Variant report

Variant	esv3336989
Chromosome Location	chr21:47342624-47346122
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:47188474..47189148-chr21:47343010..47343629,2	MCF-7	breast:
2	chr21:46976073..46976581-chr21:47342782..47343760,2	MCF-7	breast:
3	chr21:47242790..47243479-chr21:47342941..47343666,2	MCF-7	breast:
4	chr21:47267610..47268453-chr21:47342093..47343648,5	MCF-7	breast:
5	chr21:47240289..47241171-chr21:47342639..47343656,4	MCF-7	breast:
6	chr21:47328644..47331016-chr21:47340908..47343121,3	MCF-7	breast:
7	chr21:47267694..47268408-chr21:47342147..47343416,5	MCF-7	breast:
8	chr21:47329285..47331470-chr21:47342066..47344987,2	MCF-7	breast:
9	chr21:47343400..47344981-chr21:47348595..47351578,2	MCF-7	breast:
10	chr21:47342692..47343850-chr21:47390349..47391235,3	MCF-7	breast:
11	chr21:47300028..47300909-chr21:47342650..47343811,5	MCF-7	breast:
12	chr21:47338875..47340965-chr21:47341117..47343595,2	K562	blood:
13	chr21:47300119..47302715-chr21:47341992..47344397,3	MCF-7	breast:
14	chr21:46961904..46964259-chr21:47343378..47345048,2	MCF-7	breast:
15	chr21:47240324..47241096-chr21:47342788..47343697,3	MCF-7	breast:
16	chr21:47286434..47288542-chr21:47340592..47343360,3	MCF-7	breast:
17	chr21:47299971..47300594-chr21:47342907..47343695,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000183570	chromatin interactions
ENSG00000173638	chromatin interactions

Extended variants
information (count: 276 )
Associated
traits (count: 36 )

Variant overlapped rSNPs/rCNVs (count:276 , 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	rs543213950	chr21:47342677-47342678	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs146334631	chr21:47342678-47342679	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs548528838	chr21:47342689-47342690	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs560495797	chr21:47342737-47342738	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs563555515	chr21:47342747-47342748	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs112132451	chr21:47342786-47342787	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs552887252	chr21:47342787-47342788	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs571201710	chr21:47342790-47342791	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs538429259	chr21:47342793-47342794	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs550108323	chr21:47342821-47342822	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs375779743	chr21:47342850-47342851	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs535222780	chr21:47342890-47342891	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs553481137	chr21:47342891-47342892	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs201918936	chr21:47342892-47342893	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs10532807	chr21:47342893-47342894	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs80219893	chr21:47342895-47342896	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs199835623	chr21:47342897-47342898	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs549333437	chr21:47342944-47342945	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs192783317	chr21:47342945-47342946	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs117551748	chr21:47342946-47342947	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs144324215	chr21:47342973-47342974	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs184699003	chr21:47342974-47342975	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs551896623	chr21:47342977-47342978	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs576262643	chr21:47342984-47342985	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs543563490	chr21:47342985-47342986	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs114895946	chr21:47342992-47342993	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs9978439	chr21:47343022-47343023	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs148764861	chr21:47343023-47343024	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs570259851	chr21:47343030-47343031	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs71324455	chr21:47343132-47343133	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs550905751	chr21:47343195-47343196	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs115581831	chr21:47343196-47343197	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs552648149	chr21:47343218-47343219	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs188414605	chr21:47343289-47343290	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs531919633	chr21:47343292-47343293	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs373267	chr21:47343320-47343321	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs536521949	chr21:47343329-47343330	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs568542572	chr21:47343361-47343362	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs536083023	chr21:47343388-47343389	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs547083571	chr21:47343398-47343399	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs565486055	chr21:47343400-47343401	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs539001334	chr21:47343401-47343402	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs557342353	chr21:47343411-47343412	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs113886280	chr21:47343415-47343416	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs553662037	chr21:47343469-47343470	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs555662685	chr21:47343479-47343480	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs373415192	chr21:47343484-47343485	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs147533917	chr21:47343487-47343488	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs554303580	chr21:47343506-47343507	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs9980566	chr21:47343511-47343512	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	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:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:47308000-47343000	Weak transcription	Right Atrium	heart
2	chr21:47333600-47351600	Weak transcription	Gastric	stomach
3	chr21:47339600-47343600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr21:47339800-47343000	Weak transcription	Spleen	Spleen
5	chr21:47340000-47354800	Weak transcription	Primary T cells from cord blood	blood
6	chr21:47340800-47342800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr21:47340800-47343000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr21:47341800-47342800	Enhancers	NHLF	lung
9	chr21:47341800-47343200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
10	chr21:47341800-47343600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
11	chr21:47341800-47343600	Enhancers	Primary T helper cells PMA-I stimulated	--
12	chr21:47341800-47343600	Enhancers	Primary T helper cells fromperipheralblood	blood
13	chr21:47341800-47343600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
14	chr21:47341800-47343600	Enhancers	Fetal Muscle Leg	muscle
15	chr21:47342200-47343600	Enhancers	Brain Hippocampus Middle	brain
16	chr21:47342400-47343600	Enhancers	Primary T helper naive cells from peripheral blood	blood
17	chr21:47342400-47343600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
18	chr21:47342400-47343600	Enhancers	Brain Cingulate Gyrus	brain
19	chr21:47342600-47342800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr21:47342600-47343000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
21	chr21:47342600-47343200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr21:47342600-47343200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
23	chr21:47342600-47343200	Enhancers	Muscle Satellite Cultured Cells	--
24	chr21:47342600-47343200	Enhancers	Brain Anterior Caudate	brain
25	chr21:47342600-47343200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
26	chr21:47342600-47343200	ZNF genes & repeats	Fetal Thymus	thymus
27	chr21:47342600-47343200	Enhancers	NHDF-Ad	bronchial
28	chr21:47342600-47343600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr21:47342600-47343600	Enhancers	Primary T killer memory cells from peripheral blood	blood
30	chr21:47342600-47343600	Enhancers	HSMM	muscle
31	chr21:47342600-47343800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr21:47342600-47344200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr21:47342800-47343200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
34	chr21:47342800-47343200	Enhancers	Fetal Kidney	kidney
35	chr21:47342800-47343200	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
36	chr21:47342800-47343400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr21:47342800-47343400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr21:47342800-47343600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
39	chr21:47342800-47343600	Enhancers	Brain Angular Gyrus	brain
40	chr21:47342800-47343600	Enhancers	Brain Substantia Nigra	brain
41	chr21:47343000-47343200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr21:47343000-47343200	Enhancers	Fetal Lung	lung
43	chr21:47343000-47343200	Enhancers	Right Atrium	heart
44	chr21:47343000-47343200	Enhancers	Spleen	Spleen
45	chr21:47343000-47343600	Enhancers	Breast Myoepithelial Primary Cells	Breast
46	chr21:47343000-47343600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
47	chr21:47343000-47343600	Enhancers	Adipose Nuclei	Adipose
48	chr21:47343000-47343600	Enhancers	Brain Inferior Temporal Lobe	brain
49	chr21:47343000-47343600	Enhancers	Duodenum Smooth Muscle	Duodenum
50	chr21:47343000-47343600	Enhancers	Fetal Heart	heart

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