Variant report

Variant	esv3423340
Chromosome Location	chr21:46255574-46258372
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	chr21:46255114..46256844-chr21:46426202..46428883,2	MCF-7	breast:
2	chr21:46219746..46220652-chr21:46256461..46257271,3	MCF-7	breast:
3	chr21:46254101..46256676-chr21:46273312..46275198,2	K562	blood:
4	chr21:46253493..46258173-chr21:46289318..46293722,5	K562	blood:
5	chr21:46254444..46259889-chr21:46289030..46296551,8	MCF-7	breast:
6	chr21:46219617..46224872-chr21:46254277..46260376,11	MCF-7	breast:
7	chr21:46256501..46258560-chr21:46321252..46323907,2	MCF-7	breast:
8	chr21:46255059..46257410-chr21:46492878..46495780,2	K562	blood:
9	chr21:46220501..46225374-chr21:46254982..46260084,8	K562	blood:
10	chr21:46256501..46259929-chr21:46346281..46348601,3	MCF-7	breast:
11	chr21:46256640..46259099-chr21:46259319..46260934,2	MCF-7	breast:
12	chr21:46252951..46256726-chr21:46257556..46259832,3	K562	blood:
13	chr21:46254339..46258988-chr21:46290950..46295113,5	MCF-7	breast:
14	chr21:46252951..46256726-chr21:46257556..46259832,3	K562	blood:
15	chr21:46253994..46255764-chr21:46292372..46294821,2	K562	blood:
16	chr21:46246854..46250017-chr21:46253859..46256636,3	MCF-7	breast:
17	chr21:46256405..46259532-chr21:46270974..46273137,3	K562	blood:
18	chr21:46253846..46255702-chr21:46270188..46272414,2	MCF-7	breast:
19	chr21:46234514..46239857-chr21:46252461..46259659,16	MCF-7	breast:
20	chr21:46255862..46258104-chr21:46297344..46299707,2	K562	blood:
21	chr21:46257986..46260009-chr21:46368345..46370493,2	MCF-7	breast:
22	chr21:46247527..46250917-chr21:46254935..46257168,7	K562	blood:
23	chr21:46247527..46251136-chr21:46253947..46257899,9	K562	blood:
24	chr21:46235858..46241119-chr21:46254955..46260994,15	MCF-7	breast:

