Variant report

Variant	nsv913427
Chromosome Location	chr21:18295194-18373340
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:18314784..18315706-chr21:18417520..18418311,2	MCF-7	breast:
2	chr21:18314921..18315497-chr21:18652510..18653021,2	MCF-7	breast:
3	chr21:18346274..18348529-chr21:18641207..18644043,2	K562	blood:
4	chr21:18314768..18315296-chr21:18518465..18519002,2	MCF-7	breast:
5	chr21:18314911..18315492-chr21:18505253..18506119,2	MCF-7	breast:
6	chr21:18341843..18342363-chr3:24310025..24310623,2	MCF-7	breast:

Extended variants
information (count: 1105 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:1105 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs147048676	chr21:18304229-18304230	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs138385705	chr21:18304240-18304241	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs76043018	chr21:18304278-18304279	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs370788411	chr21:18304288-18304289	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs550352201	chr21:18304329-18304330	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs2824147	chr21:18304343-18304344	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs376630007	chr21:18304345-18304346	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs546302148	chr21:18304355-18304356	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs377326690	chr21:18304379-18304380	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs143931861	chr21:18304385-18304386	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs535457761	chr21:18304423-18304424	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs548729956	chr21:18304454-18304455	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs370648603	chr21:18304481-18304482	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs568720217	chr21:18304510-18304511	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs537779109	chr21:18304516-18304517	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs557583163	chr21:18304523-18304524	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs577516445	chr21:18304528-18304529	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs370723509	chr21:18304552-18304553	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs539901400	chr21:18304562-18304563	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs56973304	chr21:18304584-18304585	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs573126594	chr21:18304612-18304613	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs139637563	chr21:18304619-18304620	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs561983227	chr21:18304634-18304635	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs575180248	chr21:18304696-18304697	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs544104126	chr21:18304735-18304736	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs563901115	chr21:18304768-18304769	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs532977718	chr21:18304778-18304779	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs561706992	chr21:18304832-18304833	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs375173504	chr21:18304839-18304840	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs115731027	chr21:18304878-18304879	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs75035726	chr21:18304880-18304881	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs543533312	chr21:18304881-18304882	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs185609815	chr21:18304918-18304919	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs532366791	chr21:18304935-18304936	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs552491268	chr21:18304937-18304938	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs548952706	chr21:18304940-18304941	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs568804215	chr21:18304961-18304962	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs537691914	chr21:18304962-18304963	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs527497460	chr21:18305044-18305045	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs190071018	chr21:18305078-18305079	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs571022510	chr21:18305102-18305103	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs540059089	chr21:18305191-18305192	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs183062323	chr21:18305201-18305202	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs186778858	chr21:18305232-18305233	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs535622962	chr21:18305245-18305246	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs555687717	chr21:18305258-18305259	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs575249211	chr21:18305374-18305375	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs559628207	chr21:18305385-18305386	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs541044922	chr21:18305419-18305420	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs369857205	chr21:18305421-18305422	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

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
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:18304200-18304800	Enhancers	H9 Cell Line	embryonic stem cell
2	chr21:18304200-18304800	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr21:18304200-18305400	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr21:18304200-18306600	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr21:18304400-18304800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
6	chr21:18304400-18304800	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr21:18304400-18305200	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr21:18304400-18305400	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr21:18304400-18305400	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr21:18304400-18306000	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr21:18305000-18305400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr21:18305400-18305600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr21:18305600-18306000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr21:18306000-18306200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr21:18306200-18306600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr21:18306200-18307400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr21:18315400-18315600	Bivalent/Poised TSS	Gastric	stomach
18	chr21:18317800-18318200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr21:18319200-18320000	Enhancers	Stomach Smooth Muscle	stomach
20	chr21:18326400-18327600	Enhancers	Brain Germinal Matrix	brain
21	chr21:18326800-18327000	Enhancers	Pancreatic Islets	Pancreatic Islet
22	chr21:18326800-18327400	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr21:18327000-18327400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr21:18327000-18327400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr21:18327000-18327400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr21:18327000-18328000	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr21:18327400-18329000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr21:18327400-18329000	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr21:18328000-18329200	Enhancers	Pancreatic Islets	Pancreatic Islet
30	chr21:18329000-18329600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr21:18329000-18329600	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr21:18331800-18332800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
33	chr21:18334800-18336400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr21:18340400-18341400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr21:18340800-18341600	Enhancers	Liver	Liver
36	chr21:18341000-18341200	Enhancers	Muscle Satellite Cultured Cells	--
37	chr21:18341200-18341800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr21:18341200-18348600	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr21:18341800-18342200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr21:18342200-18342600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr21:18346800-18347200	Enhancers	Colon Smooth Muscle	Colon
42	chr21:18347000-18347200	Enhancers	Rectal Smooth Muscle	rectum
43	chr21:18347200-18347400	Weak transcription	Colon Smooth Muscle	Colon
44	chr21:18347200-18348800	Weak transcription	Rectal Smooth Muscle	rectum
45	chr21:18347400-18347800	Enhancers	Colon Smooth Muscle	Colon
46	chr21:18347800-18348600	Weak transcription	Colon Smooth Muscle	Colon
47	chr21:18348000-18348800	Enhancers	NHEK	skin
48	chr21:18348200-18349800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr21:18348200-18352000	Enhancers	Cortex derived primary cultured neurospheres	brain
50	chr21:18348400-18348600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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