Variant report

Variant	esv3384212
Chromosome Location	chr21:46446924-46449822
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:46449255..46451183-chr21:46452644..46454339,2	K562	blood:
2	chr21:46449363..46451001-chr21:46455293..46458206,2	K562	blood:
3	chr21:46369370..46370376-chr21:46446419..46447301,3	K562	blood:
4	chr21:46434381..46436441-chr21:46445572..46447810,2	K562	blood:
5	chr21:46446924..46449567-chr21:46450451..46452982,2	MCF-7	breast:
6	chr21:46445172..46447919-chr21:46452424..46454298,3	K562	blood:

Extended variants
information (count: 154 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:154 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs565665831	chr21:46446944-46446945	Enhancers Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs2838754	chr21:46447009-46447010	Enhancers Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs545544015	chr21:46447099-46447100	Enhancers Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs563766368	chr21:46447120-46447121	Enhancers Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs377621246	chr21:46447125-46447126	Enhancers Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs575588195	chr21:46447143-46447144	Enhancers Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs182980117	chr21:46447153-46447154	Enhancers Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs143579489	chr21:46447178-46447179	Enhancers Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs561099924	chr21:46447220-46447221	Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
10	rs529206237	chr21:46447240-46447241	Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
11	rs547276866	chr21:46447264-46447265	Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
12	rs557571256	chr21:46447270-46447271	Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
13	rs187274015	chr21:46447302-46447303	Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
14	rs148063422	chr21:46447331-46447332	Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
15	rs143802198	chr21:46447332-46447333	Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
16	rs569742989	chr21:46447386-46447387	Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
17	rs536701414	chr21:46447390-46447391	Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
18	rs57619688	chr21:46447391-46447392	Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs567115915	chr21:46447404-46447405	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
20	rs535373916	chr21:46447431-46447432	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
21	rs193266384	chr21:46447478-46447479	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
22	rs183662104	chr21:46447485-46447486	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
23	rs187871149	chr21:46447526-46447527	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
24	rs557231074	chr21:46447548-46447549	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
25	rs192519752	chr21:46447553-46447554	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
26	rs376564058	chr21:46447560-46447561	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
27	rs184442822	chr21:46447564-46447565	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
28	rs561371119	chr21:46447565-46447566	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
29	rs146417077	chr21:46447571-46447572	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
30	rs115385525	chr21:46447576-46447577	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
31	rs573643481	chr21:46447596-46447597	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
32	rs559214268	chr21:46447601-46447602	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs187311187	chr21:46447639-46447640	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs551166054	chr21:46447694-46447695	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs62214553	chr21:46447697-46447698	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs563309918	chr21:46447751-46447752	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs530644861	chr21:46447754-46447755	Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs73228307	chr21:46447861-46447862	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs191711689	chr21:46447873-46447874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs567282409	chr21:46447885-46447886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs534593586	chr21:46447905-46447906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs572024096	chr21:46447906-46447907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs374631900	chr21:46447907-46447908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs139121930	chr21:46447940-46447941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs546529980	chr21:46447962-46447963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs539290420	chr21:46447974-46447975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs557547074	chr21:46447976-46447977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs575735502	chr21:46447989-46447990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs536783453	chr21:46448005-46448006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs11909368	chr21:46448011-46448012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:102)

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 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
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
Autism	18414403	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Breast cancer	21858162	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	17899364	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	20473283	CNVD
Chordoma	18071362	CNVD
Glioblastoma multiforme	18628472	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-syndromic sensorineural hearing loss	17457615	CNVD
Ewing''s sarcoma	21437220	CNVD
Lung adenocarcinoma	17086460	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Ovarian neoplasms	16753589	CNVD
Non-small cell lung cancer	21829676	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Gastric adenocarcinoma	19115996	CNVD
Acute myeloid leukemia	21358987	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Prostate cancer	23341502	CNVD
Ovarian cancer	21720365	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	21251322	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Cholangiocarcinoma	16830362	CNVD
Down syndrome	17334655	CNVD
Neuroticism	17667963	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Autoimmune polyendocrine syndrome	18200029	CNVD
Prostate cancer	19363497	CNVD
Lung cancer	17086460	CNVD
Olfactory neuroblastoma	18408657	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Multiple myeloma	16616336	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21509527	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	17142309	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	17426248	CNVD
Developmental delay	21147756	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	23813976	CNVD
Aortic dissecting aneurysms	22263138	CNVD
Williams-beuren syndrome	16826523	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46438600-46453000	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr21:46439400-46452200	Weak transcription	Esophagus	oesophagus
3	chr21:46440600-46449200	Weak transcription	Right Atrium	heart
4	chr21:46441600-46449400	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr21:46442200-46450800	Weak transcription	Spleen	Spleen
6	chr21:46446000-46447200	Enhancers	Fetal Muscle Trunk	muscle
7	chr21:46446000-46447600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr21:46446600-46447200	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr21:46446600-46447200	Genic enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr21:46446600-46447600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr21:46446600-46447600	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr21:46446600-46451400	Weak transcription	Ovary	ovary
13	chr21:46446800-46447200	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr21:46446800-46447400	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr21:46446800-46447600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr21:46446800-46448600	Weak transcription	Fetal Muscle Leg	muscle
17	chr21:46446800-46452400	Weak transcription	Aorta	Aorta
18	chr21:46447000-46447200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
19	chr21:46447000-46447200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
20	chr21:46447000-46447200	Bivalent Enhancer	HepG2	liver
21	chr21:46447000-46447200	Bivalent Enhancer	K562	blood
22	chr21:46447000-46447400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr21:46447000-46447600	Enhancers	H1 Cell Line	embryonic stem cell
24	chr21:46447200-46447400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr21:46447200-46447400	Enhancers	Fetal Lung	lung
26	chr21:46447200-46447600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
27	chr21:46447200-46447600	Flanking Bivalent TSS/Enh	HepG2	liver
28	chr21:46447400-46449200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr21:46447400-46449200	Weak transcription	Fetal Lung	lung
30	chr21:46447400-46449400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr21:46447600-46447800	Bivalent Enhancer	HepG2	liver
32	chr21:46447600-46449200	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr21:46447600-46449200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr21:46447600-46449200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr21:46447600-46449200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr21:46447600-46449400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
37	chr21:46447600-46449800	Weak transcription	Gastric	stomach
38	chr21:46448600-46451000	Enhancers	Fetal Muscle Leg	muscle
39	chr21:46448800-46449400	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr21:46449000-46449200	Enhancers	Fetal Stomach	stomach
41	chr21:46449000-46455800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
42	chr21:46449200-46449400	Enhancers	H9 Cell Line	embryonic stem cell
43	chr21:46449200-46449400	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
44	chr21:46449200-46449400	Enhancers	iPS-20b Cell Line	embryonic stem cell
45	chr21:46449200-46449400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr21:46449200-46449400	Bivalent Enhancer	Fetal Thymus	thymus
47	chr21:46449200-46449400	Enhancers	Stomach Smooth Muscle	stomach
48	chr21:46449200-46449400	Bivalent Enhancer	K562	blood
49	chr21:46449200-46449600	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr21:46449200-46449600	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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