No data

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

Extended variants
information (count: 156 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:156 , 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	rs4818979	chr21:46255596-46255597	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs542797947	chr21:46255605-46255606	Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
3	rs561408305	chr21:46255670-46255671	Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
4	rs528496247	chr21:46255716-46255717	Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
5	rs546936562	chr21:46255717-46255718	Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
6	rs559692840	chr21:46255748-46255749	Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
7	rs76101671	chr21:46255764-46255765	Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
8	rs551697437	chr21:46255773-46255774	Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
9	rs113096839	chr21:46255774-46255775	Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
10	rs73372549	chr21:46255779-46255780	Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer	Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs76496919	chr21:46255802-46255803	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
12	rs75847000	chr21:46255804-46255805	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
13	rs534337989	chr21:46255809-46255810	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
14	rs75981780	chr21:46255812-46255813	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
15	rs577922359	chr21:46255813-46255814	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
16	rs143468672	chr21:46255817-46255818	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
17	rs557225829	chr21:46255836-46255837	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
18	rs575786046	chr21:46255849-46255850	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
19	rs181428380	chr21:46255851-46255852	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
20	rs554778059	chr21:46255874-46255875	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
21	rs573246362	chr21:46255880-46255881	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
22	rs200225108	chr21:46255897-46255898	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
23	rs201438916	chr21:46255987-46255988	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
24	rs202224081	chr21:46256086-46256087	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
25	rs540633376	chr21:46256097-46256098	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
26	rs565324417	chr21:46256099-46256100	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
27	rs532541523	chr21:46256226-46256227	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
28	rs545356012	chr21:46256227-46256228	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
29	rs184745763	chr21:46256261-46256262	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
30	rs554848846	chr21:46256339-46256340	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
31	rs190203775	chr21:46256345-46256346	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
32	rs573049283	chr21:46256369-46256370	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
33	rs527444841	chr21:46256416-46256417	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
34	rs530639962	chr21:46256554-46256555	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
35	rs549127433	chr21:46256625-46256626	Enhancers Genic enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
36	rs567260487	chr21:46256641-46256642	Enhancers Genic enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
37	rs528143116	chr21:46256646-46256647	Enhancers Genic enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
38	rs546288132	chr21:46256650-46256651	Enhancers Genic enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
39	rs570953450	chr21:46256659-46256660	Enhancers Genic enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
40	rs28407524	chr21:46256694-46256695	Enhancers Genic enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs557250608	chr21:46256699-46256700	Enhancers Genic enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
42	rs114928615	chr21:46256793-46256794	Enhancers Genic enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
43	rs4818735	chr21:46256800-46256801	Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs140751997	chr21:46256823-46256824	Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
45	rs150120030	chr21:46256868-46256869	Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
46	rs540769494	chr21:46256869-46256870	Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
47	rs72537441	chr21:46256896-46256897	Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
48	rs741949	chr21:46256897-46256898	Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs138793258	chr21:46256912-46256913	Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
50	rs544589522	chr21:46256926-46256927	Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh	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:128 , 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	chr21:46254000-46256400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr21:46254400-46255800	Enhancers	Stomach Mucosa	stomach
7	chr21:46254400-46256600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr21:46254600-46256400	Weak transcription	Pancreas	Pancrea
9	chr21:46254800-46256400	Enhancers	K562	blood
10	chr21:46255000-46255800	Bivalent Enhancer	HepG2	liver
11	chr21:46255000-46256600	Enhancers	Rectal Mucosa Donor 31	rectum
12	chr21:46255200-46255800	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
13	chr21:46255200-46257200	Enhancers	Right Ventricle	heart
14	chr21:46255200-46257600	Enhancers	Duodenum Mucosa	Duodenum
15	chr21:46255400-46255600	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
16	chr21:46255400-46256400	Weak transcription	Gastric	stomach
17	chr21:46255400-46256400	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr21:46255400-46256400	Weak transcription	Spleen	Spleen
19	chr21:46255400-46257000	Enhancers	Fetal Muscle Trunk	muscle
20	chr21:46255400-46258800	Enhancers	Fetal Muscle Leg	muscle
21	chr21:46255600-46255800	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr21:46255600-46255800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr21:46255600-46257000	Enhancers	Brain Anterior Caudate	brain
24	chr21:46255600-46257400	Enhancers	Placenta	Placenta
25	chr21:46255800-46256600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr21:46256400-46256600	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr21:46256400-46256600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr21:46256400-46256600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr21:46256400-46256600	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
30	chr21:46256400-46256600	Enhancers	Spleen	Spleen
31	chr21:46256400-46256600	Enhancers	HSMM	muscle
32	chr21:46256400-46256600	Flanking Active TSS	NHDF-Ad	bronchial
33	chr21:46256400-46256800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr21:46256400-46256800	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr21:46256400-46256800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr21:46256400-46256800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr21:46256400-46256800	Enhancers	Brain Angular Gyrus	brain
38	chr21:46256400-46256800	Enhancers	Fetal Lung	lung
39	chr21:46256400-46256800	Bivalent Enhancer	Fetal Stomach	stomach
40	chr21:46256400-46256800	Enhancers	Fetal Thymus	thymus
41	chr21:46256400-46256800	Flanking Active TSS	K562	blood
42	chr21:46256400-46257000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr21:46256400-46257000	Enhancers	Primary hematopoietic stem cells short term culture	blood
44	chr21:46256400-46257000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr21:46256400-46257000	Enhancers	Adipose Nuclei	Adipose
46	chr21:46256400-46257000	Enhancers	Brain Hippocampus Middle	brain
47	chr21:46256400-46257000	Bivalent Enhancer	Brain Inferior Temporal Lobe	brain
48	chr21:46256400-46257000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
49	chr21:46256400-46257000	Enhancers	Brain Substantia Nigra	brain
50	chr21:46256400-46257000	Enhancers	Duodenum Smooth Muscle	Duodenum

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