Variant report

Variant	esv3439464
Chromosome Location	chr21:47478974-47481472
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:47480527..47483405-chr21:47514946..47517801,2	MCF-7	breast:
2	chr21:47460724..47462986-chr21:47480949..47482640,2	K562	blood:
3	chr21:47477438..47479279-chr21:47515180..47518074,2	K562	blood:

Variant related genes	Relation type
ENSG00000142173	chromatin interactions
ENSG00000227438	chromatin interactions

Extended variants
information (count: 158 )
Associated
traits (count: 36 )

Variant overlapped rSNPs/rCNVs (count:158 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs386819399	chr21:47478976-47478977	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs145156787	chr21:47478980-47478981	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs376119280	chr21:47478984-47478985	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs577525436	chr21:47478987-47478988	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs370429424	chr21:47478992-47478993	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs4818820	chr21:47478995-47478996	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs111797497	chr21:47478996-47478997	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs200782627	chr21:47478999-47479000	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs386819400	chr21:47479000-47479001	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs57186580	chr21:47479001-47479002	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs12482746	chr21:47479003-47479004	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs368413437	chr21:47479004-47479005	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs189638412	chr21:47479017-47479018	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs544093071	chr21:47479018-47479019	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs562400162	chr21:47479037-47479038	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs4818821	chr21:47479051-47479052	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs541690518	chr21:47479052-47479053	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs559387430	chr21:47479054-47479055	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs12482759	chr21:47479105-47479106	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs139825524	chr21:47479109-47479110	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs529744988	chr21:47479137-47479138	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs111458116	chr21:47479242-47479243	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs569524019	chr21:47479253-47479254	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs74927765	chr21:47479261-47479262	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs143199047	chr21:47479263-47479264	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs548851761	chr21:47479268-47479269	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs372894096	chr21:47479271-47479272	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs567252713	chr21:47479298-47479299	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs117524485	chr21:47479300-47479301	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs552933494	chr21:47479320-47479321	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs146661305	chr21:47479347-47479348	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs112304976	chr21:47479350-47479351	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs113201270	chr21:47479375-47479376	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs145002603	chr21:47479383-47479384	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs112305474	chr21:47479392-47479393	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs9982571	chr21:47479401-47479402	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs574424224	chr21:47479409-47479410	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs112022972	chr21:47479429-47479430	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs559647516	chr21:47479430-47479431	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs181781821	chr21:47479434-47479435	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs112439070	chr21:47479457-47479458	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs544745463	chr21:47479471-47479472	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs185360565	chr21:47479475-47479476	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs113471780	chr21:47479499-47479500	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs113387790	chr21:47479512-47479513	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs200106554	chr21:47479530-47479531	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs530405527	chr21:47479531-47479532	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs201097709	chr21:47479538-47479539	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs137939849	chr21:47479540-47479541	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs199850970	chr21:47479554-47479555	Weak transcription ZNF genes & repeats 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:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:47474600-47480400	Weak transcription	Aorta	Aorta
2	chr21:47476600-47479000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
3	chr21:47477200-47479800	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr21:47477200-47480000	Weak transcription	HSMM	muscle
5	chr21:47477200-47480000	Weak transcription	NH-A	brain
6	chr21:47477200-47480200	Weak transcription	Stomach Mucosa	stomach
7	chr21:47477200-47480200	Weak transcription	HSMMtube	muscle
8	chr21:47477400-47479000	Enhancers	Fetal Thymus	thymus
9	chr21:47477400-47479800	Weak transcription	Right Atrium	heart
10	chr21:47477400-47479800	Weak transcription	Osteobl	bone
11	chr21:47477400-47480000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr21:47477400-47480000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr21:47477400-47480000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr21:47477400-47480000	Weak transcription	Adipose Nuclei	Adipose
15	chr21:47477400-47480000	Weak transcription	NHLF	lung
16	chr21:47477400-47480200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr21:47477600-47479600	Weak transcription	Spleen	Spleen
18	chr21:47477600-47480000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr21:47477600-47480000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr21:47477600-47480400	Weak transcription	Ovary	ovary
21	chr21:47477800-47479400	Weak transcription	NHDF-Ad	bronchial
22	chr21:47477800-47479800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr21:47477800-47479800	Weak transcription	Colonic Mucosa	Colon
24	chr21:47477800-47480000	Weak transcription	Rectal Smooth Muscle	rectum
25	chr21:47477800-47480200	Weak transcription	Colon Smooth Muscle	Colon
26	chr21:47477800-47480200	Weak transcription	Placenta	Placenta
27	chr21:47478000-47479600	Enhancers	Primary hematopoietic stem cells	blood
28	chr21:47478000-47479800	Weak transcription	Fetal Muscle Leg	muscle
29	chr21:47478000-47481600	Weak transcription	Fetal Stomach	stomach
30	chr21:47478200-47479800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr21:47478200-47480000	Weak transcription	Stomach Smooth Muscle	stomach
32	chr21:47478200-47480200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr21:47478400-47479400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr21:47478400-47479400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr21:47478600-47479000	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
36	chr21:47478600-47479000	Enhancers	Gastric	stomach
37	chr21:47478600-47479000	Enhancers	Right Ventricle	heart
38	chr21:47478800-47479800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr21:47478800-47480400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr21:47478800-47480400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr21:47478800-47482400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr21:47479000-47480000	Weak transcription	Fetal Thymus	thymus
43	chr21:47479000-47480000	Weak transcription	Right Ventricle	heart
44	chr21:47479000-47481000	Enhancers	Primary hematopoietic stem cells short term culture	blood
45	chr21:47479400-47479800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr21:47479400-47480400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr21:47479400-47485200	Enhancers	NHDF-Ad	bronchial
48	chr21:47479600-47480000	Weak transcription	Primary hematopoietic stem cells	blood
49	chr21:47479600-47480400	ZNF genes & repeats	Spleen	Spleen
50	chr21:47479800-47480200	Enhancers	Muscle Satellite Cultured Cells	--

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