Variant report

Variant	esv10743
Chromosome Location	chr21:47338186-47338851
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:47336465..47338261-chr21:47339874..47342406,2	K562	blood:
2	chr21:46960880..46963479-chr21:47338437..47340205,2	MCF-7	breast:
3	chr21:47336284..47339176-chr3:128004670..128006634,2	MCF-7	breast:
4	chr21:47338168..47340965-chr21:47341072..47342617,2	K562	blood:
5	chr21:46805769..46807395-chr21:47337287..47339395,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000173638	chromatin interactions

Extended variants
information (count: 69 )
Associated
traits (count: 36 )

Variant overlapped rSNPs/rCNVs (count:69 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555632259	chr21:47338188-47338189	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs201599278	chr21:47338200-47338201	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs374331	chr21:47338218-47338219	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs118043134	chr21:47338220-47338221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs111276064	chr21:47338243-47338244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs113413535	chr21:47338266-47338267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs55930525	chr21:47338268-47338269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs559289216	chr21:47338275-47338276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs1736426	chr21:47338291-47338292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs199838539	chr21:47338314-47338315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs184030526	chr21:47338316-47338317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs200907558	chr21:47338323-47338324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs9979044	chr21:47338327-47338328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs111368407	chr21:47338339-47338340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs78853086	chr21:47338340-47338341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs75937639	chr21:47338342-47338343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs9976728	chr21:47338362-47338363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs111404876	chr21:47338371-47338372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs9979123	chr21:47338375-47338376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs202079356	chr21:47338386-47338387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs9975743	chr21:47338387-47338388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs201586172	chr21:47338391-47338392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs537473787	chr21:47338408-47338409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs79257449	chr21:47338410-47338411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs549944414	chr21:47338412-47338413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs7283372	chr21:47338423-47338424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs77979974	chr21:47338435-47338436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs113399599	chr21:47338458-47338459	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs112077630	chr21:47338467-47338468	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs78826385	chr21:47338471-47338472	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs76794577	chr21:47338483-47338484	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs200672604	chr21:47338487-47338488	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs77816383	chr21:47338506-47338507	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs112026387	chr21:47338515-47338516	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs541087104	chr21:47338519-47338520	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs8130339	chr21:47338531-47338532	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs140905160	chr21:47338532-47338533	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs143213345	chr21:47338534-47338535	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs529562360	chr21:47338535-47338536	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs547941221	chr21:47338536-47338537	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs2776395	chr21:47338554-47338555	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs111738516	chr21:47338563-47338564	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs371141612	chr21:47338580-47338581	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs2776396	chr21:47338602-47338603	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs55959976	chr21:47338611-47338612	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs371753434	chr21:47338615-47338616	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs2742204	chr21:47338627-47338628	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs565946918	chr21:47338634-47338635	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs188566186	chr21:47338650-47338651	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs112482083	chr21:47338659-47338660	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:21 , 50 per page) page: 1

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	chr21:47333800-47338800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr21:47334400-47340000	Weak transcription	Thymus	Thymus
6	chr21:47335600-47338200	Enhancers	Spleen	Spleen
7	chr21:47336400-47341800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr21:47336400-47341800	Weak transcription	Primary T helper cells PMA-I stimulated	--
9	chr21:47336400-47341800	Weak transcription	Primary T helper cells fromperipheralblood	blood
10	chr21:47336800-47339600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr21:47336800-47342600	Weak transcription	Fetal Thymus	thymus
12	chr21:47337000-47339200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr21:47337400-47340600	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr21:47337400-47341800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr21:47337600-47339000	Weak transcription	Placenta	Placenta
16	chr21:47337800-47338200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr21:47338000-47339000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr21:47338200-47338800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr21:47338200-47339000	Weak transcription	Spleen	Spleen
20	chr21:47338800-47339200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr21:47338800-47340200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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