Variant report

Variant	esv13917
Chromosome Location	chr21:37922877-37938746
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:37927572..37929206-chr21:37935404..37938098,2	K562	blood:
2	chr21:37927572..37929206-chr21:37935404..37938098,2	K562	blood:
3	chr21:37920478..37923222-chr21:37942423..37945220,2	MCF-7	breast:
4	chr21:37925728..37927719-chr21:37947583..37950069,2	K562	blood:
5	chr21:37938656..37940715-chr21:37944233..37946563,2	K562	blood:
6	chr21:37792387..37794990-chr21:37927317..37930262,2	MCF-7	breast:
7	chr21:37800788..37802502-chr21:37923063..37924885,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000159261	chromatin interactions

Extended variants
information (count: 492 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:492 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs452128	chr21:37922878-37922879	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs548999948	chr21:37922882-37922883	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs416875	chr21:37922883-37922884	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs117840036	chr21:37922885-37922886	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs78059543	chr21:37922912-37922913	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs374531728	chr21:37922923-37922924	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs547011964	chr21:37922946-37922947	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs571424244	chr21:37922979-37922980	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs533977683	chr21:37922988-37922989	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs571808215	chr21:37923006-37923007	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs567579389	chr21:37923049-37923050	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs364916	chr21:37923058-37923059	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs556549757	chr21:37923063-37923064	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs417191	chr21:37923068-37923069	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs569453033	chr21:37923082-37923083	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs58092779	chr21:37923113-37923114	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs8126947	chr21:37923114-37923115	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs555248515	chr21:37923167-37923168	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs73380031	chr21:37923201-37923202	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs364698	chr21:37923244-37923245	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs364846	chr21:37923259-37923260	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs530455651	chr21:37923280-37923281	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs542255946	chr21:37923303-37923304	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs562546305	chr21:37923399-37923400	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs144059470	chr21:37923403-37923404	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs365416	chr21:37923441-37923442	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs574488360	chr21:37923458-37923459	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs366381	chr21:37923469-37923470	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs562408273	chr21:37923544-37923545	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs574583691	chr21:37923562-37923563	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs527446496	chr21:37923564-37923565	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs186971132	chr21:37923598-37923599	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs191410148	chr21:37923608-37923609	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs536596258	chr21:37923614-37923615	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs560442694	chr21:37923647-37923648	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs569987723	chr21:37923660-37923661	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs146449589	chr21:37923669-37923670	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs182444463	chr21:37923671-37923672	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs148985127	chr21:37923694-37923695	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs534870082	chr21:37923858-37923859	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs554791134	chr21:37923885-37923886	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs375662	chr21:37923963-37923964	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs375572	chr21:37923990-37923991	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs186178538	chr21:37924005-37924006	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs575960972	chr21:37924039-37924040	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs545035284	chr21:37924083-37924084	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs189859026	chr21:37924121-37924122	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs564313856	chr21:37924143-37924144	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs376218	chr21:37924160-37924161	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs547609027	chr21:37924175-37924176	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

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 myeloid leukemia	20729466	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
Ovarian cancer	22174824	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	21364760	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
Acute myeloid leukemia	17237825	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
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Down syndrome	20877625	CNVD
Acute myeloid leukemia	21251322	CNVD
Down syndrome	21154855	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
T-cell lymphomas	22341440	CNVD

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:37915800-37924800	Weak transcription	Right Atrium	heart
2	chr21:37920200-37923400	Weak transcription	Fetal Lung	lung
3	chr21:37920200-37923800	Weak transcription	Ovary	ovary
4	chr21:37920600-37923400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr21:37921800-37923000	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr21:37921800-37923800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
7	chr21:37921800-37924000	Enhancers	H1 Cell Line	embryonic stem cell
8	chr21:37922000-37928800	Enhancers	Fetal Muscle Leg	muscle
9	chr21:37922200-37923000	Enhancers	H9 Cell Line	embryonic stem cell
10	chr21:37922400-37923200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr21:37922400-37923200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr21:37922800-37923600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr21:37922800-37923800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr21:37922800-37923800	Enhancers	HSMMtube	muscle
15	chr21:37922800-37923800	Enhancers	NHDF-Ad	bronchial
16	chr21:37922800-37924000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr21:37922800-37924200	Enhancers	Liver	Liver
18	chr21:37922800-37924800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr21:37922800-37924800	Enhancers	NHLF	lung
20	chr21:37923000-37923200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr21:37923000-37923200	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
22	chr21:37923000-37923400	Bivalent Enhancer	Adipose Nuclei	Adipose
23	chr21:37923000-37923800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr21:37923000-37924000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr21:37923000-37924000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
26	chr21:37923000-37924200	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr21:37923000-37924600	Enhancers	HSMM	muscle
28	chr21:37923000-37924800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr21:37923200-37923400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr21:37923200-37923400	Bivalent Enhancer	HepG2	liver
31	chr21:37923200-37923600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr21:37923200-37924200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr21:37923200-37924200	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
34	chr21:37923200-37924600	Enhancers	Primary monocytes fromperipheralblood	blood
35	chr21:37923200-37924600	Enhancers	Fetal Kidney	kidney
36	chr21:37923200-37924800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr21:37923400-37924000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr21:37923400-37924400	Enhancers	Fetal Lung	lung
39	chr21:37923400-37924800	Enhancers	Osteobl	bone
40	chr21:37923600-37923800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr21:37923600-37924200	Bivalent Enhancer	Adipose Nuclei	Adipose
42	chr21:37923600-37924400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr21:37923600-37924400	Enhancers	NH-A	brain
44	chr21:37923600-37924600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr21:37923600-37924800	Enhancers	Monocytes-CD14+_RO01746	blood
46	chr21:37923800-37924200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr21:37923800-37924200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr21:37923800-37924200	Enhancers	Ovary	ovary
49	chr21:37923800-37924200	Flanking Active TSS	HSMMtube	muscle
50	chr21:37923800-37924400	Flanking Active TSS	NHDF-Ad	bronchial

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links