Variant report

Variant	esv1829529
Chromosome Location	chr21:46396906-46402323
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:21)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:46361267..46363821-chr21:46400005..46402889,2	K562	blood:
2	chr21:46397240..46399857-chr21:46414261..46417239,2	K562	blood:
3	chr21:46288437..46290185-chr21:46399908..46402286,2	MCF-7	breast:
4	chr21:46399144..46400887-chr21:46402281..46403943,2	MCF-7	breast:
5	chr21:46318143..46320481-chr21:46398627..46400161,2	MCF-7	breast:
6	chr21:46398242..46400941-chr21:46419716..46421408,2	K562	blood:
7	chr21:46398654..46417262-chr21:46491498..46498908,48	K562	blood:
8	chr21:46399144..46400887-chr21:46402281..46403943,2	MCF-7	breast:
9	chr21:46394940..46396856-chr21:46398540..46400419,2	MCF-7	breast:
10	chr21:45759332..45762202-chr21:46401105..46402631,2	K562	blood:
11	chr21:46398645..46400991-chr21:46405366..46407936,3	K562	blood:
12	chr21:46394559..46397632-chr21:46405352..46407463,3	MCF-7	breast:
13	chr21:46395302..46396927-chr21:46557197..46559182,2	MCF-7	breast:
14	chr21:46383670..46385580-chr21:46395404..46396964,2	MCF-7	breast:
15	chr21:46395684..46402043-chr21:46492415..46498561,16	K562	blood:
16	chr21:46401222..46403244-chr21:46420854..46422539,2	MCF-7	breast:
17	chr21:46402082..46405824-chr21:46407367..46410963,5	K562	blood:
18	chr21:46392385..46395500-chr21:46401098..46402764,3	MCF-7	breast:
19	chr21:46368902..46370547-chr21:46397253..46400112,2	MCF-7	breast:
20	chr21:46312115..46313034-chr21:46396249..46397039,3	MCF-7	breast:
21	chr21:46402184..46405162-chr21:46924152..46926827,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000261706	chromatin interactions
ENSG00000182871	chromatin interactions
ENSG00000235374	chromatin interactions
ENSG00000268856	chromatin interactions
ENSG00000160256	chromatin interactions
ENSG00000197381	chromatin interactions

Extended variants
information (count: 371 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:371 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1985483	chr21:46396906-46396907	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs542378282	chr21:46396985-46396986	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs568734112	chr21:46397015-46397016	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs532518144	chr21:46397042-46397043	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs536076087	chr21:46397056-46397057	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs59354180	chr21:46397062-46397063	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs182178737	chr21:46397064-46397065	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs569259680	chr21:46397085-46397086	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs536270020	chr21:46397106-46397107	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs554911880	chr21:46397117-46397118	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs567575807	chr21:46397148-46397149	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs534868544	chr21:46397163-46397164	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs149374716	chr21:46397166-46397167	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs1974168	chr21:46397181-46397182	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs187218396	chr21:46397182-46397183	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs188167392	chr21:46397197-46397198	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs575271125	chr21:46397215-46397216	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs542274254	chr21:46397225-46397226	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs9979407	chr21:46397280-46397281	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs528766375	chr21:46397342-46397343	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs111515496	chr21:46397346-46397347	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs60170597	chr21:46397348-46397349	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs9978713	chr21:46397349-46397350	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs13052011	chr21:46397351-46397352	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs540523917	chr21:46397364-46397365	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs143737047	chr21:46397405-46397406	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs532543439	chr21:46397435-46397436	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs551124231	chr21:46397463-46397464	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs369234746	chr21:46397480-46397481	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs569265194	chr21:46397505-46397506	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs557915330	chr21:46397557-46397558	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs190220671	chr21:46397563-46397564	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs183164208	chr21:46397566-46397567	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs148115061	chr21:46397580-46397581	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs553287656	chr21:46397607-46397608	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs369046797	chr21:46397622-46397623	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs571495758	chr21:46397626-46397627	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs576365739	chr21:46397655-46397656	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs374882662	chr21:46397674-46397675	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs543386660	chr21:46397677-46397678	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs142916260	chr21:46397704-46397705	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs186836851	chr21:46397706-46397707	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs542662688	chr21:46397757-46397758	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs554194140	chr21:46397788-46397789	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs578030230	chr21:46397799-46397800	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs572496997	chr21:46397835-46397836	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs555257873	chr21:46397847-46397848	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs368711247	chr21:46397853-46397854	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs71322599	chr21:46397876-46397877	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs565257725	chr21:46397896-46397897	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:102)

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
Congenital heart defects	20877625	CNVD
Aortic dissecting aneurysms	22263138	CNVD
Ependymoma	20639864	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:261 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46380200-46402600	Weak transcription	Aorta	Aorta
2	chr21:46382800-46404800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr21:46384200-46399600	Strong transcription	Fetal Intestine Small	intestine
4	chr21:46385000-46401400	Strong transcription	Thymus	Thymus
5	chr21:46386400-46400600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr21:46386800-46400600	Weak transcription	Small Intestine	intestine
7	chr21:46387800-46397800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr21:46387800-46399000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr21:46388600-46397600	Weak transcription	NHEK	skin
10	chr21:46388600-46398200	Strong transcription	Gastric	stomach
11	chr21:46388600-46398400	Weak transcription	Brain Angular Gyrus	brain
12	chr21:46388600-46399800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr21:46390000-46398600	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr21:46390000-46399400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr21:46390200-46399000	Weak transcription	GM12878-XiMat	blood
16	chr21:46390200-46399400	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr21:46390200-46400400	Weak transcription	Right Atrium	heart
18	chr21:46390200-46403200	Weak transcription	Brain Cingulate Gyrus	brain
19	chr21:46390200-46406400	Weak transcription	Brain Anterior Caudate	brain
20	chr21:46390400-46400600	Weak transcription	Fetal Lung	lung
21	chr21:46390400-46402600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr21:46390400-46402600	Weak transcription	HUVEC	blood vessel
23	chr21:46390400-46402800	Weak transcription	Osteobl	bone
24	chr21:46390400-46408600	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr21:46390600-46402800	Weak transcription	NHLF	lung
26	chr21:46390800-46397200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr21:46390800-46398200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr21:46391000-46399800	Strong transcription	Right Ventricle	heart
29	chr21:46391000-46402600	Weak transcription	A549	lung
30	chr21:46391000-46403600	Weak transcription	Primary hematopoietic stem cells	blood
31	chr21:46391200-46397400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr21:46391200-46398400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr21:46391200-46399800	Strong transcription	Fetal Stomach	stomach
34	chr21:46391200-46400000	Weak transcription	Fetal Heart	heart
35	chr21:46391200-46402800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr21:46391400-46399400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr21:46391800-46402600	Weak transcription	Fetal Brain Male	brain
38	chr21:46392000-46398000	Strong transcription	Primary B cells from peripheral blood	blood
39	chr21:46392000-46398200	Strong transcription	Stomach Smooth Muscle	stomach
40	chr21:46392200-46397400	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr21:46392200-46398000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr21:46392200-46398000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr21:46392200-46398200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr21:46392200-46398200	Strong transcription	Dnd41	blood
45	chr21:46392200-46398400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr21:46392200-46402600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr21:46392600-46397000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr21:46392600-46397800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr21:46392600-46398000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr21:46392600-46398400	Strong transcription	Esophagus	oesophagus

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