Variant report

Variant	esv3427724
Chromosome Location	chr21:44803524-44806822
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:44802031..44804189-chr21:44807658..44809517,2	MCF-7	breast:
2	chr21:44784945..44787524-chr21:44806309..44807951,2	MCF-7	breast:
3	chr21:44804088..44806777-chr21:44809162..44811589,2	K562	blood:
4	chr21:44801294..44803832-chr21:44814842..44816860,2	MCF-7	breast:
5	chr21:44806720..44808933-chr21:44820146..44822747,2	K562	blood:
6	chr21:44801690..44804651-chr21:44845741..44847984,2	MCF-7	breast:
7	chr21:44780389..44782566-chr21:44805407..44807925,2	MCF-7	breast:
8	chr21:44803166..44805208-chr21:44860912..44863687,2	MCF-7	breast:
9	chr21:44774210..44776288-chr21:44801380..44803823,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000237989	chromatin interactions
ENSG00000142178	chromatin interactions

Extended variants
information (count: 190 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:190 , 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	rs113929708	chr21:44803540-44803541	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs542931271	chr21:44803544-44803545	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs561126021	chr21:44803552-44803553	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs186322788	chr21:44803555-44803556	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs528390089	chr21:44803561-44803562	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs373178136	chr21:44803575-44803576	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs377759926	chr21:44803579-44803580	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs189601182	chr21:44803609-44803610	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs371089924	chr21:44803617-44803618	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs562141640	chr21:44803629-44803630	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs375395559	chr21:44803663-44803664	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs111899220	chr21:44803664-44803665	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs73906524	chr21:44803685-44803686	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs182733941	chr21:44803698-44803699	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs376767650	chr21:44803701-44803702	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs73906525	chr21:44803711-44803712	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs371028460	chr21:44803746-44803747	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs374873139	chr21:44803759-44803760	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs567027118	chr21:44803770-44803771	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs534524904	chr21:44803778-44803779	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs369178565	chr21:44803799-44803800	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs372457833	chr21:44803816-44803817	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs2838292	chr21:44803821-44803822	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs187707053	chr21:44803822-44803823	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs565340920	chr21:44803823-44803824	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs549394619	chr21:44803855-44803856	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs79610627	chr21:44803876-44803877	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs111473701	chr21:44803879-44803880	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs564696930	chr21:44803880-44803881	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs367954740	chr21:44803908-44803909	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs115428756	chr21:44803929-44803930	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs371417987	chr21:44803945-44803946	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs559015321	chr21:44803973-44803974	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs541934867	chr21:44803974-44803975	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs191374082	chr21:44804001-44804002	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs540550926	chr21:44804009-44804010	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs564930665	chr21:44804035-44804036	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs532377504	chr21:44804036-44804037	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs183205833	chr21:44804056-44804057	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs373697495	chr21:44804082-44804083	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs530159736	chr21:44804119-44804120	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs548146409	chr21:44804126-44804127	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs560570738	chr21:44804153-44804154	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs567976878	chr21:44804156-44804157	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs527954120	chr21:44804157-44804158	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs187374434	chr21:44804195-44804196	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs528802557	chr21:44804205-44804206	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs144609544	chr21:44804224-44804225	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs369867801	chr21:44804227-44804228	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs857544	chr21:44804247-44804248	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:96)

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
Hodgkin''s lymphoma	18641027	CNVD
Breast cancer	21858162	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	17899364	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	20473283	CNVD
Chordoma	18071362	CNVD
Breast cancer	21364760	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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Prostate cancer	18632612	CNVD
Neuroblastoma	20406844	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
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:169 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:44790600-44830800	Weak transcription	Right Atrium	heart
2	chr21:44795400-44814200	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr21:44798400-44805600	Enhancers	Primary B cells from peripheral blood	blood
4	chr21:44799000-44804400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
5	chr21:44799200-44805000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
6	chr21:44799600-44804000	Enhancers	Fetal Muscle Leg	muscle
7	chr21:44800200-44808400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr21:44800400-44814200	Weak transcription	Hela-S3	cervix
9	chr21:44800600-44804600	Enhancers	Primary B cells from cord blood	blood
10	chr21:44800600-44805000	Weak transcription	Fetal Brain Female	brain
11	chr21:44800800-44804600	Enhancers	Primary hematopoietic stem cells	blood
12	chr21:44802000-44803800	Enhancers	Fetal Lung	lung
13	chr21:44802000-44804000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr21:44802200-44803800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr21:44802200-44803800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr21:44802200-44803800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
17	chr21:44802200-44803800	Enhancers	Fetal Heart	heart
18	chr21:44802200-44803800	Bivalent Enhancer	Fetal Stomach	stomach
19	chr21:44802200-44804400	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr21:44802400-44803600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
21	chr21:44802400-44803600	Weak transcription	Spleen	Spleen
22	chr21:44802400-44803800	Enhancers	Brain Substantia Nigra	brain
23	chr21:44802400-44805000	Enhancers	Primary T helper cells fromperipheralblood	blood
24	chr21:44802600-44803600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr21:44802600-44803800	Enhancers	Fetal Intestine Small	intestine
26	chr21:44802600-44803800	Enhancers	Left Ventricle	heart
27	chr21:44802600-44803800	Enhancers	Small Intestine	intestine
28	chr21:44802600-44804000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr21:44802600-44804000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr21:44802600-44804000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr21:44802600-44804000	Bivalent Enhancer	Stomach Mucosa	stomach
32	chr21:44802600-44804000	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
33	chr21:44802600-44804600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr21:44802600-44805000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
35	chr21:44802600-44805200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
36	chr21:44802600-44806600	Enhancers	Fetal Thymus	thymus
37	chr21:44802600-44810000	Enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr21:44802800-44803600	Enhancers	Primary monocytes fromperipheralblood	blood
39	chr21:44802800-44803800	Enhancers	Colonic Mucosa	Colon
40	chr21:44802800-44803800	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
41	chr21:44802800-44804400	Enhancers	ES-I3 Cell Line	embryonic stem cell
42	chr21:44802800-44805000	Enhancers	Primary T helper naive cells from peripheral blood	blood
43	chr21:44802800-44805200	Enhancers	Primary T helper cells PMA-I stimulated	--
44	chr21:44803000-44803600	Active TSS	HUES64 Cell Line	embryonic stem cell
45	chr21:44803000-44803600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
46	chr21:44803000-44803800	Flanking Active TSS	H1 Cell Line	embryonic stem cell
47	chr21:44803000-44803800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr21:44803000-44803800	Active TSS	iPS-20b Cell Line	embryonic stem cell
49	chr21:44803000-44803800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
50	chr21:44803000-44803800	Enhancers	Primary T regulatory cells fromperipheralblood	blood

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