Variant report

Variant	nsv828915
Chromosome Location	chr21:47432377-47439430
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:47427326..47428898-chr21:47432670..47434533,2	K562	blood:
2	chr21:47431779..47433436-chr21:47436567..47438645,2	K562	blood:
3	chr21:47431779..47433436-chr21:47436567..47438645,2	K562	blood:
4	chr21:47433494..47435597-chr21:47439927..47442873,2	MCF-7	breast:
5	chr21:47409518..47412170-chr21:47436887..47438560,2	MCF-7	breast:
6	chr21:47434745..47436631-chr21:47437603..47439853,2	K562	blood:
7	chr21:47434745..47436631-chr21:47437603..47439853,2	K562	blood:
8	chr21:47436259..47437782-chr21:47691002..47692922,2	K562	blood:
9	chr21:47436870..47439300-chr21:47518034..47520578,2	MCF-7	breast:
10	chr21:47421911..47424111-chr21:47437012..47439738,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000142173	chromatin interactions
ENSG00000160294	chromatin interactions
ENSG00000142156	chromatin interactions

Extended variants
information (count: 228 )
Associated
traits (count: 36 )

Variant overlapped rSNPs/rCNVs (count:228 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs541674648	chr21:47432437-47432438	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs532064148	chr21:47432464-47432465	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs192893038	chr21:47432551-47432552	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs372738227	chr21:47432552-47432553	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs71318031	chr21:47432653-47432654	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs35998205	chr21:47432659-47432660	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs376993251	chr21:47432670-47432671	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs562342489	chr21:47432680-47432681	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs529723425	chr21:47432692-47432693	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs112992058	chr21:47432730-47432731	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs548066264	chr21:47432771-47432772	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs183623804	chr21:47432773-47432774	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs376685146	chr21:47432860-47432861	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs527604848	chr21:47432915-47432916	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs551908779	chr21:47432925-47432926	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs570325283	chr21:47432928-47432929	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs538746073	chr21:47432950-47432951	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs557472945	chr21:47432982-47432983	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs569134208	chr21:47432984-47432985	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs4818817	chr21:47433055-47433056	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs558317748	chr21:47433113-47433114	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs555017840	chr21:47433169-47433170	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs531253287	chr21:47433190-47433191	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs369895277	chr21:47433191-47433192	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs578107474	chr21:47433223-47433224	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs4818818	chr21:47433229-47433230	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs150375697	chr21:47433241-47433242	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs193107180	chr21:47433298-47433299	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs115053025	chr21:47433352-47433353	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs184564973	chr21:47433368-47433369	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs138149901	chr21:47433386-47433387	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs62211780	chr21:47433459-47433460	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs368952364	chr21:47433463-47433464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs149847223	chr21:47433466-47433467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs532051671	chr21:47433477-47433478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs369825254	chr21:47433491-47433492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs8130733	chr21:47433552-47433553	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs559724170	chr21:47433591-47433592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs527544914	chr21:47433626-47433627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs112926175	chr21:47433714-47433715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs564120424	chr21:47433775-47433776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs149551995	chr21:47433794-47433795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs114678536	chr21:47433815-47433816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs188228562	chr21:47433891-47433892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs191385143	chr21:47433962-47433963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs151286477	chr21:47433984-47433985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs370451445	chr21:47433986-47433987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs62211781	chr21:47433988-47433989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs566881246	chr21:47433989-47433990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs115260705	chr21:47434002-47434003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:36)

Disease	PMID	Source
Down syndrome	17576883	CNVD
Acute promyelocytic leukemia	19109227	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	19156837	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	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
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Autism	18414403	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Breast cancer	17899364	CNVD
Prostate cancer	20473283	CNVD
Chordoma	18071362	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 adenocarcinoma	17086460	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

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:47411200-47432800	Weak transcription	Right Atrium	heart
2	chr21:47422800-47438800	Weak transcription	Colon Smooth Muscle	Colon
3	chr21:47424000-47432800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr21:47424600-47434400	Weak transcription	Aorta	Aorta
5	chr21:47425200-47432400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr21:47431600-47433000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr21:47431600-47433400	Enhancers	NHDF-Ad	bronchial
8	chr21:47431800-47432800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr21:47431800-47437000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr21:47432000-47432800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr21:47432000-47432800	Weak transcription	Ovary	ovary
12	chr21:47432000-47437000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr21:47432200-47433000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr21:47432400-47432600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr21:47432800-47433000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr21:47432800-47433000	Enhancers	Ovary	ovary
17	chr21:47433000-47439600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr21:47433000-47441400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr21:47433400-47441600	Weak transcription	NHDF-Ad	bronchial
20	chr21:47436200-47436400	Enhancers	Esophagus	oesophagus
21	chr21:47437000-47437400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr21:47437000-47438000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr21:47437400-47439600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr21:47438600-47444000	Enhancers	Placenta	Placenta
25	chr21:47438800-47439000	Enhancers	Fetal Lung	lung
26	chr21:47438800-47441400	Enhancers	Colon Smooth Muscle	Colon
27	chr21:47439000-47440600	Weak transcription	Fetal Lung	lung
28	chr21:47439000-47441600	Weak transcription	NHLF	lung

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