Variant report

Variant	esv3356605
Chromosome Location	chr21:44716824-44721122
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:12)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:44711563..44716678-chr21:44717027..44721561,5	K562	blood:
2	chr21:44717659..44719735-chr21:44721209..44723953,3	K562	blood:
3	chr21:44711563..44713322-chr21:44715719..44718527,2	K562	blood:
4	chr21:44715443..44717639-chr21:44718360..44721203,4	MCF-7	breast:
5	chr21:44720158..44722240-chr21:44729496..44731770,3	MCF-7	breast:
6	chr14:23782859..23785204-chr21:44719972..44721707,2	MCF-7	breast:
7	chr21:44705161..44709100-chr21:44718607..44720548,3	MCF-7	breast:
8	chr21:44719242..44721879-chr21:44722324..44725954,3	K562	blood:
9	chr21:44721071..44723779-chr21:44759564..44762057,2	MCF-7	breast:
10	chr21:44720724..44722581-chr21:44849591..44852069,2	MCF-7	breast:
11	chr21:44686324..44688088-chr21:44719367..44721595,2	MCF-7	breast:
12	chr21:44715443..44717639-chr21:44718360..44721203,4	MCF-7	breast:

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

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

No data

Extended variants
information (count: 253 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:253 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574398199	chr21:44716828-44716829	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs140455844	chr21:44716839-44716840	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs191303884	chr21:44716841-44716842	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs578147206	chr21:44716869-44716870	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs545567709	chr21:44716893-44716894	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs368412153	chr21:44716935-44716936	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs11089054	chr21:44716945-44716946	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs183842136	chr21:44716946-44716947	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs78961434	chr21:44716989-44716990	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs9976679	chr21:44717003-44717004	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs73909405	chr21:44717004-44717005	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs150000154	chr21:44717011-44717012	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs541472147	chr21:44717035-44717036	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs9974397	chr21:44717036-44717037	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs72562305	chr21:44717050-44717051	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs35462569	chr21:44717051-44717052	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs67790440	chr21:44717052-44717053	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs565722697	chr21:44717109-44717110	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs533195608	chr21:44717129-44717130	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs540441134	chr21:44717194-44717195	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs9983899	chr21:44717198-44717199	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs145251051	chr21:44717209-44717210	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs111474324	chr21:44717243-44717244	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs9980705	chr21:44717291-44717292	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs544699947	chr21:44717313-44717314	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs534989112	chr21:44717329-44717330	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs149178467	chr21:44717358-44717359	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs575624176	chr21:44717359-44717360	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs188615842	chr21:44717408-44717409	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs563010442	chr21:44717409-44717410	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs114592618	chr21:44717423-44717424	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs28396418	chr21:44717430-44717431	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs561325270	chr21:44717432-44717433	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs573615024	chr21:44717467-44717468	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs540958308	chr21:44717469-44717470	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs559647113	chr21:44717514-44717515	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs532938546	chr21:44717545-44717546	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs551564041	chr21:44717550-44717551	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs563739771	chr21:44717555-44717556	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs73220961	chr21:44717587-44717588	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs115851832	chr21:44717588-44717589	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs567651968	chr21:44717615-44717616	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs535062254	chr21:44717616-44717617	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs117970850	chr21:44717648-44717649	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs571915387	chr21:44717659-44717660	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs181674098	chr21:44717663-44717664	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs533511262	chr21:44717682-44717683	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs557154301	chr21:44717733-44717734	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs185076778	chr21:44717748-44717749	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs536733723	chr21:44717751-44717752	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:96)

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
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
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:44711000-44719200	Weak transcription	Right Ventricle	heart
2	chr21:44713800-44719400	Enhancers	HepG2	liver
3	chr21:44714400-44718200	Enhancers	Primary B cells from peripheral blood	blood
4	chr21:44715000-44718600	Weak transcription	Fetal Brain Male	brain
5	chr21:44715400-44718800	Weak transcription	Fetal Heart	heart
6	chr21:44715600-44718600	Weak transcription	Brain Germinal Matrix	brain
7	chr21:44715800-44717200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr21:44716400-44718200	Enhancers	Fetal Intestine Large	intestine
9	chr21:44716600-44718400	Enhancers	Fetal Intestine Small	intestine
10	chr21:44717400-44717600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr21:44717400-44717600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr21:44717400-44718000	Enhancers	Primary B cells from cord blood	blood
13	chr21:44717400-44718200	Enhancers	Spleen	Spleen
14	chr21:44717400-44719600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr21:44717400-44724400	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr21:44717600-44718400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr21:44717600-44731200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr21:44717800-44718000	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr21:44718200-44718600	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr21:44718200-44722800	Weak transcription	Spleen	Spleen
21	chr21:44718200-44723400	Weak transcription	Primary B cells from peripheral blood	blood
22	chr21:44718400-44719600	Weak transcription	Fetal Intestine Small	intestine
23	chr21:44718400-44720000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr21:44718600-44718800	Enhancers	Brain Germinal Matrix	brain
25	chr21:44718600-44719000	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
26	chr21:44718600-44719400	ZNF genes & repeats	Lung	lung
27	chr21:44718600-44720200	Enhancers	Fetal Brain Male	brain
28	chr21:44718800-44719400	Weak transcription	Brain Germinal Matrix	brain
29	chr21:44718800-44720000	Enhancers	Pancreas	Pancrea
30	chr21:44718800-44720400	Enhancers	Fetal Heart	heart
31	chr21:44718800-44726200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
32	chr21:44719000-44719200	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
33	chr21:44719000-44731000	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr21:44719200-44720000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr21:44719200-44721000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr21:44719200-44721400	Enhancers	Right Ventricle	heart
37	chr21:44719200-44722200	Enhancers	Fetal Muscle Leg	muscle
38	chr21:44719200-44722200	Enhancers	Placenta	Placenta
39	chr21:44719400-44719600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr21:44719400-44719600	Weak transcription	Lung	lung
41	chr21:44719400-44719800	Enhancers	Fetal Lung	lung
42	chr21:44719400-44720000	Enhancers	Brain Germinal Matrix	brain
43	chr21:44719400-44720200	Flanking Active TSS	HepG2	liver
44	chr21:44719600-44719800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
45	chr21:44719600-44719800	Enhancers	Left Ventricle	heart
46	chr21:44719600-44720000	Enhancers	Fetal Intestine Small	intestine
47	chr21:44719600-44720600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr21:44719600-44720800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr21:44719600-44720800	Enhancers	Lung	lung
50	chr21:44719800-44721000	Weak transcription	Fetal Lung	lung

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