Variant report

Variant	esv275197
Chromosome Location	chr21:17123855-17130358
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:17127290..17130073-chr21:17133451..17135040,2	MCF-7	breast:
2	chr21:17128179..17129872-chr21:17129945..17132364,2	K562	blood:
3	chr21:17104177..17106318-chr21:17123933..17125566,2	K562	blood:
4	chr21:17125584..17127953-chr21:17130378..17132537,2	K562	blood:
5	chr21:17128179..17129872-chr21:17129945..17132364,2	K562	blood:
6	chr21:17102136..17104047-chr21:17126942..17128676,2	K562	blood:
7	chr21:17121263..17123662-chr21:17127297..17128832,2	K562	blood:
8	chr21:17101896..17103762-chr21:17124530..17127504,2	MCF-7	breast:
9	chr21:17123698..17126562-chr21:17142609..17145221,2	MCF-7	breast:
10	chr21:17116180..17118994-chr21:17126178..17127711,2	K562	blood:
11	chr21:17102350..17105296-chr21:17124464..17127138,3	MCF-7	breast:
12	chr21:17126721..17128269-chr21:17130491..17133281,2	MCF-7	breast:
13	chr21:17125329..17127564-chr21:17142354..17143881,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000155313	chromatin interactions
ENSG00000234159	chromatin interactions

Extended variants
information (count: 248 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:248 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs456899	chr21:17123855-17123856	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs182735728	chr21:17123878-17123879	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs75782270	chr21:17123891-17123892	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs368449597	chr21:17123909-17123910	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs7278387	chr21:17123927-17123928	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs531614468	chr21:17123960-17123961	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs551715199	chr21:17123966-17123967	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs577515092	chr21:17124113-17124114	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs571864830	chr21:17124175-17124176	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs555054500	chr21:17124195-17124196	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs527948769	chr21:17124199-17124200	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs547659274	chr21:17124246-17124247	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs187267215	chr21:17124262-17124263	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs191114077	chr21:17124263-17124264	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs540079114	chr21:17124297-17124298	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs569686275	chr21:17124310-17124311	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs538264047	chr21:17124339-17124340	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs558498825	chr21:17124409-17124410	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs571925811	chr21:17124410-17124411	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs77828374	chr21:17124426-17124427	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs554895055	chr21:17124471-17124472	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs573313715	chr21:17124475-17124476	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs574734155	chr21:17124503-17124504	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs28627638	chr21:17124510-17124511	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs376981327	chr21:17124518-17124519	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs562854978	chr21:17124527-17124528	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs576450411	chr21:17124532-17124533	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs545092729	chr21:17124536-17124537	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs183820457	chr21:17124568-17124569	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs527662462	chr21:17124606-17124607	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs547722164	chr21:17124639-17124640	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs561242119	chr21:17124768-17124769	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs188364641	chr21:17124796-17124797	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs550308631	chr21:17124802-17124803	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs193253798	chr21:17124812-17124813	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs541928214	chr21:17124928-17124929	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs538755004	chr21:17124937-17124938	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs117455874	chr21:17124946-17124947	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs565722199	chr21:17124962-17124963	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs34318039	chr21:17125043-17125044	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs534599747	chr21:17125058-17125059	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs554908227	chr21:17125149-17125150	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs562129394	chr21:17125167-17125168	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs574746284	chr21:17125171-17125172	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs537262602	chr21:17125213-17125214	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs557092841	chr21:17125243-17125244	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs184543639	chr21:17125252-17125253	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs530771950	chr21:17125254-17125255	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs9982479	chr21:17125255-17125256	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs143738796	chr21:17125321-17125322	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	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:423 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:17104200-17133400	Weak transcription	Colonic Mucosa	Colon
2	chr21:17105400-17125200	Weak transcription	Brain Substantia Nigra	brain
3	chr21:17113400-17124800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr21:17114800-17126600	Weak transcription	Aorta	Aorta
5	chr21:17114800-17126600	Weak transcription	NH-A	brain
6	chr21:17115000-17126600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr21:17115200-17130000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr21:17115400-17145400	Weak transcription	Fetal Thymus	thymus
9	chr21:17115600-17133400	Weak transcription	Dnd41	blood
10	chr21:17115600-17139400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr21:17115800-17125600	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr21:17116000-17125400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr21:17116200-17124800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr21:17116200-17139400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr21:17116400-17125400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr21:17116600-17124200	Weak transcription	Fetal Muscle Trunk	muscle
17	chr21:17116600-17124800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr21:17116600-17124800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr21:17116600-17125400	Weak transcription	Fetal Muscle Leg	muscle
20	chr21:17116600-17125400	Weak transcription	Fetal Stomach	stomach
21	chr21:17116600-17125400	Weak transcription	Right Ventricle	heart
22	chr21:17116600-17125400	Weak transcription	Thymus	Thymus
23	chr21:17116600-17145400	Weak transcription	Esophagus	oesophagus
24	chr21:17116800-17124800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr21:17117400-17125400	Weak transcription	Placenta	Placenta
26	chr21:17117400-17126400	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr21:17119000-17125200	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr21:17119400-17124400	Enhancers	Primary T helper cells fromperipheralblood	blood
29	chr21:17120000-17124400	Enhancers	Primary T killer memory cells from peripheral blood	blood
30	chr21:17120800-17124600	Weak transcription	Spleen	Spleen
31	chr21:17121000-17124400	Enhancers	Adipose Nuclei	Adipose
32	chr21:17121400-17125400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr21:17121400-17125600	Weak transcription	Fetal Brain Female	brain
34	chr21:17121600-17125200	Weak transcription	Primary monocytes fromperipheralblood	blood
35	chr21:17121800-17125200	Weak transcription	Monocytes-CD14+_RO01746	blood
36	chr21:17122000-17125000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr21:17122200-17125200	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr21:17122200-17126400	Weak transcription	Pancreatic Islets	Pancreatic Islet
39	chr21:17122200-17126600	Enhancers	Primary T cells fromperipheralblood	blood
40	chr21:17122200-17126600	Weak transcription	Fetal Kidney	kidney
41	chr21:17122200-17127200	Enhancers	Psoas Muscle	Psoas
42	chr21:17122200-17129200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr21:17122400-17124800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr21:17122400-17124800	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr21:17122400-17125000	Weak transcription	Rectal Mucosa Donor 29	rectum
46	chr21:17122400-17125000	Weak transcription	HUVEC	blood vessel
47	chr21:17122400-17125400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr21:17122400-17125400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
49	chr21:17122400-17125400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr21:17122400-17126400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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