Variant report

Variant	esv2626960
Chromosome Location	chr21:40343696-40345353
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:40344289..40347062-chr21:40348923..40350988,2	K562	blood:
2	chr21:40336344..40340139-chr21:40341123..40345538,8	MCF-7	breast:
3	chr21:40342600..40345355-chr21:40346523..40348045,2	MCF-7	breast:
4	chr21:40340916..40342496-chr21:40344097..40345600,2	K562	blood:
5	chr21:39996865..39999462-chr21:40343596..40346422,2	MCF-7	breast:
6	chr21:40342214..40345629-chr21:40350907..40355003,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000232837	chromatin interactions

Extended variants
information (count: 76 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:76 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs533281191	chr21:40343732-40343733	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs74741313	chr21:40343800-40343801	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs555310072	chr21:40343805-40343806	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs575074737	chr21:40343808-40343809	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs544701060	chr21:40343819-40343820	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs182399172	chr21:40343824-40343825	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs557467317	chr21:40343853-40343854	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs186619461	chr21:40343878-40343879	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs373290861	chr21:40343906-40343907	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs2836794	chr21:40343918-40343919	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs559671724	chr21:40343940-40343941	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs573159386	chr21:40343941-40343942	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs538660056	chr21:40343990-40343991	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs377369764	chr21:40344032-40344033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs541281213	chr21:40344040-40344041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs144388573	chr21:40344119-40344120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs549595587	chr21:40344123-40344124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs563031158	chr21:40344177-40344178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs532201693	chr21:40344195-40344196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs111934674	chr21:40344205-40344206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs565627922	chr21:40344223-40344224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs190553266	chr21:40344228-40344229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs115824482	chr21:40344293-40344294	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs143340189	chr21:40344316-40344317	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs58405653	chr21:40344321-40344322	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs542553351	chr21:40344325-40344326	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs60662852	chr21:40344327-40344328	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs528303312	chr21:40344330-40344331	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs58293241	chr21:40344336-40344337	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs58761542	chr21:40344344-40344345	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs57530862	chr21:40344345-40344346	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs573182787	chr21:40344353-40344354	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs541907702	chr21:40344354-40344355	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs554423256	chr21:40344358-40344359	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs574428912	chr21:40344359-40344360	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs187900181	chr21:40344365-40344366	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs563093367	chr21:40344384-40344385	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs532214045	chr21:40344385-40344386	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs545871856	chr21:40344389-40344390	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs559228143	chr21:40344392-40344393	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs528067136	chr21:40344395-40344396	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs548241383	chr21:40344399-40344400	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs568078622	chr21:40344402-40344403	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs531201960	chr21:40344442-40344443	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs551299963	chr21:40344455-40344456	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs191872249	chr21:40344466-40344467	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs184111320	chr21:40344471-40344472	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs187470431	chr21:40344546-40344547	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs539686650	chr21:40344574-40344575	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs192280242	chr21:40344580-40344581	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:71)

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 myeloid leukemia	20729466	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
Breast cancer	21364760	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
Down syndrome	20877625	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cancer	20164920	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Prostate cancer	21147910	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Prostate cancer	17245344	CNVD
Prostate cancer	20473283	CNVD
Chordoma	18071362	CNVD
Breast cancer	22522925	CNVD
T-cell lymphomas	22341440	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40332000-40356800	Weak transcription	Right Atrium	heart
2	chr21:40338400-40351200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr21:40339000-40351200	Weak transcription	Fetal Intestine Small	intestine
4	chr21:40341600-40347000	Weak transcription	Primary hematopoietic stem cells	blood
5	chr21:40341600-40347000	Weak transcription	Dnd41	blood
6	chr21:40341600-40350600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr21:40341800-40347200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr21:40342200-40344000	Enhancers	Spleen	Spleen
9	chr21:40342200-40344000	Enhancers	HUVEC	blood vessel
10	chr21:40342400-40343800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr21:40342400-40343800	Enhancers	Fetal Thymus	thymus
12	chr21:40342400-40344000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr21:40343200-40345000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr21:40343600-40343800	Enhancers	Thymus	Thymus
15	chr21:40343800-40345800	Weak transcription	Fetal Thymus	thymus
16	chr21:40343800-40346200	Weak transcription	Thymus	Thymus
17	chr21:40344000-40348400	Weak transcription	Spleen	Spleen
18	chr21:40345000-40345400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr21:40345200-40346600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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