Variant report

Variant	esv3344405
Chromosome Location	chr21:47344105-47344845
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:47300119..47302715-chr21:47341992..47344397,3	MCF-7	breast:
2	chr21:46961904..46964259-chr21:47343378..47345048,2	MCF-7	breast:
3	chr21:47329285..47331470-chr21:47342066..47344987,2	MCF-7	breast:
4	chr21:47343400..47344981-chr21:47348595..47351578,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000173638	chromatin interactions

Extended variants
information (count: 86 )
Associated
traits (count: 36 )

Variant overlapped rSNPs/rCNVs (count:86 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs576352198	chr21:47344113-47344114	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs75148281	chr21:47344118-47344119	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs562199966	chr21:47344120-47344121	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs71318021	chr21:47344129-47344130	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs71324461	chr21:47344140-47344141	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs78414408	chr21:47344147-47344148	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs377239375	chr21:47344159-47344160	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs113420272	chr21:47344160-47344161	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs374437331	chr21:47344164-47344165	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs529553048	chr21:47344179-47344180	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs377474634	chr21:47344187-47344188	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs201333883	chr21:47344195-47344196	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs373450568	chr21:47344196-47344197	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs113471548	chr21:47344206-47344207	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs113063276	chr21:47344213-47344214	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs143085035	chr21:47344225-47344226	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs112940544	chr21:47344226-47344227	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs80215783	chr21:47344230-47344231	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs569771843	chr21:47344233-47344234	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs74671097	chr21:47344250-47344251	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs77289289	chr21:47344261-47344262	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs74535996	chr21:47344262-47344263	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs71324462	chr21:47344272-47344273	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs71324463	chr21:47344279-47344280	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs2839062	chr21:47344291-47344292	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs76804272	chr21:47344296-47344297	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs367899602	chr21:47344327-47344328	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs71317801	chr21:47344338-47344339	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs186465054	chr21:47344345-47344346	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs2742203	chr21:47344357-47344358	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs71324467	chr21:47344362-47344363	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs113478821	chr21:47344382-47344383	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs62213803	chr21:47344385-47344386	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs369204278	chr21:47344393-47344394	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs372523727	chr21:47344394-47344395	Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs112967862	chr21:47344404-47344405	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs79330296	chr21:47344405-47344406	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs112841273	chr21:47344411-47344412	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs66824771	chr21:47344423-47344424	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs369350071	chr21:47344428-47344429	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs567525029	chr21:47344432-47344433	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs112544310	chr21:47344448-47344449	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs141837975	chr21:47344459-47344460	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs376279442	chr21:47344460-47344461	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs78912507	chr21:47344470-47344471	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs111234201	chr21:47344477-47344478	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs111884140	chr21:47344489-47344490	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs373477968	chr21:47344494-47344495	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs534930107	chr21:47344508-47344509	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs376890145	chr21:47344514-47344515	Weak transcription	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:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:47333600-47351600	Weak transcription	Gastric	stomach
2	chr21:47340000-47354800	Weak transcription	Primary T cells from cord blood	blood
3	chr21:47342600-47344200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr21:47343200-47350400	Weak transcription	Spleen	Spleen
5	chr21:47343400-47353800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr21:47343600-47346800	Weak transcription	Fetal Muscle Leg	muscle
7	chr21:47343600-47347400	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr21:47343600-47353600	Weak transcription	Brain Hippocampus Middle	brain
9	chr21:47343600-47354600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr21:47344000-47344400	ZNF genes & repeats	Esophagus	oesophagus

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