Variant report

Variant	esv3355550
Chromosome Location	chr21:47497524-47501822
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:47498636..47500154-chr21:47500293..47503205,2	MCF-7	breast:
2	chr21:47498636..47500154-chr21:47500293..47503205,2	MCF-7	breast:
3	chr21:47493601..47495532-chr21:47497650..47499455,2	K562	blood:
4	chr21:47491970..47494495-chr21:47501163..47503528,2	K562	blood:

Variant related genes	Relation type
ENSG00000233767	chromatin interactions

Extended variants
information (count: 297 )
Associated
traits (count: 36 )

Variant overlapped rSNPs/rCNVs (count:297 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs377763691	chr21:47497537-47497538	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs549619128	chr21:47497547-47497548	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs2839100	chr21:47497570-47497571	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs541004830	chr21:47497575-47497576	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs202143680	chr21:47497607-47497608	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs554108578	chr21:47497615-47497616	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs112708342	chr21:47497657-47497658	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs9978329	chr21:47497658-47497659	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs149268539	chr21:47497666-47497667	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs558875940	chr21:47497674-47497675	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs559896578	chr21:47497675-47497676	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs144573216	chr21:47497695-47497696	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs538517168	chr21:47497696-47497697	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs556942929	chr21:47497764-47497765	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs79238738	chr21:47497765-47497766	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs532150221	chr21:47497780-47497781	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs552105593	chr21:47497784-47497785	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs9978499	chr21:47497785-47497786	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs137973708	chr21:47497788-47497789	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs185365465	chr21:47497812-47497813	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs531551603	chr21:47497817-47497818	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs9979206	chr21:47497818-47497819	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs142671220	chr21:47497838-47497839	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs548551414	chr21:47497839-47497840	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs543311675	chr21:47497864-47497865	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs189734987	chr21:47497879-47497880	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs146019214	chr21:47497894-47497895	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs547159310	chr21:47497917-47497918	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs565750896	chr21:47497932-47497933	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs527769253	chr21:47497933-47497934	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs577749129	chr21:47497946-47497947	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs11910322	chr21:47497966-47497967	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs367614368	chr21:47498005-47498006	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs2839101	chr21:47498034-47498035	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs180809214	chr21:47498042-47498043	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs9979469	chr21:47498072-47498073	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs114065370	chr21:47498133-47498134	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs77929748	chr21:47498136-47498137	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs570973351	chr21:47498144-47498145	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs554313386	chr21:47498156-47498157	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs544305442	chr21:47498214-47498215	Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs545865569	chr21:47498234-47498235	Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs8126974	chr21:47498238-47498239	Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs62213131	chr21:47498280-47498281	Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs142286899	chr21:47498290-47498291	Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs150821138	chr21:47498293-47498294	Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs11911075	chr21:47498295-47498296	Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs540956850	chr21:47498301-47498302	Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs375154126	chr21:47498302-47498303	Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs559485537	chr21:47498307-47498308	Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer	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:131 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:47485200-47517400	Weak transcription	Right Atrium	heart
2	chr21:47488000-47498000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr21:47488600-47497600	Weak transcription	NHDF-Ad	bronchial
4	chr21:47489400-47511000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr21:47489600-47499200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr21:47489600-47511000	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr21:47491200-47499000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr21:47492800-47498400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr21:47497400-47497600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr21:47497400-47498200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr21:47497600-47497800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr21:47497600-47504800	Enhancers	NHDF-Ad	bronchial
13	chr21:47497800-47498000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr21:47498000-47498400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr21:47498000-47498600	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr21:47498000-47498600	Enhancers	Stomach Smooth Muscle	stomach
17	chr21:47498000-47499200	Enhancers	Osteobl	bone
18	chr21:47498200-47499000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr21:47498200-47499400	Enhancers	Adipose Nuclei	Adipose
20	chr21:47498200-47499600	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
21	chr21:47498200-47500800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
22	chr21:47498200-47504600	Enhancers	Fetal Muscle Leg	muscle
23	chr21:47498400-47498600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr21:47498400-47498800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr21:47498400-47499600	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
26	chr21:47498400-47499600	Enhancers	NHLF	lung
27	chr21:47498400-47501200	Enhancers	Right Ventricle	heart
28	chr21:47498400-47502000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr21:47498600-47498800	Bivalent Enhancer	Placenta	Placenta
30	chr21:47498600-47498800	Flanking Active TSS	Stomach Smooth Muscle	stomach
31	chr21:47498600-47499000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr21:47498600-47500000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr21:47498600-47500600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr21:47498600-47500600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr21:47498600-47501200	Enhancers	Colon Smooth Muscle	Colon
36	chr21:47498600-47502000	Enhancers	Muscle Satellite Cultured Cells	--
37	chr21:47498800-47499000	Enhancers	Stomach Smooth Muscle	stomach
38	chr21:47498800-47499200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr21:47498800-47500200	Enhancers	Placenta	Placenta
40	chr21:47498800-47501000	Enhancers	Left Ventricle	heart
41	chr21:47498800-47501200	Enhancers	Fetal Heart	heart
42	chr21:47498800-47501200	Enhancers	Rectal Smooth Muscle	rectum
43	chr21:47498800-47501800	Enhancers	Fetal Stomach	stomach
44	chr21:47498800-47502000	Enhancers	NH-A	brain
45	chr21:47499000-47499200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr21:47499000-47499200	Flanking Active TSS	Stomach Smooth Muscle	stomach
47	chr21:47499000-47499800	Enhancers	HSMM	muscle
48	chr21:47499000-47500600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
49	chr21:47499000-47501200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr21:47499000-47501200	Enhancers	Fetal Lung	lung

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