Variant report

Variant	nsv913833
Chromosome Location	chr21:44690691-44728354
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:62)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:62 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr21:44711563..44716678-chr21:44717027..44721561,5	K562	blood:
2	chr21:44711563..44716678-chr21:44717027..44721561,5	K562	blood:
3	chr21:44613209..44615263-chr21:44702537..44704678,2	MCF-7	breast:
4	chr21:44714739..44716356-chr21:44724057..44727021,2	MCF-7	breast:
5	chr21:44692409..44695205-chr21:44696086..44698307,2	MCF-7	breast:
6	chr21:44693342..44695440-chr21:44702341..44704314,2	K562	blood:
7	chr21:44727094..44729103-chr21:44732251..44734088,2	K562	blood:
8	chr21:44714739..44716356-chr21:44724057..44727021,2	MCF-7	breast:
9	chr21:44693692..44695887-chr21:44767951..44769747,2	MCF-7	breast:
10	chr21:44715443..44717639-chr21:44718360..44721203,4	MCF-7	breast:
11	chr21:44706813..44710200-chr21:44846120..44848407,3	MCF-7	breast:
12	chr21:44726831..44728745-chr21:44729014..44732051,4	MCF-7	breast:
13	chr21:44722178..44723995-chr21:44739075..44740998,2	K562	blood:
14	chr21:44706630..44710159-chr21:44845501..44847400,4	MCF-7	breast:
15	chr21:44709764..44710516-chr9:132227150..132227921,2	MCF-7	breast:
16	chr21:44720158..44722240-chr21:44729496..44731770,3	MCF-7	breast:
17	chr21:44726728..44729245-chr21:44741716..44743499,2	K562	blood:
18	chr21:44699022..44704261-chr21:44706186..44710615,5	MCF-7	breast:
19	chr21:44687196..44688709-chr21:44692314..44695246,2	K562	blood:
20	chr21:44687521..44690737-chr21:44694718..44697529,3	K562	blood:
21	chr21:44702803..44705781-chr21:44760517..44763058,2	MCF-7	breast:
22	chr21:44686324..44688088-chr21:44719367..44721595,2	MCF-7	breast:
23	chr21:44707328..44709243-chr21:44761426..44763987,2	MCF-7	breast:
24	chr21:44689710..44692287-chr21:44845127..44848350,5	MCF-7	breast:
25	chr21:44707026..44709584-chr21:44711825..44714234,4	MCF-7	breast:
26	chr21:44692899..44694437-chr21:44921106..44922799,2	MCF-7	breast:
27	chr21:44692409..44695205-chr21:44696086..44698307,2	MCF-7	breast:
28	chr21:44727065..44728697-chr21:44937489..44939216,2	MCF-7	breast:
29	chr21:44705161..44709100-chr21:44718607..44720548,3	MCF-7	breast:
30	chr21:44722277..44726277-chr21:44726725..44730096,4	MCF-7	breast:
31	chr21:44717659..44719735-chr21:44721209..44723953,3	K562	blood:
32	chr21:44705161..44709100-chr21:44718607..44720548,3	MCF-7	breast:
33	chr21:44721071..44723779-chr21:44759564..44762057,2	MCF-7	breast:
34	chr21:44728233..44730962-chr21:44748665..44750400,2	MCF-7	breast:
35	chr21:44710146..44712440-chr21:44740183..44742844,2	MCF-7	breast:
36	chr21:44595581..44597977-chr21:44722947..44725523,2	K562	blood:
37	chr21:44711563..44713322-chr21:44715719..44718527,2	K562	blood:
38	chr21:44719242..44721879-chr21:44722324..44725954,3	K562	blood:
39	chr21:44722495..44724442-chr21:44739075..44741261,2	K562	blood:
40	chr21:44706940..44709706-chr21:44752216..44754417,2	MCF-7	breast:
41	chr21:44687521..44690737-chr21:44694718..44697529,3	K562	blood:
42	chr21:44715443..44717639-chr21:44718360..44721203,4	MCF-7	breast:
43	chr21:44591547..44593428-chr21:44700375..44702844,2	K562	blood:
44	chr21:44717659..44719735-chr21:44721209..44723953,3	K562	blood:
45	chr21:44720724..44722581-chr21:44849591..44852069,2	MCF-7	breast:
46	chr21:44699022..44704261-chr21:44706186..44710615,5	MCF-7	breast:
47	chr21:44699112..44702350-chr21:44708742..44712038,3	K562	blood:
48	chr21:44621829..44623825-chr21:44707236..44708911,2	MCF-7	breast:
49	chr21:44693342..44695440-chr21:44702341..44704314,2	K562	blood:
50	chr14:23782859..23785204-chr21:44719972..44721707,2	MCF-7	breast:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CRYAA-15	chr21:44721906-44722851	l_2225_chr21:44719532-44722851_ovary
2	lnc-CRYAA-15	chr21:44721540-44721875	l_2225_chr21:44719532-44722851_ovary
3	lnc-CRYAA-15	chr21:44719842-44720160	l_2225_chr21:44719532-44722851_ovary
4	lnc-CRYAA-15	chr21:44719533-44719828	l_2225_chr21:44719532-44722851_ovary

