Variant report

Variant	nsv828914
Chromosome Location	chr21:47431411-47441563
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:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:47434745..47436631-chr21:47437603..47439853,2	K562	blood:
2	chr21:47421911..47424111-chr21:47437012..47439738,2	K562	blood:
3	chr21:47440752..47442977-chr21:47743162..47745247,3	K562	blood:
4	chr21:47439436..47442196-chr21:47457727..47460452,2	MCF-7	breast:
5	chr21:47427326..47428898-chr21:47432670..47434533,2	K562	blood:
6	chr21:47441279..47443390-chr21:47516030..47518105,2	MCF-7	breast:
7	chr21:47433494..47435597-chr21:47439927..47442873,2	MCF-7	breast:
8	chr21:47434745..47436631-chr21:47437603..47439853,2	K562	blood:
9	chr21:47431779..47433436-chr21:47436567..47438645,2	K562	blood:
10	chr21:47433494..47435597-chr21:47439927..47442873,2	MCF-7	breast:
11	chr21:47436870..47439300-chr21:47518034..47520578,2	MCF-7	breast:
12	chr21:47409518..47412170-chr21:47436887..47438560,2	MCF-7	breast:
13	chr21:47422053..47425475-chr21:47428591..47432005,3	MCF-7	breast:
14	chr21:47431779..47433436-chr21:47436567..47438645,2	K562	blood:
15	chr21:47436259..47437782-chr21:47691002..47692922,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000160294	chromatin interactions
ENSG00000142173	chromatin interactions
ENSG00000142156	chromatin interactions
ENSG00000227438	chromatin interactions
ENSG00000160298	chromatin interactions
ENSG00000160299	chromatin interactions

Extended variants
information (count: 369 )
Associated
traits (count: 36 )

Variant overlapped rSNPs/rCNVs (count:369 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536569336	chr21:47431420-47431421	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs554428570	chr21:47431474-47431475	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs7278350	chr21:47431475-47431476	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs183881750	chr21:47431476-47431477	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs113411386	chr21:47431478-47431479	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs577601650	chr21:47431482-47431483	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs111341664	chr21:47431491-47431492	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs370219029	chr21:47431508-47431509	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs9754084	chr21:47431509-47431510	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs142563676	chr21:47431510-47431511	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs7277812	chr21:47431522-47431523	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs57007601	chr21:47431525-47431526	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs9754245	chr21:47431556-47431557	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs543312169	chr21:47431558-47431559	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs567729107	chr21:47431559-47431560	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs528740810	chr21:47431595-47431596	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs185352727	chr21:47431612-47431613	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs565006421	chr21:47431617-47431618	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs532260564	chr21:47431619-47431620	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs111559956	chr21:47431628-47431629	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs75076539	chr21:47431633-47431634	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs11089038	chr21:47431634-47431635	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs374264681	chr21:47431652-47431653	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs371899279	chr21:47431668-47431669	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs189713737	chr21:47431669-47431670	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs375606628	chr21:47431672-47431673	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs527341180	chr21:47431679-47431680	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs117000284	chr21:47431680-47431681	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs182758145	chr21:47431689-47431690	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs11089039	chr21:47431690-47431691	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs570301635	chr21:47431699-47431700	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs539287184	chr21:47431700-47431701	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs76055525	chr21:47431806-47431807	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs199825585	chr21:47431832-47431833	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs199790802	chr21:47431834-47431835	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs386394883	chr21:47431835-47431836	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs370171599	chr21:47431836-47431837	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs397814021	chr21:47431837-47431838	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs374158654	chr21:47431838-47431839	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs558346893	chr21:47431866-47431867	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs13047753	chr21:47431917-47431918	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs560267515	chr21:47431973-47431974	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs557029555	chr21:47432087-47432088	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs575632218	chr21:47432088-47432089	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs141474356	chr21:47432105-47432106	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs555328503	chr21:47432124-47432125	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs573458548	chr21:47432191-47432192	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs187283146	chr21:47432232-47432233	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs535756870	chr21:47432259-47432260	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs541674648	chr21:47432437-47432438	Weak transcription Enhancers	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:72 , 50 per page) page: 1 2

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	chr21:47425200-47431600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr21:47425200-47431600	Weak transcription	NHDF-Ad	bronchial
7	chr21:47425200-47432400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr21:47425400-47432200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr21:47427600-47431600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr21:47428600-47432000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr21:47428800-47432000	Enhancers	Ovary	ovary
12	chr21:47430600-47431600	Weak transcription	Fetal Lung	lung
13	chr21:47431200-47431600	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr21:47431200-47431800	Enhancers	Lung	lung
15	chr21:47431400-47431600	Enhancers	Right Ventricle	heart
16	chr21:47431400-47432000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr21:47431600-47431800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr21:47431600-47431800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr21:47431600-47431800	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr21:47431600-47432000	Enhancers	Fetal Lung	lung
21	chr21:47431600-47433000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr21:47431600-47433400	Enhancers	NHDF-Ad	bronchial
23	chr21:47431800-47432800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr21:47431800-47437000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr21:47432000-47432800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr21:47432000-47432800	Weak transcription	Ovary	ovary
27	chr21:47432000-47437000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr21:47432200-47433000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr21:47432400-47432600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr21:47432800-47433000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr21:47432800-47433000	Enhancers	Ovary	ovary
32	chr21:47433000-47439600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr21:47433000-47441400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr21:47433400-47441600	Weak transcription	NHDF-Ad	bronchial
35	chr21:47436200-47436400	Enhancers	Esophagus	oesophagus
36	chr21:47437000-47437400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr21:47437000-47438000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr21:47437400-47439600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr21:47438600-47444000	Enhancers	Placenta	Placenta
40	chr21:47438800-47439000	Enhancers	Fetal Lung	lung
41	chr21:47438800-47441400	Enhancers	Colon Smooth Muscle	Colon
42	chr21:47439000-47440600	Weak transcription	Fetal Lung	lung
43	chr21:47439000-47441600	Weak transcription	NHLF	lung
44	chr21:47439600-47439800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr21:47439600-47439800	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr21:47439600-47439800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr21:47439600-47439800	Enhancers	Fetal Muscle Trunk	muscle
48	chr21:47439600-47440000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr21:47439600-47441200	Enhancers	Stomach Smooth Muscle	stomach
50	chr21:47439600-47445800	Enhancers	Fetal Stomach	stomach

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