Variant report

Variant	esv3359812
Chromosome Location	chr21:46437599-46440422
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	chr21:46438794..46441460-chr21:46493468..46496143,3	MCF-7	breast:
2	chr21:46435738..46437845-chr21:46799987..46802608,2	K562	blood:
3	chr11:75109351..75111789-chr21:46437907..46439514,2	MCF-7	breast:
4	chr21:46437786..46443375-chr21:46492989..46495886,7	MCF-7	breast:
5	chr21:46423846..46426006-chr21:46437541..46439221,2	MCF-7	breast:
6	chr21:46435393..46438369-chr21:46438392..46443005,5	K562	blood:
7	chr21:46419011..46421776-chr21:46438600..46440375,2	MCF-7	breast:
8	chr21:46435393..46438369-chr21:46438392..46443005,5	K562	blood:
9	chr21:46439551..46442292-chr21:46453703..46456078,2	K562	blood:
10	chr21:46435476..46441041-chr21:46492347..46496341,11	K562	blood:
11	chr21:46438270..46441170-chr21:46454432..46456069,2	MCF-7	breast:
12	chr21:46437084..46440901-chr21:46492092..46496005,8	K562	blood:
13	chr21:46432300..46434724-chr21:46436959..46438911,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000197381	chromatin interactions
ENSG00000206941	chromatin interactions
ENSG00000268856	chromatin interactions
ENSG00000235374	chromatin interactions
ENSG00000149273	chromatin interactions
ENSG00000224930	chromatin interactions

Extended variants
information (count: 106 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:106 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536954439	chr21:46437599-46437600	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs555291759	chr21:46437605-46437606	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs573404244	chr21:46437609-46437610	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs364010	chr21:46437614-46437615	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs364011	chr21:46437620-46437621	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs364012	chr21:46437635-46437636	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs138473825	chr21:46437637-46437638	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs558819153	chr21:46437643-46437644	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs77471220	chr21:46437672-46437673	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs544272743	chr21:46437678-46437679	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs537356070	chr21:46437752-46437753	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs562548438	chr21:46437757-46437758	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs62214547	chr21:46437771-46437772	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs548684773	chr21:46437772-46437773	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs202186734	chr21:46437773-46437774	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs529998037	chr21:46437779-46437780	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs79667572	chr21:46437788-46437789	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs542555422	chr21:46437840-46437841	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs373582183	chr21:46437885-46437886	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs562206117	chr21:46437950-46437951	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
21	rs565193643	chr21:46437959-46437960	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
22	rs528305694	chr21:46437973-46437974	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
23	rs546785512	chr21:46437975-46437976	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
24	rs564900298	chr21:46437997-46437998	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
25	rs532432322	chr21:46438000-46438001	Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
26	rs189674169	chr21:46438012-46438013	Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
27	rs544446245	chr21:46438042-46438043	Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
28	rs371992771	chr21:46438044-46438045	Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
29	rs550654371	chr21:46438050-46438051	Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
30	rs562698520	chr21:46438053-46438054	Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
31	rs561195385	chr21:46438075-46438076	Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
32	rs182296305	chr21:46438109-46438110	Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
33	rs188434846	chr21:46438132-46438133	Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
34	rs149289361	chr21:46438135-46438136	Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
35	rs529789479	chr21:46438160-46438161	Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
36	rs192664071	chr21:46438173-46438174	Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
37	rs566028383	chr21:46438212-46438213	Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
38	rs567137606	chr21:46438244-46438245	Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
39	rs534193496	chr21:46438253-46438254	Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
40	rs559129004	chr21:46438287-46438288	Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
41	rs577321114	chr21:46438330-46438331	Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
42	rs537961086	chr21:46438340-46438341	Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
43	rs556232024	chr21:46438385-46438386	Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
44	rs574541800	chr21:46438450-46438451	Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
45	rs375317825	chr21:46438469-46438470	Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
46	rs139384263	chr21:46438495-46438496	Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
47	rs142695930	chr21:46438629-46438630	Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
48	rs200457713	chr21:46438643-46438644	Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
49	rs11700685	chr21:46438697-46438698	Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
50	rs560250562	chr21:46438762-46438763	Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:101)

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
Breast cancer	21858162	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	17899364	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	20473283	CNVD
Chordoma	18071362	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
Prostate cancer	18632612	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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	17426248	CNVD
Developmental delay	21147756	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	23813976	CNVD
Aortic dissecting aneurysms	22263138	CNVD
Williams-beuren syndrome	16826523	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:282 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46432000-46438400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr21:46432800-46438000	Weak transcription	Gastric	stomach
3	chr21:46432800-46438200	Weak transcription	Right Atrium	heart
4	chr21:46433000-46438000	Weak transcription	Psoas Muscle	Psoas
5	chr21:46433200-46438000	Weak transcription	Lung	lung
6	chr21:46433200-46438200	Weak transcription	Aorta	Aorta
7	chr21:46433400-46438000	Weak transcription	Pancreas	Pancrea
8	chr21:46433600-46439200	Weak transcription	HSMMtube	muscle
9	chr21:46434200-46438000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
10	chr21:46434400-46438400	Weak transcription	Osteobl	bone
11	chr21:46434600-46438000	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr21:46434600-46438200	Bivalent Enhancer	Fetal Stomach	stomach
13	chr21:46435000-46437800	Enhancers	Fetal Muscle Leg	muscle
14	chr21:46435600-46438400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr21:46435800-46437800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr21:46435800-46439200	Weak transcription	Fetal Heart	heart
17	chr21:46436000-46438200	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr21:46436000-46438200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
19	chr21:46436200-46441200	Enhancers	Muscle Satellite Cultured Cells	--
20	chr21:46436400-46438000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr21:46436400-46438200	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr21:46436400-46438400	Enhancers	Skeletal Muscle Female	skeletal muscle
23	chr21:46436400-46438600	Enhancers	Spleen	Spleen
24	chr21:46436600-46438800	Enhancers	Fetal Brain Male	brain
25	chr21:46436800-46438000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr21:46436800-46438000	Bivalent Enhancer	Fetal Lung	lung
27	chr21:46436800-46438200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr21:46436800-46438200	Enhancers	HUVEC	blood vessel
29	chr21:46436800-46440200	Enhancers	NH-A	brain
30	chr21:46437000-46438000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr21:46437000-46438000	Enhancers	NHLF	lung
32	chr21:46437000-46438200	Weak transcription	Left Ventricle	heart
33	chr21:46437200-46437600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr21:46437200-46438000	Bivalent Enhancer	Placenta	Placenta
35	chr21:46437200-46438200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr21:46437200-46438400	Flanking Active TSS	NHEK	skin
37	chr21:46437200-46439400	Enhancers	Esophagus	oesophagus
38	chr21:46437200-46439600	Enhancers	HMEC	breast
39	chr21:46437400-46437800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr21:46437400-46438000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr21:46437400-46438000	Enhancers	Stomach Smooth Muscle	stomach
42	chr21:46437400-46438200	Enhancers	Right Ventricle	heart
43	chr21:46437400-46438600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr21:46437400-46439000	Weak transcription	HSMM	muscle
45	chr21:46437600-46438000	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
46	chr21:46437600-46438200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
47	chr21:46437600-46438200	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
48	chr21:46437600-46438400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr21:46437600-46438400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
50	chr21:46437800-46438000	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood

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