Variant report

Variant	esv3352298
Chromosome Location	chr21:17193652-17194025
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOSL2	chr21:17193084-17193678	SK-N-SH	brain:	n/a	chr21:17193349-17193357
2	KAP1	chr21:17193474-17193846	K562	blood:	n/a	n/a
3	POLR2A	chr21:17193392-17193925	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:17105250..17107735-chr21:17192810..17196080,3	K562	blood:
2	chr21:17188442..17191179-chr21:17191582..17194063,2	MCF-7	breast:

Variant related genes	Relation type
USP25	TF binding region

Extended variants
information (count: 14 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs564995969	chr21:17193700-17193701	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs11909481	chr21:17193711-17193712	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs138570298	chr21:17193725-17193726	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs538321182	chr21:17193752-17193753	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs148880035	chr21:17193775-17193776	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs373945623	chr21:17193777-17193778	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs529613234	chr21:17193798-17193799	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs549677521	chr21:17193814-17193815	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs74500587	chr21:17193849-17193850	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs183885852	chr21:17193877-17193878	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs16990117	chr21:17193894-17193895	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs574695298	chr21:17193895-17193896	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs9975855	chr21:17193966-17193967	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs534022306	chr21:17194023-17194024	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

Disease	PMID	Source
Ovarian cancer	21720365	CNVD
Wilms tumour	21544195	CNVD
Esophageal cancer	21851588	CNVD
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 myeloid leukemia	20729466	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell lymphomas	19863542	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
Acute lymphoblastic leukemia	21980252	CNVD
Metanephric adenoma	20802469	CNVD
Neuroblastoma	18923191	CNVD
Prostate cancer	19156837	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Cancer	20164919	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
lymphocytic leukemia	21291569	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute myeloid leukemia	21251322	CNVD
abnormal development	18461090	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Multiple myeloma	17550852	CNVD
Myelofibrosis	22110671	CNVD
Alzheimer''s disease	18923514	CNVD
Alzheimer''s disease	20877625	CNVD
Follicular lymphoma	20505157	CNVD
Alzheimer''s disease	21956041	CNVD
Cancer	21183584	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Invasive pancreatic ductal carcinoma	16982739	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
Epilepsy	20502679	CNVD
22q11.2 microdeletion syndrome	19750312	CNVD
Breast cancer	20409316	CNVD

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:17155200-17197600	Weak transcription	Fetal Heart	heart
2	chr21:17155200-17199200	Weak transcription	Right Ventricle	heart
3	chr21:17155200-17203800	Weak transcription	Colon Smooth Muscle	Colon
4	chr21:17155200-17209800	Weak transcription	Rectal Smooth Muscle	rectum
5	chr21:17155200-17252800	Weak transcription	Fetal Brain Male	brain
6	chr21:17169000-17194200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr21:17176000-17198200	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr21:17177200-17208800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr21:17178400-17248200	Weak transcription	Esophagus	oesophagus
10	chr21:17178400-17252800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr21:17178800-17211400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr21:17180800-17199200	Weak transcription	HSMMtube	muscle
13	chr21:17182400-17227800	Weak transcription	Psoas Muscle	Psoas
14	chr21:17184000-17203800	Weak transcription	Brain Hippocampus Middle	brain
15	chr21:17184000-17209800	Weak transcription	Stomach Smooth Muscle	stomach
16	chr21:17185800-17194200	Weak transcription	Hela-S3	cervix
17	chr21:17186200-17204200	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr21:17187000-17194000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
19	chr21:17187400-17208800	Strong transcription	Monocytes-CD14+_RO01746	blood
20	chr21:17187800-17203600	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr21:17188000-17197000	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr21:17188000-17197600	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr21:17188000-17199200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr21:17188000-17199200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr21:17188000-17203800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr21:17188000-17208800	Strong transcription	Primary monocytes fromperipheralblood	blood
27	chr21:17188000-17214000	Weak transcription	Gastric	stomach
28	chr21:17188000-17229400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr21:17188000-17240200	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr21:17188200-17195400	Strong transcription	Primary B cells from peripheral blood	blood
31	chr21:17188200-17203800	Weak transcription	Fetal Lung	lung
32	chr21:17188200-17213400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr21:17188200-17246800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr21:17188400-17198400	Weak transcription	A549	lung
35	chr21:17188400-17206600	Weak transcription	Stomach Mucosa	stomach
36	chr21:17188400-17247200	Weak transcription	Ovary	ovary
37	chr21:17188400-17253200	Weak transcription	Fetal Brain Female	brain
38	chr21:17188600-17194400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
39	chr21:17188600-17199200	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr21:17188600-17210000	Weak transcription	Aorta	Aorta
41	chr21:17188600-17210400	Weak transcription	Fetal Intestine Small	intestine
42	chr21:17188600-17213400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr21:17188800-17194200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
44	chr21:17188800-17206400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr21:17188800-17247000	Weak transcription	Brain Germinal Matrix	brain
46	chr21:17188800-17252600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr21:17189000-17194200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
48	chr21:17189000-17202400	Weak transcription	HepG2	liver
49	chr21:17189000-17203000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr21:17189200-17195200	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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