Variant report

Variant	esv3341452
Chromosome Location	chr21:46254949-46257697
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:24)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:24 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:46235858..46241119-chr21:46254955..46260994,15	MCF-7	breast:
2	chr21:46254101..46256676-chr21:46273312..46275198,2	K562	blood:
3	chr21:46219746..46220652-chr21:46256461..46257271,3	MCF-7	breast:
4	chr21:46255059..46257410-chr21:46492878..46495780,2	K562	blood:
5	chr21:46220501..46225374-chr21:46254982..46260084,8	K562	blood:
6	chr21:46247527..46250917-chr21:46254935..46257168,7	K562	blood:
7	chr21:46252951..46256726-chr21:46257556..46259832,3	K562	blood:
8	chr21:46252951..46256726-chr21:46257556..46259832,3	K562	blood:
9	chr21:46253493..46258173-chr21:46289318..46293722,5	K562	blood:
10	chr21:46255114..46256844-chr21:46426202..46428883,2	MCF-7	breast:
11	chr21:46219617..46224872-chr21:46254277..46260376,11	MCF-7	breast:
12	chr21:46253846..46255702-chr21:46270188..46272414,2	MCF-7	breast:
13	chr21:46256501..46259929-chr21:46346281..46348601,3	MCF-7	breast:
14	chr21:46251390..46253275-chr21:46253661..46255396,2	MCF-7	breast:
15	chr21:46256405..46259532-chr21:46270974..46273137,3	K562	blood:
16	chr21:46253994..46255764-chr21:46292372..46294821,2	K562	blood:
17	chr21:46255862..46258104-chr21:46297344..46299707,2	K562	blood:
18	chr21:46256501..46258560-chr21:46321252..46323907,2	MCF-7	breast:
19	chr21:46246854..46250017-chr21:46253859..46256636,3	MCF-7	breast:
20	chr21:46247527..46251136-chr21:46253947..46257899,9	K562	blood:
21	chr21:46234514..46239857-chr21:46252461..46259659,16	MCF-7	breast:
22	chr21:46254339..46258988-chr21:46290950..46295113,5	MCF-7	breast:
23	chr21:46256640..46259099-chr21:46259319..46260934,2	MCF-7	breast:
24	chr21:46254444..46259889-chr21:46289030..46296551,8	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000236519	chromatin interactions
ENSG00000268856	chromatin interactions
ENSG00000235374	chromatin interactions
ENSG00000197381	chromatin interactions
ENSG00000183255	chromatin interactions
ENSG00000184900	chromatin interactions
ENSG00000184787	chromatin interactions

Extended variants
information (count: 151 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:151 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs151060285	chr21:46254965-46254966	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs569793779	chr21:46254972-46254973	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs573001482	chr21:46254988-46254989	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs549075604	chr21:46255025-46255026	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs539988598	chr21:46255030-46255031	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs139733218	chr21:46255031-46255032	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs533768491	chr21:46255033-46255034	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs564682776	chr21:46255044-46255045	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs554035172	chr21:46255083-46255084	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
10	rs8131625	chr21:46255084-46255085	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs539618709	chr21:46255108-46255109	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
12	rs557906323	chr21:46255139-46255140	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
13	rs532066803	chr21:46255140-46255141	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
14	rs576170691	chr21:46255143-46255144	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
15	rs146837964	chr21:46255156-46255157	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
16	rs13051277	chr21:46255162-46255163	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs140671521	chr21:46255173-46255174	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
18	rs541401333	chr21:46255192-46255193	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
19	rs9808690	chr21:46255195-46255196	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs8133302	chr21:46255215-46255216	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs8132841	chr21:46255231-46255232	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs9808742	chr21:46255242-46255243	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs540011794	chr21:46255246-46255247	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
24	rs538861829	chr21:46255250-46255251	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
25	rs561175398	chr21:46255258-46255259	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
26	rs528480522	chr21:46255262-46255263	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
27	rs547400854	chr21:46255278-46255279	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
28	rs75707749	chr21:46255292-46255293	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
29	rs8127770	chr21:46255298-46255299	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs573296288	chr21:46255306-46255307	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
31	rs17004706	chr21:46255317-46255318	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs144488726	chr21:46255327-46255328	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
33	rs62220120	chr21:46255350-46255351	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
34	rs74912799	chr21:46255359-46255360	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
35	rs573988751	chr21:46255420-46255421	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
36	rs573589857	chr21:46255427-46255428	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
37	rs544469383	chr21:46255431-46255432	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
38	rs146644375	chr21:46255438-46255439	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
39	rs577883318	chr21:46255446-46255447	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
40	rs374474282	chr21:46255447-46255448	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
41	rs545207950	chr21:46255483-46255484	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
42	rs376050780	chr21:46255497-46255498	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
43	rs140234187	chr21:46255538-46255539	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
44	rs4818979	chr21:46255596-46255597	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs542797947	chr21:46255605-46255606	Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
46	rs561408305	chr21:46255670-46255671	Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
47	rs528496247	chr21:46255716-46255717	Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
48	rs546936562	chr21:46255717-46255718	Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
49	rs559692840	chr21:46255748-46255749	Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
50	rs76101671	chr21:46255764-46255765	Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:98)

