Variant report

Variant	esv3341617
Chromosome Location	chr21:44768491-44768860
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:44763173..44768518-chr21:44813268..44818095,5	MCF-7	breast:
2	chr21:44693692..44695887-chr21:44767951..44769747,2	MCF-7	breast:
3	chr21:44766381..44769157-chr21:44770882..44772794,2	K562	blood:
4	chr21:44767996..44772227-chr21:44773737..44776120,4	MCF-7	breast:
5	chr21:44752754..44755625-chr21:44766039..44768517,2	MCF-7	breast:
6	chr21:44757282..44768663-chr21:44841832..44851703,32	MCF-7	breast:
7	chr21:44766255..44769691-chr21:44923906..44926026,3	MCF-7	breast:
8	chr21:44762520..44766319-chr21:44766634..44772911,10	MCF-7	breast:
9	chr21:44597167..44598866-chr21:44766112..44768773,2	MCF-7	breast:
10	chr21:44746633..44749301-chr21:44766480..44769063,2	K562	blood:
11	chr21:44765975..44770673-chr21:44844225..44848296,6	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000142178	chromatin interactions

Extended variants
information (count: 16 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs577047578	chr21:44768492-44768493	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs643608	chr21:44768562-44768563	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance disease
3	rs578090360	chr21:44768594-44768595	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs529867459	chr21:44768625-44768626	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs190657882	chr21:44768626-44768627	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs560565634	chr21:44768663-44768664	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs527814818	chr21:44768671-44768672	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs114418726	chr21:44768734-44768735	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs112177961	chr21:44768735-44768736	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs557394939	chr21:44768736-44768737	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs115084150	chr21:44768743-44768744	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs373157488	chr21:44768801-44768802	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs535642378	chr21:44768806-44768807	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs62218951	chr21:44768823-44768824	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs530908015	chr21:44768840-44768841	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs114056160	chr21:44768860-44768861	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:96)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Cancer	16751803	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Down syndrome	17412756	CNVD
Down syndrome	17576883	CNVD
Acute promyelocytic leukemia	19109227	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	17387387	CNVD
Renal cell carcinoma	19461508	CNVD
Seminomas	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Prostate cancer	19156837	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
lymphocytic leukemia	21291569	CNVD
Melanoma	18172304	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
Chronic lymphocytic leukemia	20421269	CNVD
Wilms tumour	21544195	CNVD
Ewing''s sarcoma	17952124	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute myeloid leukemia	16864856	CNVD
Mental retardation	21031080	CNVD
Polymicrogyria	21031080	CNVD
periventricular nodular heterotopia	21031080	CNVD
Myelodysplastic syndrome	21606161	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Autism	18414403	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Breast cancer	21858162	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	17899364	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	20473283	CNVD
Chordoma	18071362	CNVD
Breast cancer	21364760	CNVD
Glioblastoma multiforme	18628472	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-syndromic sensorineural hearing loss	17457615	CNVD
Ewing''s sarcoma	21437220	CNVD
Lung adenocarcinoma	17086460	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Ovarian neoplasms	16753589	CNVD
Non-small cell lung cancer	21829676	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Gastric adenocarcinoma	19115996	CNVD
Acute myeloid leukemia	21358987	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Prostate cancer	23341502	CNVD
Ovarian cancer	21720365	CNVD
Urothelial carcinoma	21177765	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Prostate cancer	18632612	CNVD
Neuroblastoma	20406844	CNVD
Acute myeloid leukemia	21251322	CNVD
Non-syndromic sensorineural hearing loss	18496225	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 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
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	17142309	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:44754800-44781200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr21:44757600-44770000	Enhancers	Fetal Muscle Leg	muscle
3	chr21:44759600-44772000	Weak transcription	Primary B cells from peripheral blood	blood
4	chr21:44761400-44769600	Enhancers	Fetal Lung	lung
5	chr21:44761800-44768800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr21:44762600-44769000	Weak transcription	HSMM	muscle
7	chr21:44762800-44769600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr21:44763200-44769600	Enhancers	Fetal Thymus	thymus
9	chr21:44763200-44769800	Enhancers	Spleen	Spleen
10	chr21:44763600-44780800	Weak transcription	Duodenum Mucosa	Duodenum
11	chr21:44764400-44769000	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr21:44764600-44768800	Weak transcription	Fetal Brain Female	brain
13	chr21:44764800-44770200	Weak transcription	Fetal Brain Male	brain
14	chr21:44765400-44779000	Weak transcription	Gastric	stomach
15	chr21:44766000-44769800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr21:44766400-44768800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr21:44766400-44768800	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr21:44766400-44769800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
19	chr21:44766400-44773800	Weak transcription	Thymus	Thymus
20	chr21:44766600-44768600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr21:44766600-44768600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr21:44766600-44768800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr21:44766600-44773200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr21:44766800-44768600	Weak transcription	Brain Germinal Matrix	brain
25	chr21:44766800-44768600	Weak transcription	HMEC	breast
26	chr21:44766800-44768800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr21:44766800-44769200	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr21:44766800-44769200	Weak transcription	Right Ventricle	heart
29	chr21:44766800-44774000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr21:44766800-44775400	Weak transcription	Hela-S3	cervix
31	chr21:44767000-44769800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr21:44767800-44769000	Enhancers	Adipose Nuclei	Adipose
33	chr21:44767800-44769200	Enhancers	Placenta	Placenta
34	chr21:44767800-44769200	Enhancers	A549	lung
35	chr21:44767800-44769600	Enhancers	Primary monocytes fromperipheralblood	blood
36	chr21:44767800-44771000	Enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr21:44768000-44769000	Enhancers	Right Atrium	heart
38	chr21:44768000-44769600	Bivalent Enhancer	Fetal Stomach	stomach
39	chr21:44768000-44769600	Enhancers	Left Ventricle	heart
40	chr21:44768000-44769600	Enhancers	Lung	lung
41	chr21:44768000-44769600	Enhancers	Skeletal Muscle Male	skeletal muscle
42	chr21:44768000-44769600	Enhancers	HUVEC	blood vessel
43	chr21:44768000-44769600	Enhancers	Monocytes-CD14+_RO01746	blood
44	chr21:44768200-44768800	Enhancers	Colonic Mucosa	Colon
45	chr21:44768200-44768800	Enhancers	Fetal Intestine Large	intestine
46	chr21:44768200-44770200	Enhancers	Esophagus	oesophagus
47	chr21:44768200-44772400	Weak transcription	NHDF-Ad	bronchial
48	chr21:44768400-44769000	Enhancers	NHEK	skin
49	chr21:44768400-44769400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr21:44768400-44781000	Weak transcription	Fetal Intestine Small	intestine

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