Variant report

Variant	nsv962678
Chromosome Location	chr21:40668786-40670410
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:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:2)

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:13882636..13884663-chr21:40666382..40669101,2	K562	blood:
2	chr21:40660582..40664374-chr21:40667695..40671151,4	MCF-7	breast:
3	chr21:40666937..40669991-chr21:40672116..40674107,3	MCF-7	breast:
4	chr21:40668296..40669992-chr21:40678058..40680619,2	K562	blood:
5	chr21:40668014..40669940-chr21:40681557..40684495,2	K562	blood:

No data

(count:2 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	BRWD1	hsa-miR-15a-5p	chr21:40669078-40669100
2	BRWD1	hsa-miR-192-5p	chr21:40669023-40669043

Extended variants
information (count: 52 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:52 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs187842194	chr21:40668810-40668811	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs192641648	chr21:40668839-40668840	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs532521473	chr21:40668854-40668855	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs565784404	chr21:40668872-40668873	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs534381319	chr21:40668880-40668881	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs554554688	chr21:40668884-40668885	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs574349971	chr21:40668886-40668887	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs537722631	chr21:40668909-40668910	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs544607025	chr21:40668940-40668941	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs77471089	chr21:40668969-40668970	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs184515150	chr21:40668996-40668997	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs546439612	chr21:40669008-40669009	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs559655635	chr21:40669023-40669024	Weak transcription Strong transcription Genic enhancers Enhancers	miRNA target site	1 gene(s)	Overlapped CNVs	n/a
14	rs528593831	chr21:40669057-40669058	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs13625	chr21:40669083-40669084	Weak transcription Strong transcription Genic enhancers Enhancers	miRNA target site	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs138335002	chr21:40669112-40669113	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs368391678	chr21:40669123-40669124	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs188875334	chr21:40669133-40669134	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs530803465	chr21:40669184-40669185	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs549693657	chr21:40669268-40669269	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs113610690	chr21:40669296-40669297	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs2142117	chr21:40669305-40669306	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs149227177	chr21:40669309-40669310	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs552358993	chr21:40669311-40669312	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs143328616	chr21:40669384-40669385	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs534764023	chr21:40669385-40669386	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs193161764	chr21:40669459-40669460	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs568099194	chr21:40669593-40669594	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs537018751	chr21:40669595-40669596	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs148362398	chr21:40669642-40669643	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs577625738	chr21:40669765-40669766	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs184607793	chr21:40669811-40669812	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs553533500	chr21:40669846-40669847	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs35601882	chr21:40669864-40669865	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs34541780	chr21:40669881-40669882	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs1984748	chr21:40669898-40669899	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs73903912	chr21:40669959-40669960	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs562026209	chr21:40669963-40669964	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs11701857	chr21:40669976-40669977	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs371575638	chr21:40670013-40670014	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs71316670	chr21:40670086-40670087	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs180781034	chr21:40670147-40670148	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs185203534	chr21:40670151-40670152	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs2836979	chr21:40670167-40670168	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs138191164	chr21:40670193-40670194	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs189315619	chr21:40670221-40670222	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs181735124	chr21:40670225-40670226	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs548296436	chr21:40670227-40670228	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs568180305	chr21:40670237-40670238	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs374712682	chr21:40670274-40670275	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	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:199 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40641400-40683800	Strong transcription	Placenta	Placenta
2	chr21:40643800-40684200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr21:40646600-40683400	Weak transcription	Fetal Brain Male	brain
4	chr21:40650200-40671600	Weak transcription	Aorta	Aorta
5	chr21:40651400-40671600	Weak transcription	Pancreas	Pancrea
6	chr21:40655000-40669400	Strong transcription	NHDF-Ad	bronchial
7	chr21:40655000-40676800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr21:40655000-40683000	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr21:40655400-40683200	Strong transcription	Dnd41	blood
10	chr21:40655600-40671800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr21:40655800-40671800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
12	chr21:40655800-40672200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr21:40655800-40672800	Strong transcription	Primary monocytes fromperipheralblood	blood
14	chr21:40655800-40673800	Strong transcription	HUES48 Cell Line	embryonic stem cell
15	chr21:40655800-40677400	Strong transcription	Duodenum Mucosa	Duodenum
16	chr21:40655800-40677400	Strong transcription	Fetal Thymus	thymus
17	chr21:40656000-40669400	Strong transcription	Primary neutrophils fromperipheralblood	blood
18	chr21:40656200-40672400	Strong transcription	Liver	Liver
19	chr21:40656200-40672600	Strong transcription	HUES6 Cell Line	embryonic stem cell
20	chr21:40656200-40674200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
21	chr21:40656400-40670200	Strong transcription	Primary T helper cells fromperipheralblood	blood
22	chr21:40656400-40675400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr21:40656400-40676600	Strong transcription	Cortex derived primary cultured neurospheres	brain
24	chr21:40656400-40676800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr21:40656400-40683800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr21:40656600-40671600	Strong transcription	Primary T cells fromperipheralblood	blood
27	chr21:40658800-40669000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr21:40658800-40670600	Strong transcription	Rectal Mucosa Donor 31	rectum
29	chr21:40658800-40672000	Strong transcription	Primary B cells from peripheral blood	blood
30	chr21:40658800-40672000	Strong transcription	Adipose Nuclei	Adipose
31	chr21:40659000-40673600	Strong transcription	Hela-S3	cervix
32	chr21:40659200-40674600	Strong transcription	K562	blood
33	chr21:40659400-40669800	Strong transcription	H1 Cell Line	embryonic stem cell
34	chr21:40659600-40670800	Strong transcription	HepG2	liver
35	chr21:40659600-40671800	Strong transcription	Fetal Muscle Leg	muscle
36	chr21:40659600-40676800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr21:40659600-40676800	Strong transcription	Rectal Mucosa Donor 29	rectum
38	chr21:40659800-40669000	Strong transcription	Primary T helper naive cells from peripheral blood	blood
39	chr21:40659800-40669400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr21:40659800-40672800	Strong transcription	NH-A	brain
41	chr21:40660000-40669400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr21:40661200-40669000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr21:40661400-40669000	Weak transcription	Brain Angular Gyrus	brain
44	chr21:40661800-40683400	Weak transcription	Stomach Mucosa	stomach
45	chr21:40662000-40672200	Strong transcription	Fetal Muscle Trunk	muscle
46	chr21:40662200-40669000	Strong transcription	Primary T helper cells PMA-I stimulated	--
47	chr21:40662200-40670000	Strong transcription	Thymus	Thymus
48	chr21:40662400-40668800	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
49	chr21:40662400-40669000	Strong transcription	Fetal Intestine Large	intestine
50	chr21:40662400-40675400	Strong transcription	Osteobl	bone

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