Variant report

Variant	esv3443228
Chromosome Location	chr21:45635269-45635589
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:45634893..45639040-chr21:45644730..45647153,3	K562	blood:
2	chr21:45633515..45635419-chr21:45641635..45644619,2	MCF-7	breast:
3	chr21:45634893..45639040-chr21:45644730..45647153,4	K562	blood:
4	chr21:45626963..45630289-chr21:45630866..45636096,6	MCF-7	breast:
5	chr21:45633493..45635981-chr21:45638938..45640638,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000232698	chromatin interactions

Extended variants
information (count: 29 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:29 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs376743145	chr21:45635273-45635274	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs142045148	chr21:45635288-45635289	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs146363978	chr21:45635347-45635348	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs549868658	chr21:45635353-45635354	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs562105275	chr21:45635361-45635362	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs9974526	chr21:45635362-45635363	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs547891016	chr21:45635372-45635373	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs1970648	chr21:45635376-45635377	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs2329710	chr21:45635382-45635383	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs533940703	chr21:45635387-45635388	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs377668889	chr21:45635396-45635397	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs183556255	chr21:45635397-45635398	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs1970649	chr21:45635407-45635408	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs1970650	chr21:45635411-45635412	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs555924930	chr21:45635419-45635420	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs574368944	chr21:45635428-45635429	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs535198080	chr21:45635432-45635433	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs1970651	chr21:45635442-45635443	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs1970652	chr21:45635446-45635447	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs62228249	chr21:45635452-45635453	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs7281181	chr21:45635454-45635455	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs193142778	chr21:45635457-45635458	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs184745509	chr21:45635463-45635464	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs112697570	chr21:45635489-45635490	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs564812393	chr21:45635493-45635494	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs552994923	chr21:45635502-45635503	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs544094161	chr21:45635524-45635525	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs13049500	chr21:45635565-45635566	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs561968614	chr21:45635575-45635576	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:100)

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
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
small cell lung cancer	17426248	CNVD
Ependymoma	20639864	CNVD
Breast cancer	21364760	CNVD
Down syndrome	21154855	CNVD

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45627800-45636600	Enhancers	Primary B cells from peripheral blood	blood
2	chr21:45628600-45638600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr21:45628600-45639400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr21:45628600-45659600	Weak transcription	Right Atrium	heart
5	chr21:45628800-45646800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr21:45629000-45638200	Weak transcription	HMEC	breast
7	chr21:45629200-45635800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr21:45629200-45637600	Weak transcription	Stomach Mucosa	stomach
9	chr21:45629600-45637800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr21:45629600-45638000	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr21:45629800-45636200	Weak transcription	Fetal Muscle Leg	muscle
12	chr21:45631200-45638000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr21:45632000-45638000	Weak transcription	Spleen	Spleen
14	chr21:45632200-45640000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr21:45632200-45659600	Weak transcription	Fetal Kidney	kidney
16	chr21:45632400-45636600	Enhancers	GM12878-XiMat	blood
17	chr21:45632600-45635400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr21:45632600-45636800	Weak transcription	Fetal Muscle Trunk	muscle
19	chr21:45632600-45637800	Weak transcription	Fetal Thymus	thymus
20	chr21:45632800-45640400	Weak transcription	Primary T helper cells fromperipheralblood	blood
21	chr21:45632800-45646200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr21:45634000-45638200	Weak transcription	K562	blood
23	chr21:45634600-45636400	Enhancers	Primary B cells from cord blood	blood
24	chr21:45635000-45635600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr21:45635000-45635800	Enhancers	Placenta	Placenta
26	chr21:45635000-45636200	Enhancers	Primary hematopoietic stem cells short term culture	blood
27	chr21:45635200-45635400	Bivalent Enhancer	HepG2	liver
28	chr21:45635200-45636400	Enhancers	Primary hematopoietic stem cells	blood
29	chr21:45635200-45639000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr21:45635200-45639400	Weak transcription	HUVEC	blood vessel
31	chr21:45635400-45635600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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