Variant report

Variant	nsv1061103
Chromosome Location	chr21:18401879-18445026
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:18417207..18417875-chr21:18518633..18519255,2	MCF-7	breast:
2	chr21:18422543..18424545-chr21:18477061..18478975,2	MCF-7	breast:
3	chr21:18314784..18315706-chr21:18417520..18418311,2	MCF-7	breast:

Extended variants
information (count: 1259 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:1259 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2178916	chr21:18402024-18402025	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs113700530	chr21:18402032-18402033	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs186810763	chr21:18402049-18402050	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs149069150	chr21:18402122-18402123	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs9305793	chr21:18402124-18402125	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs190078656	chr21:18402125-18402126	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs552962111	chr21:18402134-18402135	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs182688482	chr21:18402135-18402136	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs573093453	chr21:18402168-18402169	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs375857434	chr21:18402216-18402217	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs541618010	chr21:18402241-18402242	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs540586158	chr21:18402271-18402272	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs185881595	chr21:18402276-18402277	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs73892040	chr21:18402312-18402313	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs530503103	chr21:18402358-18402359	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs543939822	chr21:18402376-18402377	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs563858075	chr21:18402378-18402379	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs117413415	chr21:18402387-18402388	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs116660679	chr21:18404404-18404405	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs142808959	chr21:18404434-18404435	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs564787282	chr21:18404460-18404461	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs533544622	chr21:18404472-18404473	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs546883995	chr21:18404508-18404509	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs114080406	chr21:18404509-18404510	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs186773997	chr21:18404566-18404567	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs548962715	chr21:18404590-18404591	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs568939379	chr21:18404621-18404622	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs112959031	chr21:18404666-18404667	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs531488125	chr21:18404685-18404686	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs578129236	chr21:18404705-18404706	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs571472588	chr21:18404743-18404744	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs111493211	chr21:18404782-18404783	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs147430832	chr21:18404838-18404839	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs139799548	chr21:18404839-18404840	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs567342490	chr21:18404846-18404847	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs545350820	chr21:18404859-18404860	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs201247870	chr21:18404919-18404920	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs189059411	chr21:18404934-18404935	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs8126967	chr21:18404956-18404957	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs57261844	chr21:18404975-18404976	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs545198760	chr21:18406411-18406412	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs565265343	chr21:18406415-18406416	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs552106809	chr21:18406436-18406437	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs572313944	chr21:18406463-18406464	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs541419472	chr21:18406489-18406490	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs61528062	chr21:18406502-18406503	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs146629399	chr21:18406503-18406504	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs549997979	chr21:18406504-18406505	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs149227509	chr21:18406563-18406564	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs532231995	chr21:18406565-18406566	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

Disease	PMID	Source
Ovarian cancer	21720365	CNVD
Wilms tumour	21544195	CNVD
Esophageal cancer	21851588	CNVD
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
T-cell lymphomas	19863542	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
Acute lymphoblastic leukemia	21980252	CNVD
Metanephric adenoma	20802469	CNVD
Neuroblastoma	18923191	CNVD
Prostate cancer	19156837	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Cancer	20164919	CNVD
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
lymphocytic leukemia	21291569	CNVD
Hodgkin''s lymphoma	18641027	CNVD
abnormal development	18461090	CNVD
Breast cancer	21364760	CNVD
Multiple myeloma	17550852	CNVD
Myelofibrosis	22110671	CNVD
Alzheimer''s disease	18923514	CNVD
Alzheimer''s disease	20877625	CNVD
Follicular lymphoma	20505157	CNVD
Alzheimer''s disease	21956041	CNVD
Cancer	21183584	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Invasive pancreatic ductal carcinoma	16982739	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
Epilepsy	20502679	CNVD
22q11.2 microdeletion syndrome	19750312	CNVD
Breast cancer	20409316	CNVD
Breast cancer	22522925	CNVD
Acute myeloid leukemia	19651600	CNVD

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:18402000-18402400	Enhancers	ES-I3 Cell Line	embryonic stem cell
2	chr21:18404400-18405000	Enhancers	Rectal Smooth Muscle	rectum
3	chr21:18404600-18405000	Enhancers	Colon Smooth Muscle	Colon
4	chr21:18406400-18407200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
5	chr21:18407200-18407600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr21:18407200-18416000	Weak transcription	Fetal Heart	heart
7	chr21:18411000-18423400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr21:18413200-18413400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr21:18413400-18417200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr21:18414400-18414600	Enhancers	Pancreas	Pancrea
11	chr21:18414600-18414800	Weak transcription	Pancreas	Pancrea
12	chr21:18415600-18423600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr21:18416000-18416800	Enhancers	Fetal Heart	heart
14	chr21:18416400-18417000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr21:18416600-18417600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr21:18417000-18417400	Enhancers	Brain Anterior Caudate	brain
17	chr21:18417200-18417400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr21:18417400-18422000	Weak transcription	Brain Anterior Caudate	brain
19	chr21:18417400-18425400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr21:18417600-18418000	Active TSS	Fetal Brain Male	brain
21	chr21:18417600-18422200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr21:18421200-18421600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr21:18421200-18425400	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr21:18421400-18421800	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr21:18421400-18421800	Enhancers	Gastric	stomach
26	chr21:18421400-18422000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr21:18421400-18422000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr21:18421400-18422000	Enhancers	Esophagus	oesophagus
29	chr21:18421400-18424200	Enhancers	Placenta Amnion	Placenta Amnion
30	chr21:18421600-18423200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr21:18421800-18422400	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
32	chr21:18421800-18422600	Enhancers	iPS-20b Cell Line	embryonic stem cell
33	chr21:18421800-18422600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr21:18422000-18422200	Enhancers	H9 Cell Line	embryonic stem cell
35	chr21:18422000-18424200	Enhancers	Brain Anterior Caudate	brain
36	chr21:18422000-18425400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr21:18422000-18425800	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr21:18422200-18424400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr21:18422200-18426600	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr21:18422400-18422600	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr21:18422400-18423800	Enhancers	HUES64 Cell Line	embryonic stem cell
42	chr21:18422400-18424200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr21:18422400-18424400	Enhancers	HUES48 Cell Line	embryonic stem cell
44	chr21:18422400-18424400	Enhancers	HUES6 Cell Line	embryonic stem cell
45	chr21:18422600-18423000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
46	chr21:18422600-18423800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr21:18422600-18423800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr21:18422600-18423800	Enhancers	NHEK	skin
49	chr21:18422600-18424200	Enhancers	Breast Myoepithelial Primary Cells	Breast
50	chr21:18422600-18424200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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