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
Lymphoma	21487021	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46251600-46256400	Weak transcription	Fetal Thymus	thymus
2	chr21:46252000-46256400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr21:46253200-46256600	Weak transcription	Right Atrium	heart
4	chr21:46253400-46256800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr21:46254000-46255400	Enhancers	Spleen	Spleen
6	chr21:46254000-46256400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr21:46254400-46255400	Enhancers	Gastric	stomach
8	chr21:46254400-46255800	Enhancers	Stomach Mucosa	stomach
9	chr21:46254400-46256600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr21:46254600-46256400	Weak transcription	Pancreas	Pancrea
11	chr21:46254800-46256400	Enhancers	K562	blood
12	chr21:46255000-46255800	Bivalent Enhancer	HepG2	liver
13	chr21:46255000-46256600	Enhancers	Rectal Mucosa Donor 31	rectum
14	chr21:46255200-46255400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr21:46255200-46255400	Enhancers	Rectal Mucosa Donor 29	rectum
16	chr21:46255200-46255800	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
17	chr21:46255200-46257200	Enhancers	Right Ventricle	heart
18	chr21:46255200-46257600	Enhancers	Duodenum Mucosa	Duodenum
19	chr21:46255400-46255600	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
20	chr21:46255400-46256400	Weak transcription	Gastric	stomach
21	chr21:46255400-46256400	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr21:46255400-46256400	Weak transcription	Spleen	Spleen
23	chr21:46255400-46257000	Enhancers	Fetal Muscle Trunk	muscle
24	chr21:46255400-46258800	Enhancers	Fetal Muscle Leg	muscle
25	chr21:46255600-46255800	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr21:46255600-46255800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr21:46255600-46257000	Enhancers	Brain Anterior Caudate	brain
28	chr21:46255600-46257400	Enhancers	Placenta	Placenta
29	chr21:46255800-46256600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr21:46256400-46256600	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr21:46256400-46256600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr21:46256400-46256600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr21:46256400-46256600	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
34	chr21:46256400-46256600	Enhancers	Spleen	Spleen
35	chr21:46256400-46256600	Enhancers	HSMM	muscle
36	chr21:46256400-46256600	Flanking Active TSS	NHDF-Ad	bronchial
37	chr21:46256400-46256800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr21:46256400-46256800	Enhancers	HUES6 Cell Line	embryonic stem cell
39	chr21:46256400-46256800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr21:46256400-46256800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr21:46256400-46256800	Enhancers	Brain Angular Gyrus	brain
42	chr21:46256400-46256800	Enhancers	Fetal Lung	lung
43	chr21:46256400-46256800	Bivalent Enhancer	Fetal Stomach	stomach
44	chr21:46256400-46256800	Enhancers	Fetal Thymus	thymus
45	chr21:46256400-46256800	Flanking Active TSS	K562	blood
46	chr21:46256400-46257000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr21:46256400-46257000	Enhancers	Primary hematopoietic stem cells short term culture	blood
48	chr21:46256400-46257000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr21:46256400-46257000	Enhancers	Adipose Nuclei	Adipose
50	chr21:46256400-46257000	Enhancers	Brain Hippocampus Middle	brain

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