No data

Variant related genes	Relation type
ENSG00000142178	chromatin interactions

Extended variants
information (count: 1405 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:1405 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2838225	chr21:44690691-44690692	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs117049096	chr21:44690739-44690740	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs543164789	chr21:44690741-44690742	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs530763120	chr21:44690747-44690748	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs150840357	chr21:44690856-44690857	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs112789589	chr21:44690912-44690913	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs375867922	chr21:44690926-44690927	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs199999318	chr21:44691061-44691062	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs11700472	chr21:44691106-44691107	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs555298211	chr21:44691193-44691194	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs200943119	chr21:44691243-44691244	Weak transcription Genic enhancers Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs138496442	chr21:44691270-44691271	Weak transcription Genic enhancers Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs371638148	chr21:44691406-44691407	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs544725549	chr21:44691456-44691457	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs117497971	chr21:44691463-44691464	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs568664108	chr21:44691477-44691478	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs563553113	chr21:44691615-44691616	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs113488507	chr21:44691733-44691734	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs118153903	chr21:44691806-44691807	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs374193390	chr21:44691841-44691842	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs202187195	chr21:44691854-44691855	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs567325600	chr21:44691855-44691856	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs376215308	chr21:44691894-44691895	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs371651520	chr21:44692117-44692118	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs377025948	chr21:44692190-44692191	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs576496409	chr21:44692250-44692251	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs373672693	chr21:44692254-44692255	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs571814349	chr21:44692306-44692307	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs117184908	chr21:44692326-44692327	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs538984563	chr21:44692351-44692352	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs144025638	chr21:44692364-44692365	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs569497418	chr21:44692389-44692390	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs536568179	chr21:44692392-44692393	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs118031621	chr21:44692443-44692444	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs371240156	chr21:44692493-44692494	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs372918044	chr21:44692558-44692559	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs555274824	chr21:44692598-44692599	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs573088978	chr21:44692600-44692601	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs537616524	chr21:44692672-44692673	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs111547698	chr21:44692698-44692699	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs17004515	chr21:44692863-44692864	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs369763005	chr21:44692873-44692874	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs374209241	chr21:44692961-44692962	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs113881620	chr21:44692970-44692971	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs540466652	chr21:44692997-44692998	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs9976875	chr21:44693038-44693039	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs386819031	chr21:44693064-44693065	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs201704499	chr21:44693066-44693067	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs552648756	chr21:44693070-44693071	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs377078750	chr21:44693072-44693073	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:99)

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
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
Hodgkin''s lymphoma	18641027	CNVD
Breast cancer	21858162	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	17899364	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	20473283	CNVD
Chordoma	18071362	CNVD
Breast cancer	21364760	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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Prostate cancer	18632612	CNVD
Neuroblastoma	20406844	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 cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:632 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:44686800-44691800	Enhancers	Fetal Brain Male	brain
2	chr21:44687200-44691800	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr21:44687400-44691800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
4	chr21:44687800-44691400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr21:44687800-44691800	Enhancers	Fetal Brain Female	brain
6	chr21:44688400-44690800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr21:44688600-44693600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr21:44688600-44697400	Weak transcription	Fetal Heart	heart
9	chr21:44689200-44691800	Bivalent Enhancer	Fetal Stomach	stomach
10	chr21:44689400-44690800	Weak transcription	Brain Anterior Caudate	brain
11	chr21:44689400-44691600	Enhancers	Ovary	ovary
12	chr21:44689600-44693800	Enhancers	Fetal Lung	lung
13	chr21:44689800-44692800	Weak transcription	Spleen	Spleen
14	chr21:44689800-44693400	Weak transcription	Liver	Liver
15	chr21:44690000-44691200	Weak transcription	Fetal Intestine Small	intestine
16	chr21:44690000-44694600	Weak transcription	A549	lung
17	chr21:44690200-44690800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr21:44690200-44691200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr21:44690200-44691200	Flanking Active TSS	Brain Germinal Matrix	brain
20	chr21:44690200-44691800	Enhancers	Fetal Muscle Leg	muscle
21	chr21:44690400-44691200	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr21:44690400-44691400	Enhancers	Brain Cingulate Gyrus	brain
23	chr21:44690600-44691000	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr21:44690600-44691200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr21:44690600-44691200	Enhancers	Brain Angular Gyrus	brain
26	chr21:44690600-44691200	Enhancers	Brain Inferior Temporal Lobe	brain
27	chr21:44690600-44691200	Enhancers	Brain Substantia Nigra	brain
28	chr21:44690600-44691400	Bivalent Enhancer	Brain Hippocampus Middle	brain
29	chr21:44690600-44692400	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr21:44690800-44691000	Enhancers	Brain Anterior Caudate	brain
31	chr21:44690800-44691000	Bivalent Enhancer	Rectal Smooth Muscle	rectum
32	chr21:44690800-44691000	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
33	chr21:44690800-44691000	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
34	chr21:44690800-44691000	Bivalent Enhancer	NH-A	brain
35	chr21:44690800-44691200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
36	chr21:44690800-44691400	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr21:44691000-44691200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
38	chr21:44691000-44691400	Bivalent Enhancer	Stomach Smooth Muscle	stomach
39	chr21:44691000-44693800	Weak transcription	Brain Anterior Caudate	brain
40	chr21:44691200-44691400	Enhancers	Fetal Intestine Small	intestine
41	chr21:44691200-44692600	Enhancers	Brain Germinal Matrix	brain
42	chr21:44691200-44694800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr21:44691200-44695000	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr21:44691200-44697400	Weak transcription	Brain Angular Gyrus	brain
45	chr21:44691400-44691600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr21:44691400-44691600	Bivalent Enhancer	HepG2	liver
47	chr21:44691600-44691800	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
48	chr21:44691600-44693600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr21:44691800-44692200	Weak transcription	Fetal Muscle Leg	muscle
50	chr21:44691800-44694200	Weak transcription	Fetal Brain Male	brain

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