Variant report

Variant	esv3430100
Chromosome Location	chr21:44821907-44822148
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:44818715..44822400-chr21:44825874..44830059,6	MCF-7	breast:
2	chr21:44821621..44823244-chr21:44846507..44848273,2	K562	blood:
3	chr21:44762784..44765751-chr21:44820003..44823083,3	MCF-7	breast:
4	chr21:44806720..44808933-chr21:44820146..44822747,2	K562	blood:
5	chr21:44815638..44818048-chr21:44819779..44823056,3	MCF-7	breast:
6	chr21:44751981..44753821-chr21:44820405..44821935,2	MCF-7	breast:
7	chr21:44820781..44823244-chr21:44845092..44848273,4	K562	blood:

Variant related genes	Relation type
ENSG00000142178	chromatin interactions

Extended variants
information (count: 13 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs559779754	chr21:44821959-44821960	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs533292213	chr21:44821966-44821967	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs545379198	chr21:44821995-44821996	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs113211007	chr21:44821999-44822000	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs563383469	chr21:44822007-44822008	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs181559425	chr21:44822081-44822082	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs114218010	chr21:44822082-44822083	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs567639745	chr21:44822108-44822109	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs186729752	chr21:44822109-44822110	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs373216707	chr21:44822113-44822114	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs143947376	chr21:44822133-44822134	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs114394398	chr21:44822136-44822137	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs557729131	chr21:44822148-44822149	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS	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:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:44790600-44830800	Weak transcription	Right Atrium	heart
2	chr21:44808600-44823000	Weak transcription	Brain Germinal Matrix	brain
3	chr21:44814000-44822400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr21:44814400-44822000	Enhancers	Placenta	Placenta
5	chr21:44814800-44822200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr21:44816200-44822800	Enhancers	Spleen	Spleen
7	chr21:44816400-44823200	Enhancers	Fetal Muscle Leg	muscle
8	chr21:44816800-44823000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr21:44817000-44822400	Enhancers	Adipose Nuclei	Adipose
10	chr21:44817000-44823200	Enhancers	Primary hematopoietic stem cells	blood
11	chr21:44817600-44823600	Enhancers	HepG2	liver
12	chr21:44817600-44829200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr21:44817800-44823200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
14	chr21:44818000-44823200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr21:44818000-44823600	Weak transcription	Fetal Intestine Large	intestine
16	chr21:44818200-44822200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
17	chr21:44818800-44822400	Weak transcription	Esophagus	oesophagus
18	chr21:44819000-44822400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr21:44819200-44822400	Enhancers	Dnd41	blood
20	chr21:44819200-44823200	Weak transcription	Gastric	stomach
21	chr21:44819400-44822400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
22	chr21:44819400-44824200	Enhancers	Primary B cells from cord blood	blood
23	chr21:44819600-44822200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr21:44819800-44822000	Enhancers	Fetal Lung	lung
25	chr21:44819800-44822400	Enhancers	Primary T helper cells PMA-I stimulated	--
26	chr21:44820000-44822000	Enhancers	Primary T cells fromperipheralblood	blood
27	chr21:44820000-44822200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
28	chr21:44820000-44822200	Bivalent Enhancer	Fetal Stomach	stomach
29	chr21:44820000-44822400	Enhancers	Primary T helper cells fromperipheralblood	blood
30	chr21:44820000-44822600	Enhancers	Primary T killer memory cells from peripheral blood	blood
31	chr21:44820000-44822800	Enhancers	Fetal Thymus	thymus
32	chr21:44820000-44823200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr21:44820000-44823600	Enhancers	Skeletal Muscle Female	skeletal muscle
34	chr21:44820200-44822400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
35	chr21:44820200-44822400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
36	chr21:44820200-44823000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr21:44820200-44824200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
38	chr21:44820400-44822000	Enhancers	Primary neutrophils fromperipheralblood	blood
39	chr21:44820400-44822000	Enhancers	NH-A	brain
40	chr21:44820400-44822200	Enhancers	GM12878-XiMat	blood
41	chr21:44820400-44822400	Enhancers	Primary T cells from cord blood	blood
42	chr21:44820400-44823000	Enhancers	Primary monocytes fromperipheralblood	blood
43	chr21:44820400-44823200	Weak transcription	Pancreas	Pancrea
44	chr21:44820400-44824800	Enhancers	Primary B cells from peripheral blood	blood
45	chr21:44820600-44822000	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr21:44820600-44822000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr21:44820600-44822000	Enhancers	A549	lung
48	chr21:44820600-44822400	Enhancers	Primary hematopoietic stem cells short term culture	blood
49	chr21:44820800-44822200	Enhancers	Fetal Intestine Small	intestine
50	chr21:44821200-44822200	Weak transcription	Colonic Mucosa	Colon

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