Variant report

Variant	esv3449507
Chromosome Location	chr21:45022824-45026922
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:45024177..45026924-chr21:45138314..45140711,3	MCF-7	breast:
2	chr21:45006194..45009142-chr21:45021772..45023850,3	MCF-7	breast:
3	chr21:44846502..44848207-chr21:45022437..45025863,3	MCF-7	breast:
4	chr21:44921368..44924972-chr21:45021207..45026616,5	MCF-7	breast:
5	chr21:45006048..45008566-chr21:45024329..45026628,2	MCF-7	breast:
6	chr21:44934187..44937130-chr21:45020979..45023437,3	MCF-7	breast:
7	chr21:45009805..45012198-chr21:45024361..45026780,3	MCF-7	breast:
8	chr21:45024840..45027309-chr21:45029580..45031203,2	MCF-7	breast:
9	chr21:45021063..45023504-chr21:45029932..45031964,2	MCF-7	breast:
10	chr21:44845988..44848320-chr21:45024628..45026638,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000142178	chromatin interactions
ENSG00000160209	chromatin interactions

Extended variants
information (count: 194 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:194 , 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	rs556623155	chr21:45022914-45022915	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs575650525	chr21:45022929-45022930	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs144425489	chr21:45022945-45022946	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs535941603	chr21:45022947-45022948	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs547820209	chr21:45022972-45022973	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs565888264	chr21:45023002-45023003	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs73908342	chr21:45023013-45023014	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs558132761	chr21:45023076-45023077	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs570313500	chr21:45023077-45023078	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs141443931	chr21:45023100-45023101	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs555539265	chr21:45023111-45023112	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs191692348	chr21:45023112-45023113	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs142755844	chr21:45023156-45023157	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs562711715	chr21:45023194-45023195	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs530118294	chr21:45023200-45023201	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs2838328	chr21:45023234-45023235	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs566811729	chr21:45023264-45023265	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs557623258	chr21:45023286-45023287	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs112082523	chr21:45023306-45023307	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs2838329	chr21:45023329-45023330	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs564249150	chr21:45023330-45023331	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs184044862	chr21:45023348-45023349	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs111439593	chr21:45023353-45023354	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs188731398	chr21:45023404-45023405	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs543680572	chr21:45023470-45023471	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs181450061	chr21:45023573-45023574	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs529410066	chr21:45023597-45023598	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs547883092	chr21:45023671-45023672	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs151034833	chr21:45023693-45023694	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs533206813	chr21:45023745-45023746	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs552124090	chr21:45023749-45023750	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs140962001	chr21:45023800-45023801	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs185359112	chr21:45023844-45023845	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs76638736	chr21:45023847-45023848	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs2838330	chr21:45023876-45023877	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs114280438	chr21:45023896-45023897	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs17004507	chr21:45023941-45023942	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs553616881	chr21:45023945-45023946	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs190601566	chr21:45023954-45023955	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs545524867	chr21:45023968-45023969	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs557723841	chr21:45024045-45024046	Genic enhancers Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs529862396	chr21:45024052-45024053	Genic enhancers Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs543694578	chr21:45024095-45024096	Genic enhancers Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs73367817	chr21:45024102-45024103	Genic enhancers Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs529064449	chr21:45024123-45024124	Genic enhancers Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs112165982	chr21:45024128-45024129	Genic enhancers Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs559619286	chr21:45024132-45024133	Genic enhancers Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs533464162	chr21:45024153-45024154	Genic enhancers Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs574065146	chr21:45024179-45024180	Genic enhancers Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs551527177	chr21:45024183-45024184	Genic enhancers Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:97)

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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:205 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:44995000-45024200	Weak transcription	Fetal Brain Male	brain
2	chr21:45006200-45023000	Weak transcription	Right Atrium	heart
3	chr21:45006200-45024000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr21:45013800-45025000	Enhancers	Placenta Amnion	Placenta Amnion
5	chr21:45016200-45025000	Enhancers	HMEC	breast
6	chr21:45016400-45024200	Enhancers	HSMM	muscle
7	chr21:45016400-45024400	Enhancers	Osteobl	bone
8	chr21:45016400-45026600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr21:45017200-45024000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr21:45017200-45029000	Weak transcription	Fetal Intestine Small	intestine
11	chr21:45017600-45024200	Enhancers	NHEK	skin
12	chr21:45018000-45024400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr21:45018400-45024600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr21:45019000-45023400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr21:45019000-45024400	Enhancers	Muscle Satellite Cultured Cells	--
16	chr21:45019000-45026600	Enhancers	Fetal Thymus	thymus
17	chr21:45019200-45023600	Weak transcription	Fetal Stomach	stomach
18	chr21:45020000-45024600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr21:45020200-45024400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr21:45020400-45028000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr21:45020600-45024400	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr21:45021000-45024800	Enhancers	A549	lung
23	chr21:45021200-45023400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr21:45021200-45023800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr21:45021200-45024200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr21:45021200-45030600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr21:45021400-45027000	Enhancers	HSMMtube	muscle
28	chr21:45021400-45029400	Weak transcription	Fetal Brain Female	brain
29	chr21:45021800-45025200	Enhancers	Thymus	Thymus
30	chr21:45022000-45023200	Weak transcription	NHDF-Ad	bronchial
31	chr21:45022200-45024200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr21:45022200-45024200	Enhancers	Fetal Muscle Leg	muscle
33	chr21:45022200-45024400	Enhancers	Left Ventricle	heart
34	chr21:45022200-45024400	Enhancers	NH-A	brain
35	chr21:45022200-45024600	Enhancers	Primary hematopoietic stem cells short term culture	blood
36	chr21:45022200-45024800	Enhancers	Adipose Nuclei	Adipose
37	chr21:45022200-45025000	Enhancers	Skeletal Muscle Male	skeletal muscle
38	chr21:45022200-45025000	Enhancers	Skeletal Muscle Female	skeletal muscle
39	chr21:45022400-45023600	Enhancers	Psoas Muscle	Psoas
40	chr21:45022400-45024000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr21:45022400-45025800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr21:45022600-45023000	Weak transcription	NHLF	lung
43	chr21:45022600-45023200	Weak transcription	Lung	lung
44	chr21:45022600-45023400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr21:45022600-45024400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
46	chr21:45022600-45025000	Enhancers	Right Ventricle	heart
47	chr21:45022600-45025200	Enhancers	Primary monocytes fromperipheralblood	blood
48	chr21:45022800-45024600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr21:45023000-45023200	Enhancers	Fetal Lung	lung
50	chr21:45023000-45023200	Enhancers	Monocytes-CD14+_RO01746	blood

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