Variant report

Variant	esv3343048
Chromosome Location	chr21:45392824-45397222
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:45)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:45 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:45395932..45398037-chr21:45406476..45409180,2	K562	blood:
2	chr21:45358600..45359641-chr21:45394697..45395938,6	MCF-7	breast:
3	chr21:45391777..45394630-chr21:45405827..45408777,2	K562	blood:
4	chr21:45286741..45288311-chr21:45392655..45395411,2	K562	blood:
5	chr21:45358568..45359567-chr21:45394821..45396082,11	MCF-7	breast:
6	chr21:45227991..45230203-chr21:45396778..45398676,2	K562	blood:
7	chr21:45234318..45236275-chr21:45396629..45398423,2	MCF-7	breast:
8	chr21:45395089..45398039-chr21:45405481..45407221,3	MCF-7	breast:
9	chr21:45230307..45231804-chr21:45394981..45396219,10	MCF-7	breast:
10	chr21:45386923..45389189-chr21:45394639..45396449,2	K562	blood:
11	chr21:45394026..45396838-chr21:45529562..45532299,2	K562	blood:
12	chr21:45349394..45350688-chr21:45394837..45395974,5	MCF-7	breast:
13	chr21:45390463..45393290-chr21:45430971..45433661,3	MCF-7	breast:
14	chr21:45230354..45231265-chr21:45395061..45396060,7	K562	blood:
15	chr21:45283111..45285843-chr21:45394745..45397067,2	K562	blood:
16	chr21:45222905..45225247-chr21:45394812..45396880,2	MCF-7	breast:
17	chr21:45393503..45396203-chr21:45397849..45399605,2	MCF-7	breast:
18	chr21:45394072..45397426-chr21:45398939..45402016,4	K562	blood:
19	chr21:45208977..45209500-chr21:45395548..45396148,2	MCF-7	breast:
20	chr21:45396300..45397971-chr21:45431060..45432924,2	MCF-7	breast:
21	chr21:45395087..45395762-chr21:45487025..45487618,2	MCF-7	breast:
22	chr21:45248952..45249750-chr21:45395021..45396037,3	MCF-7	breast:
23	chr21:45389343..45390928-chr21:45392630..45394554,2	K562	blood:
24	chr21:45392942..45395258-chr21:45429589..45432675,3	K562	blood:
25	chr21:45230369..45231282-chr21:45395339..45396518,7	MCF-7	breast:
26	chr21:45208219..45210137-chr21:45395159..45396990,2	K562	blood:
27	chr21:45334786..45336804-chr21:45397178..45399390,2	K562	blood:
28	chr21:45395550..45398275-chr21:45399563..45401306,2	K562	blood:
29	chr21:45229733..45231938-chr21:45394132..45396009,2	K562	blood:
30	chr21:45393130..45395112-chr21:45407277..45409504,2	K562	blood:
31	chr21:45386012..45388707-chr21:45392125..45394514,2	K562	blood:
32	chr21:45283523..45287177-chr21:45394995..45398783,3	MCF-7	breast:
33	chr21:45390476..45393166-chr21:45393440..45395643,4	MCF-7	breast:
34	chr21:45283359..45286168-chr21:45393424..45395438,2	K562	blood:
35	chr21:45227305..45229714-chr21:45393817..45396583,3	K562	blood:
36	chr21:45396457..45398519-chr21:45430379..45433232,2	MCF-7	breast:
37	chr21:45228242..45230563-chr21:45391322..45393859,2	MCF-7	breast:
38	chr21:45388564..45390911-chr21:45397082..45399492,2	K562	blood:
39	chr21:45389540..45391174-chr21:45393124..45394876,2	MCF-7	breast:
40	chr21:45224876..45229128-chr21:45393312..45396699,5	K562	blood:
41	chr21:45224259..45226376-chr21:45393066..45395792,2	K562	blood:
42	chr21:45371594..45373421-chr21:45394016..45396478,2	K562	blood:
43	chr21:45194764..45197470-chr21:45392399..45395050,2	MCF-7	breast:
44	chr21:45365594..45366129-chr21:45395439..45396237,2	MCF-7	breast:
45	chr21:45395932..45398361-chr21:45406476..45408690,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000215458	chromatin interactions
ENSG00000160213	chromatin interactions
ENSG00000160218	chromatin interactions
ENSG00000160216	chromatin interactions
ENSG00000160214	chromatin interactions

Extended variants
information (count: 213 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:213 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3788094	chr21:45392846-45392847	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs76687206	chr21:45392853-45392854	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs183247210	chr21:45392922-45392923	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs3788095	chr21:45392923-45392924	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs555359370	chr21:45392932-45392933	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs573693101	chr21:45392953-45392954	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs577335133	chr21:45392955-45392956	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs528610247	chr21:45393008-45393009	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs188686548	chr21:45393027-45393028	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs559161615	chr21:45393058-45393059	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs533082265	chr21:45393076-45393077	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs3788096	chr21:45393080-45393081	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs556536918	chr21:45393103-45393104	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs116544330	chr21:45393123-45393124	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs574681117	chr21:45393125-45393126	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs376492469	chr21:45393135-45393136	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs531070037	chr21:45393148-45393149	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs549283377	chr21:45393151-45393152	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs193077806	chr21:45393161-45393162	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs528448065	chr21:45393172-45393173	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs541997327	chr21:45393173-45393174	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs77504864	chr21:45393177-45393178	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs564437387	chr21:45393185-45393186	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs141865688	chr21:45393189-45393190	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs572019747	chr21:45393191-45393192	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs539173746	chr21:45393196-45393197	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs185094953	chr21:45393302-45393303	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs145728572	chr21:45393303-45393304	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs373713713	