Variant report

Variant	esv3338781
Chromosome Location	chr21:40738432-40739480
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:40724374..40726508-chr21:40737190..40738809,2	MCF-7	breast:
2	chr21:40736966..40739298-chr21:40749576..40752274,3	MCF-7	breast:
3	chr21:40685768..40688318-chr21:40736102..40738778,3	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-WRB-1	chr21:40739091-40739288	XLOC_013943
2	lnc-WRB-1	chr21:40739090-40739288	NONHSAT082181
3	lnc-WRB-1	chr21:40739091-40739288	NONHSAT082182

Variant related genes	Relation type
ENSG00000238141	chromatin interactions
ENSG00000255568	chromatin interactions
ENSG00000182093	chromatin interactions
DNAJC30	miRNA target sites

Extended variants
information (count: 30 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:30 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs533852299	chr21:40738438-40738439	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs540687223	chr21:40738474-40738475	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs113177814	chr21:40738493-40738494	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs529227695	chr21:40738494-40738495	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs12106311	chr21:40738620-40738621	Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs147817495	chr21:40738637-40738638	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs530674408	chr21:40738708-40738709	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs185411705	chr21:40738755-40738756	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs71316134	chr21:40738776-40738777	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs71316135	chr21:40738794-40738795	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs116383830	chr21:40738825-40738826	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs142451972	chr21:40738880-40738881	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs76129356	chr21:40738881-40738882	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs546655583	chr21:40739036-40739037	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs191591723	chr21:40739037-40739038	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs535435976	chr21:40739042-40739043	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs147843943	chr21:40739043-40739044	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs182562446	chr21:40739048-40739049	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs538502719	chr21:40739050-40739051	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs558083693	chr21:40739056-40739057	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs117813403	chr21:40739080-40739081	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs187692587	chr21:40739143-40739144	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
23	rs141487616	chr21:40739178-40739179	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
24	rs190840302	chr21:40739241-40739242	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
25	rs542619269	chr21:40739279-40739280	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
26	rs562493107	chr21:40739315-40739316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs146980364	chr21:40739316-40739317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs553333110	chr21:40739363-40739364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs138038610	chr21:40739365-40739366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs7281347	chr21:40739474-40739475	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40736600-40741600	Weak transcription	K562	blood
2	chr21:40736800-40741800	Weak transcription	Primary hematopoietic stem cells	blood
3	chr21:40737000-40741200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr21:40737400-40741800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr21:40738200-40740000	Weak transcription	Primary neutrophils fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links