Variant report

Variant	esv3360306
Chromosome Location	chr21:45884224-45887522
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:5)
LncRNA
region (count:8)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:45882393..45885151-chr21:45897633..45899803,2	K562	blood:
2	chr21:45876142..45878920-chr21:45886862..45888726,2	MCF-7	breast:
3	chr21:45875495..45879436-chr21:45881615..45885234,3	K562	blood:
4	chr21:45880678..45882360-chr21:45884441..45886620,2	K562	blood:
5	chr21:45875194..45876834-chr21:45884507..45886571,2	MCF-7	breast:

(count:8 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LRRC3-3	chr21:45885418-45885811	NONHSAT082526
2	lnc-LRRC3-3	chr21:45885418-45885951	NONHSAT082527
3	lnc-LRRC3-3	chr21:45886057-45886068	NONHSAT082526
4	lnc-LRRC3-3	chr21:45885234-45885769	NONHSAT082525
5	lnc-LRRC3-3	chr21:45885105-45885499	NONHSAT082524
6	lnc-LRRC3-3	chr21:45885567-45886307	NONHSAT082524
7	lnc-LRRC3-3	chr21:45886057-45886068	NONHSAT082527
8	lnc-LRRC3-3	chr21:45886053-45886073	NONHSAT082525

No data

Variant related genes	Relation type
ENSG00000160233	chromatin interactions

Extended variants
information (count: 184 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:184 , 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	rs8132972	chr21:45884225-45884226	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs551833359	chr21:45884261-45884262	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs564372498	chr21:45884286-45884287	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs79766373	chr21:45884296-45884297	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs550495020	chr21:45884297-45884298	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs568660332	chr21:45884318-45884319	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs529553399	chr21:45884337-45884338	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs187358795	chr21:45884366-45884367	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs566052710	chr21:45884378-45884379	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs192265368	chr21:45884451-45884452	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs576682457	chr21:45884470-45884471	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs137931853	chr21:45884507-45884508	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs184374663	chr21:45884542-45884543	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs570701975	chr21:45884544-45884545	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs374494819	chr21:45884561-45884562	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs574495690	chr21:45884599-45884600	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs537642249	chr21:45884614-45884615	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs556278138	chr21:45884630-45884631	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs574659294	chr21:45884632-45884633	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs13048433	chr21:45884637-45884638	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs564979245	chr21:45884721-45884722	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs138724334	chr21:45884753-45884754	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs150171676	chr21:45884757-45884758	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs151186133	chr21:45884758-45884759	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs9984447	chr21:45884775-45884776	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs542078629	chr21:45884777-45884778	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs528089455	chr21:45884788-45884789	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs553378699	chr21:45884823-45884824	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs571691740	chr21:45884825-45884826	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs375653029	chr21:45884852-45884853	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs78824320	chr21:45884876-45884877	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs35177920	chr21:45884891-45884892	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs543406072	chr21:45884897-45884898	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs531386842	chr21:45884914-45884915	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs77851238	chr21:45884937-45884938	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs562277268	chr21:45884955-45884956	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs143958100	chr21:45884958-45884959	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs548089084	chr21:45885005-45885006	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs571134390	chr21:45885103-45885104	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs368717098	chr21:45885161-45885162	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
41	rs566115876	chr21:45885197-45885198	Weak transcription Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
42	rs533356635	chr21:45885205-45885206	Weak transcription Strong transcription Bivalent/Poised TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
43	rs36011733	chr21:45885275-45885276	Weak transcription Strong transcription Bivalent/Poised TSS	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs376368530	chr21:45885287-45885288	Weak transcription Strong transcription Bivalent/Poised TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
45	rs374601171	chr21:45885314-45885315	Weak transcription Strong transcription Bivalent/Poised TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
46	rs570054876	chr21:45885315-45885316	Weak transcription Strong transcription Bivalent/Poised TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
47	rs537512633	chr21:45885330-45885331	Weak transcription Strong transcription Bivalent/Poised TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
48	rs150344732	chr21:45885346-45885347	Weak transcription Strong transcription Bivalent/Poised TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
49	rs556106835	chr21:45885347-45885348	Weak transcription Strong transcription Bivalent/Poised TSS	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
50	rs568223837	chr21:45885354-45885355	Weak transcription Strong transcription Bivalent/Poised TSS	Chromatin interactive region lncRNA	1 gene(s)	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 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
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
Ewing''s sarcoma	18628472	CNVD
Leukemia	18628472	CNVD
small cell lung cancer	17426248	CNVD
Developmental delay	21147756	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45878200-45890400	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr21:45879400-45886600	Weak transcription	Fetal Brain Male	brain
3	chr21:45879400-45887800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr21:45881800-45884400	Strong transcription	Fetal Intestine Small	intestine
5	chr21:45881800-45911800	Weak transcription	Right Atrium	heart
6	chr21:45882000-45886000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr21:45882200-45885000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr21:45882200-45886400	Weak transcription	Spleen	Spleen
9	chr21:45882400-45886800	Weak transcription	Liver	Liver
10	chr21:45882800-45885200	Weak transcription	Right Ventricle	heart
11	chr21:45883000-45884600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr21:45883000-45897200	Weak transcription	Fetal Brain Female	brain
13	chr21:45883200-45884400	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr21:45883400-45884400	Bivalent Enhancer	Adipose Nuclei	Adipose
15	chr21:45883600-45884400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
16	chr21:45884000-45897200	Weak transcription	Stomach Smooth Muscle	stomach
17	chr21:45884200-45884400	Enhancers	Brain Inferior Temporal Lobe	brain
18	chr21:45884400-45896400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr21:45884400-45898600	Weak transcription	Fetal Intestine Small	intestine
20	chr21:45884600-45887600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr21:45885000-45885800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr21:45885200-45885800	Bivalent/Poised TSS	Fetal Kidney	kidney
23	chr21:45885800-45887800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr21:45886000-45886200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr21:45886000-45887800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr21:45886200-45886400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
27	chr21:45886200-45887000	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr21:45886400-45886600	Enhancers	Spleen	Spleen
29	chr21:45886600-45890200	Weak transcription	Spleen	Spleen
30	chr21:45886800-45888200	Enhancers	Liver	Liver

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