chr21:45393320-45393321	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs555719969	chr21:45393380-45393381	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs574010388	chr21:45393401-45393402	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs534583299	chr21:45393413-45393414	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs533329800	chr21:45393417-45393418	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs577661013	chr21:45393422-45393423	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs545097104	chr21:45393447-45393448	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs9647232	chr21:45393449-45393450	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs78436546	chr21:45393483-45393484	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs115247305	chr21:45393521-45393522	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs73373130	chr21:45393529-45393530	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs111475535	chr21:45393532-45393533	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs7281359	chr21:45393542-45393543	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs546993980	chr21:45393586-45393587	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs531249399	chr21:45393593-45393594	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs56326829	chr21:45393595-45393596	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs551066958	chr21:45393596-45393597	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs569721587	chr21:45393621-45393622	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs372382612	chr21:45393622-45393623	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs537219874	chr21:45393635-45393636	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs117009449	chr21:45393650-45393651	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs376273643	chr21:45393682-45393683	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	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
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
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
Breast cancer	21364760	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
Ewing''s sarcoma	18628472	CNVD
Leukemia	18628472	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
early-passage human iPS cells	21368824	CNVD
small cell lung cancer	17426248	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:368 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45373000-45395200	Strong transcription	Fetal Intestine Small	intestine
2	chr21:45375200-45395400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr21:45377000-45398400	Weak transcription	A549	lung
4	chr21:45377000-45400800	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr21:45378200-45395000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr21:45378200-45403800	Strong transcription	Dnd41	blood
7	chr21:45378400-45395000	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr21:45378600-45394800	Weak transcription	Fetal Brain Male	brain
9	chr21:45378600-45400800	Weak transcription	NH-A	brain
10	chr21:45378800-45395000	Strong transcription	Duodenum Mucosa	Duodenum
11	chr21:45378800-45420200	Weak transcription	Right Atrium	heart
12	chr21:45379000-45393400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr21:45379000-45406000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr21:45379600-45405000	Weak transcription	NHDF-Ad	bronchial
15	chr21:45380200-45395000	Weak transcription	HMEC	breast
16	chr21:45380400-45399000	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr21:45381600-45400800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr21:45381800-45395000	Weak transcription	Fetal Kidney	kidney
19	chr21:45382000-45402600	Weak transcription	Small Intestine	intestine
20	chr21:45383200-45405400	Weak transcription	Primary hematopoietic stem cells	blood
21	chr21:45383200-45405400	Weak transcription	Hela-S3	cervix
22	chr21:45383400-45398000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr21:45383400-45405200	Weak transcription	HUVEC	blood vessel
24	chr21:45384200-45393200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr21:45384200-45393800	Strong transcription	Sigmoid Colon	Sigmoid Colon
26	chr21:45384600-45393000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr21:45384600-45393200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr21:45384600-45393200	Strong transcription	Primary T helper cells fromperipheralblood	blood
29	chr21:45384600-45393400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
30	chr21:45384600-45393800	Strong transcription	Fetal Intestine Large	intestine
31	chr21:45384800-45393800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr21:45385000-45393600	Strong transcription	Adipose Nuclei	Adipose
33	chr21:45385000-45393800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr21:45385000-45393800	Strong transcription	Thymus	Thymus
35	chr21:45385200-45393400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr21:45385200-45393600	Strong transcription	Primary monocytes fromperipheralblood	blood
37	chr21:45385200-45394000	Strong transcription	Pancreas	Pancrea
38	chr21:45385600-45393000	Strong transcription	GM12878-XiMat	blood
39	chr21:45386000-45393400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr21:45386000-45393400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr21:45386000-45393800	Strong transcription	Esophagus	oesophagus
42	chr21:45386200-45393400	Strong transcription	Cortex derived primary cultured neurospheres	brain
43	chr21:45386200-45393800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr21:45386200-45393800	Strong transcription	Left Ventricle	heart
45	chr21:45386400-45393000	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr21:45386600-45393200	Strong transcription	Primary T cells fromperipheralblood	blood
47	chr21:45386600-45393800	Strong transcription	Brain Germinal Matrix	brain
48	chr21:45386800-45393000	Strong transcription	Stomach Smooth Muscle	stomach
49	chr21:45386800-45394000	Strong transcription	Rectal Mucosa Donor 29	rectum
50	chr21:45387000-45393800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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