Variant report

Variant	esv3361528
Chromosome Location	chr21:45393774-45396272
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:38)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:38 , 50 per page) page: 1

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

No data

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

Extended variants
information (count: 122 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:122 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs538327445	chr21:45393825-45393826	Weak transcription Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs556998091	chr21:45393841-45393842	Weak transcription Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs575031794	chr21:45393849-45393850	Weak transcription Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs535348090	chr21:45393895-45393896	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs562796694	chr21:45393915-45393916	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs542805223	chr21:45393943-45393944	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs370697930	chr21:45393978-45393979	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs114783262	chr21:45393995-45393996	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs558069403	chr21:45394001-45394002	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs67020829	chr21:45394025-45394026	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs369847969	chr21:45394047-45394048	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs75087321	chr21:45394048-45394049	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs544306022	chr21:45394061-45394062	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs562953504	chr21:45394064-45394065	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs201584950	chr21:45394100-45394101	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs398121679	chr21:45394103-45394104	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs186688877	chr21:45394156-45394157	Weak transcription Strong transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs116763834	chr21:45394220-45394221	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs199943092	chr21:45394298-45394299	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs138349604	chr21:45394299-45394300	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs567472169	chr21:45394304-45394305	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs528340415	chr21:45394327-45394328	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs552670988	chr21:45394345-45394346	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs546895765	chr21:45394370-45394371	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs539685364	chr21:45394376-45394377	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs367745751	chr21:45394381-45394382	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs571480780	chr21:45394388-45394389	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs570862935	chr21:45394425-45394426	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs575245082	chr21:45394429-45394430	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs376097337	chr21:45394433-45394434	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs371869848	chr21:45394436-45394437	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs570851088	chr21:45394441-45394442	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs370652501	chr21:45394448-45394449	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs538614781	chr21:45394458-45394459	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs375682933	chr21:45394505-45394506	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs563538837	chr21:45394522-45394523	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs556599969	chr21:45394529-45394530	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs568610278	chr21:45394543-45394544	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs116634969	chr21:45394550-45394551	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs554705341	chr21:45394556-45394557	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs371178945	chr21:45394572-45394573	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs369207137	chr21:45394575-45394576	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs191557440	chr21:45394634-45394635	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs78934178	chr21:45394717-45394718	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs574743960	chr21:45394722-45394723	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs540539551	chr21:45394740-45394741	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs78664862	chr21:45394804-45394805	ZNF genes & repeats Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs114181736	chr21:45394849-45394850	ZNF genes & repeats Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs544584679	chr21:45394881-45394882	ZNF genes & repeats Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs562916561	chr21:45394888-45394889	ZNF genes & repeats Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:101)

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

Chromatin state (count:282 , 50 per page) page: 1 2 3 4 5 6

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	chr21:45379000-45406000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr21:45379600-45405000	Weak transcription	NHDF-Ad	bronchial
14	chr21:45380200-45395000	Weak transcription	HMEC	breast
15	chr21:45380400-45399000	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr21:45381600-45400800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr21:45381800-45395000	Weak transcription	Fetal Kidney	kidney
18	chr21:45382000-45402600	Weak transcription	Small Intestine	intestine
19	chr21:45383200-45405400	Weak transcription	Primary hematopoietic stem cells	blood
20	chr21:45383200-45405400	Weak transcription	Hela-S3	cervix
21	chr21:45383400-45398000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr21:45383400-45405200	Weak transcription	HUVEC	blood vessel
23	chr21:45384200-45393800	Strong transcription	Sigmoid Colon	Sigmoid Colon
24	chr21:45384600-45393800	Strong transcription	Fetal Intestine Large	intestine
25	chr21:45384800-45393800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr21:45385000-45393800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr21:45385000-45393800	Strong transcription	Thymus	Thymus
28	chr21:45385200-45394000	Strong transcription	Pancreas	Pancrea
29	chr21:45386000-45393800	Strong transcription	Esophagus	oesophagus
30	chr21:45386200-45393800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr21:45386200-45393800	Strong transcription	Left Ventricle	heart
32	chr21:45386600-45393800	Strong transcription	Brain Germinal Matrix	brain
33	chr21:45386800-45394000	Strong transcription	Rectal Mucosa Donor 29	rectum
34	chr21:45387000-45393800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr21:45387600-45401400	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr21:45387800-45393800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr21:45389400-45394800	Weak transcription	Brain Angular Gyrus	brain
38	chr21:45389600-45401200	Weak transcription	Psoas Muscle	Psoas
39	chr21:45390600-45395000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
40	chr21:45390800-45393800	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
41	chr21:45391400-45393800	Strong transcription	Liver	Liver
42	chr21:45391600-45393800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr21:45391600-45394800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr21:45391600-45406800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr21:45391800-45395000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
46	chr21:45391800-45395200	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr21:45391800-45399800	Weak transcription	Primary B cells from cord blood	blood
48	chr21:45392000-45394800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr21:45392000-45395200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr21:45392000-45395200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links