Variant report

Variant	esv3372072
Chromosome Location	chr21:47486524-47491422
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:47483689..47485600-chr21:47485621..47488078,2	K562	blood:
2	chr21:47447601..47449403-chr21:47486419..47488081,2	K562	blood:
3	chr21:47486054..47488058-chr21:47490628..47493448,2	MCF-7	breast:
4	chr21:47485799..47487872-chr21:47511862..47514238,2	K562	blood:

Variant related genes	Relation type
ENSG00000233767	chromatin interactions

Extended variants
information (count: 399 )
Associated
traits (count: 36 )

Variant overlapped rSNPs/rCNVs (count:399 , 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	rs556112212	chr21:47486532-47486533	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs564948554	chr21:47486556-47486557	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs532637726	chr21:47486559-47486560	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs550877747	chr21:47486607-47486608	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs371224434	chr21:47486611-47486612	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs569418282	chr21:47486633-47486634	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs536474642	chr21:47486696-47486697	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs569583009	chr21:47486772-47486773	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs548261173	chr21:47486774-47486775	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs566484665	chr21:47486807-47486808	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs192937508	chr21:47486829-47486830	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs558539775	chr21:47486846-47486847	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs374365223	chr21:47486907-47486908	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs182561457	chr21:47486928-47486929	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs538106235	chr21:47486953-47486954	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs8131276	chr21:47486961-47486962	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs187598579	chr21:47486978-47486979	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs541705430	chr21:47486983-47486984	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs561424607	chr21:47487091-47487092	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs573217217	chr21:47487099-47487100	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs8126721	chr21:47487151-47487152	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs373875055	chr21:47487181-47487182	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs367785188	chr21:47487182-47487183	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs531798278	chr21:47487186-47487187	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs550840877	chr21:47487191-47487192	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs563084770	chr21:47487194-47487195	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs530302499	chr21:47487268-47487269	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs116694323	chr21:47487277-47487278	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs367976861	chr21:47487287-47487288	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs71670989	chr21:47487303-47487304	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs75252463	chr21:47487307-47487308	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs567056117	chr21:47487318-47487319	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs551844148	chr21:47487424-47487425	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs533845814	chr21:47487426-47487427	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs552319343	chr21:47487441-47487442	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs541188557	chr21:47487472-47487473	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs537871882	chr21:47487473-47487474	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs556493999	chr21:47487501-47487502	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs192278448	chr21:47487554-47487555	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs535752587	chr21:47487597-47487598	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs553640471	chr21:47487613-47487614	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs536796163	chr21:47487638-47487639	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs557987776	chr21:47487643-47487644	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs572219477	chr21:47487669-47487670	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs577996736	chr21:47487673-47487674	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs368280372	chr21:47487674-47487675	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs1777	chr21:47487723-47487724	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs375150608	chr21:47487729-47487730	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs576823057	chr21:47487750-47487751	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs115542933	chr21:47487753-47487754	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	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:143 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:47483000-47488400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr21:47483800-47488600	Enhancers	Fetal Muscle Leg	muscle
3	chr21:47484000-47488400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
4	chr21:47484000-47488400	Enhancers	Placenta	Placenta
5	chr21:47484200-47487000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr21:47484200-47488200	Enhancers	Rectal Smooth Muscle	rectum
7	chr21:47484800-47487200	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
8	chr21:47484800-47487400	Enhancers	Colonic Mucosa	Colon
9	chr21:47484800-47487400	Bivalent Enhancer	Stomach Mucosa	stomach
10	chr21:47484800-47488000	Bivalent Enhancer	Fetal Intestine Large	intestine
11	chr21:47484800-47488200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr21:47484800-47488600	Enhancers	Fetal Stomach	stomach
13	chr21:47484800-47488800	Enhancers	Ovary	ovary
14	chr21:47484800-47489400	Enhancers	Fetal Lung	lung
15	chr21:47485000-47487200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr21:47485000-47487400	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr21:47485000-47487600	Enhancers	Pancreas	Pancrea
18	chr21:47485000-47487600	Enhancers	Rectal Mucosa Donor 31	rectum
19	chr21:47485000-47487800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr21:47485000-47488600	Enhancers	Right Ventricle	heart
21	chr21:47485200-47486600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr21:47485200-47486600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr21:47485200-47486800	Flanking Active TSS	Osteobl	bone
24	chr21:47485200-47487000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr21:47485200-47487200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr21:47485200-47487200	Flanking Active TSS	NHDF-Ad	bronchial
27	chr21:47485200-47487200	Bivalent Enhancer	NHEK	skin
28	chr21:47485200-47487600	Enhancers	HSMMtube	muscle
29	chr21:47485200-47488000	Bivalent Enhancer	Fetal Intestine Small	intestine
30	chr21:47485200-47488000	Enhancers	Placenta Amnion	Placenta Amnion
31	chr21:47485200-47517400	Weak transcription	Right Atrium	heart
32	chr21:47485400-47486800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr21:47485400-47487400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr21:47485400-47488400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr21:47485600-47486600	Enhancers	Liver	Liver
36	chr21:47485600-47487200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr21:47485600-47487200	Enhancers	Fetal Brain Female	brain
38	chr21:47485600-47487800	Enhancers	Left Ventricle	heart
39	chr21:47485800-47487200	Enhancers	Fetal Brain Male	brain
40	chr21:47485800-47487200	Enhancers	Gastric	stomach
41	chr21:47485800-47487400	Enhancers	Muscle Satellite Cultured Cells	--
42	chr21:47485800-47488800	Enhancers	Fetal Heart	heart
43	chr21:47486000-47486800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr21:47486000-47486800	Flanking Active TSS	Colon Smooth Muscle	Colon
45	chr21:47486000-47487200	Enhancers	Primary hematopoietic stem cells short term culture	blood
46	chr21:47486000-47487200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr21:47486000-47487600	Enhancers	NH-A	brain
48	chr21:47486000-47487800	Enhancers	Fetal Muscle Trunk	muscle
49	chr21:47486000-47488000	Enhancers	NHLF	lung
50	chr21:47486000-47488200	Enhancers	Breast Myoepithelial Primary Cells	Breast

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