21:39801422-39801423	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs372055169	chr21:39801427-39801428	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs199832403	chr21:39801428-39801429	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs540516871	chr21:39801433-39801434	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs560727064	chr21:39801435-39801436	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs529570219	chr21:39801438-39801439	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs147806403	chr21:39801439-39801440	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs141227971	chr21:39801442-39801443	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs531565981	chr21:39801445-39801446	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs57689982	chr21:39801447-39801448	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs547796402	chr21:39801451-39801452	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs559996252	chr21:39801454-39801455	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs58796403	chr21:39801462-39801463	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:39772600-39803000	Weak transcription	Adipose Nuclei	Adipose
2	chr21:39781000-39807400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr21:39784800-39807400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr21:39785200-39808400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
5	chr21:39786600-39803600	Strong transcription	Primary hematopoietic stem cells	blood
6	chr21:39788000-39807000	Weak transcription	Fetal Muscle Trunk	muscle
7	chr21:39790400-39802400	Weak transcription	Left Ventricle	heart
8	chr21:39794800-39806200	Weak transcription	Spleen	Spleen
9	chr21:39795400-39813000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr21:39796600-39815600	Weak transcription	Gastric	stomach
11	chr21:39796800-39802600	Weak transcription	Fetal Stomach	stomach
12	chr21:39796800-39806200	Weak transcription	Lung	lung
13	chr21:39796800-39807400	Weak transcription	Aorta	Aorta
14	chr21:39797000-39810800	Weak transcription	Fetal Thymus	thymus
15	chr21:39800400-39804000	Weak transcription	Primary neutrophils fromperipheralblood	blood
16	chr21:39800600-39802000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr21:39800600-39804600	Weak transcription	Fetal Heart	heart
18	chr21:39801000-39801600	Weak transcription	Fetal Lung	lung
19	chr21:39801200-39803200	Weak transcription	HUVEC	blood vessel
20	chr21:39801200-39811400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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