Variant report

Variant	esv3342248
Chromosome Location	chr21:40881721-40882268
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:40796204..40797983-chr21:40880770..40882689,2	K562	blood:

Variant related genes	Relation type
ENSG00000182093	chromatin interactions

Extended variants
information (count: 28 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs571124308	chr21:40881755-40881756	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs531141726	chr21:40881781-40881782	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs555440603	chr21:40881817-40881818	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs111662243	chr21:40881840-40881841	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs201684798	chr21:40881871-40881872	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs557004661	chr21:40881930-40881931	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs575038191	chr21:40881931-40881932	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs62222774	chr21:40882015-40882016	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs563529636	chr21:40882020-40882021	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs11701140	chr21:40882081-40882082	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs552065702	chr21:40882084-40882085	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs11701208	chr21:40882091-40882092	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs374784066	chr21:40882094-40882095	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs577488210	chr21:40882098-40882099	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs11701337	chr21:40882104-40882105	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs559439870	chr21:40882116-40882117	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs11701190	chr21:40882144-40882145	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs541899438	chr21:40882148-40882149	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs11701232	chr21:40882149-40882150	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs531052610	chr21:40882158-40882159	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs559718710	chr21:40882159-40882160	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs571070499	chr21:40882160-40882161	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs533420193	chr21:40882164-40882165	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs547277693	chr21:40882165-40882166	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs567101470	chr21:40882177-40882178	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs114228604	chr21:40882188-40882189	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs554978324	chr21:40882207-40882208	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs568589910	chr21:40882210-40882211	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
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
Breast cancer	21364760	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:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40836400-40894800	Weak transcription	Right Ventricle	heart
2	chr21:40848200-40895600	Weak transcription	Stomach Smooth Muscle	stomach
3	chr21:40874600-40883000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr21:40874800-40887000	Weak transcription	Aorta	Aorta
5	chr21:40875200-40890400	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr21:40875400-40890200	Weak transcription	Brain Hippocampus Middle	brain
7	chr21:40875400-40890400	Weak transcription	Fetal Lung	lung
8	chr21:40875800-40895200	Weak transcription	Brain Substantia Nigra	brain
9	chr21:40875800-40898600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr21:40876400-40887600	Weak transcription	Left Ventricle	heart
11	chr21:40876400-40894600	Weak transcription	Gastric	stomach
12	chr21:40876400-40897400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr21:40876600-40883000	Weak transcription	Fetal Heart	heart
14	chr21:40876600-40885000	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr21:40877000-40891000	Weak transcription	Pancreas	Pancrea
16	chr21:40877200-40887000	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr21:40877400-40899600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr21:40878200-40889800	Weak transcription	Primary T cells from cord blood	blood
19	chr21:40879000-40882000	Weak transcription	Ovary	ovary
20	chr21:40880200-40899800	Weak transcription	Fetal Muscle Leg	muscle
21	chr21:40880600-40885000	Weak transcription	Psoas Muscle	Psoas
22	chr21:40881400-40883600	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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