Variant report

Variant	nsv587869
Chromosome Location	chr21:47342116-47345060
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:20)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:47300119..47302715-chr21:47341992..47344397,3	MCF-7	breast:
2	chr21:47267610..47268453-chr21:47342093..47343648,5	MCF-7	breast:
3	chr21:47242790..47243479-chr21:47342941..47343666,2	MCF-7	breast:
4	chr21:47299971..47300594-chr21:47342907..47343695,3	MCF-7	breast:
5	chr21:47338168..47340965-chr21:47341072..47342617,2	K562	blood:
6	chr21:47267694..47268408-chr21:47342147..47343416,5	MCF-7	breast:
7	chr21:47336465..47338261-chr21:47339874..47342406,2	K562	blood:
8	chr21:47329285..47331470-chr21:47342066..47344987,2	MCF-7	breast:
9	chr21:47342692..47343850-chr21:47390349..47391235,3	MCF-7	breast:
10	chr21:47188474..47189148-chr21:47343010..47343629,2	MCF-7	breast:
11	chr21:46961904..46964259-chr21:47343378..47345048,2	MCF-7	breast:
12	chr21:47328644..47331016-chr21:47340908..47343121,3	MCF-7	breast:
13	chr21:47300028..47300909-chr21:47342650..47343811,5	MCF-7	breast:
14	chr21:47240289..47241171-chr21:47342639..47343656,4	MCF-7	breast:
15	chr21:47300090..47300627-chr21:47342032..47342538,2	MCF-7	breast:
16	chr21:47240324..47241096-chr21:47342788..47343697,3	MCF-7	breast:
17	chr21:47343400..47344981-chr21:47348595..47351578,2	MCF-7	breast:
18	chr21:47286434..47288542-chr21:47340592..47343360,3	MCF-7	breast:
19	chr21:47338875..47340965-chr21:47341117..47343595,2	K562	blood:
20	chr21:46976073..46976581-chr21:47342782..47343760,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000183570	chromatin interactions
ENSG00000173638	chromatin interactions

Extended variants
information (count: 239 )
Associated
traits (count: 36 )

Variant overlapped rSNPs/rCNVs (count:239 , 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	rs2839060	chr21:47342116-47342117	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs189931415	chr21:47342141-47342142	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs368935251	chr21:47342180-47342181	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs530103411	chr21:47342212-47342213	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs548296667	chr21:47342219-47342220	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs567129713	chr21:47342222-47342223	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs534511225	chr21:47342232-47342233	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs417972	chr21:47342274-47342275	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs535393692	chr21:47342296-47342297	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs538088614	chr21:47342382-47342383	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs182397150	chr21:47342395-47342396	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs372778803	chr21:47342400-47342401	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs535380605	chr21:47342416-47342417	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs141957322	chr21:47342447-47342448	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs571984219	chr21:47342455-47342456	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs186727887	chr21:47342494-47342495	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs116796323	chr21:47342512-47342513	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs1783075	chr21:47342522-47342523	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs563876553	chr21:47342570-47342571	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs543300726	chr21:47342608-47342609	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs370939236	chr21:47342609-47342610	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs577409156	chr21:47342623-47342624	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs543213950	chr21:47342677-47342678	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs146334631	chr21:47342678-47342679	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs548528838	chr21:47342689-47342690	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs560495797	chr21:47342737-47342738	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs563555515	chr21:47342747-47342748	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs112132451	chr21:47342786-47342787	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs552887252	chr21:47342787-47342788	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs571201710	chr21:47342790-47342791	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs538429259	chr21:47342793-47342794	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs550108323	chr21:47342821-47342822	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs375779743	chr21:47342850-47342851	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs535222780	chr21:47342890-47342891	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs553481137	chr21:47342891-47342892	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs201918936	chr21:47342892-47342893	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs10532807	chr21:47342893-47342894	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs80219893	chr21:47342895-47342896	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs199835623	chr21:47342897-47342898	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs549333437	chr21:47342944-47342945	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs192783317	chr21:47342945-47342946	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs117551748	chr21:47342946-47342947	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs144324215	chr21:47342973-47342974	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs184699003	chr21:47342974-47342975	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs551896623	chr21:47342977-47342978	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs576262643	chr21:47342984-47342985	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs543563490	chr21:47342985-47342986	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs114895946	chr21:47342992-47342993	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs9978439	chr21:47343022-47343023	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs148764861	chr21:47343023-47343024	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	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:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:47308000-47343000	Weak transcription	Right Atrium	heart
2	chr21:47330800-47342200	Weak transcription	Brain Hippocampus Middle	brain
3	chr21:47333600-47351600	Weak transcription	Gastric	stomach
4	chr21:47336800-47342600	Weak transcription	Fetal Thymus	thymus
5	chr21:47339600-47343600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr21:47339800-47343000	Weak transcription	Spleen	Spleen
7	chr21:47340000-47354800	Weak transcription	Primary T cells from cord blood	blood
8	chr21:47340200-47342600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr21:47340600-47342200	Enhancers	Muscle Satellite Cultured Cells	--
10	chr21:47340800-47342600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr21:47340800-47342800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr21:47340800-47343000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr21:47341000-47342600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr21:47341800-47342200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
15	chr21:47341800-47342800	Enhancers	NHLF	lung
16	chr21:47341800-47343200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
17	chr21:47341800-47343600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
18	chr21:47341800-47343600	Enhancers	Primary T helper cells PMA-I stimulated	--
19	chr21:47341800-47343600	Enhancers	Primary T helper cells fromperipheralblood	blood
20	chr21:47341800-47343600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
21	chr21:47341800-47343600	Enhancers	Fetal Muscle Leg	muscle
22	chr21:47342200-47342400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr21:47342200-47342600	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr21:47342200-47343600	Enhancers	Brain Hippocampus Middle	brain
25	chr21:47342400-47342600	Enhancers	Brain Inferior Temporal Lobe	brain
26	chr21:47342400-47343600	Enhancers	Primary T helper naive cells from peripheral blood	blood
27	chr21:47342400-47343600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
28	chr21:47342400-47343600	Enhancers	Brain Cingulate Gyrus	brain
29	chr21:47342600-47342800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr21:47342600-47343000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
31	chr21:47342600-47343200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr21:47342600-47343200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
33	chr21:47342600-47343200	Enhancers	Muscle Satellite Cultured Cells	--
34	chr21:47342600-47343200	Enhancers	Brain Anterior Caudate	brain
35	chr21:47342600-47343200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
36	chr21:47342600-47343200	ZNF genes & repeats	Fetal Thymus	thymus
37	chr21:47342600-47343200	Enhancers	NHDF-Ad	bronchial
38	chr21:47342600-47343600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr21:47342600-47343600	Enhancers	Primary T killer memory cells from peripheral blood	blood
40	chr21:47342600-47343600	Enhancers	HSMM	muscle
41	chr21:47342600-47343800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr21:47342600-47344200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr21:47342800-47343200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
44	chr21:47342800-47343200	Enhancers	Fetal Kidney	kidney
45	chr21:47342800-47343200	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
46	chr21:47342800-47343400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr21:47342800-47343400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr21:47342800-47343600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
49	chr21:47342800-47343600	Enhancers	Brain Angular Gyrus	brain
50	chr21:47342800-47343600	Enhancers	Brain Substantia Nigra	brain

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