Variant report

Variant	nsv913428
Chromosome Location	chr21:18373340-18425733
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:3)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:18422543..18424545-chr21:18477061..18478975,2	MCF-7	breast:
2	chr21:18417207..18417875-chr21:18518633..18519255,2	MCF-7	breast:
3	chr21:18314784..18315706-chr21:18417520..18418311,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-BTG3-2	chr21:18386480-18386536	NONHSAT081269
2	lnc-BTG3-2	chr21:18382323-18382639	NONHSAT081269
3	lnc-BTG3-2	chr21:18386481-18386536	XLOC_014010
4	lnc-BTG3-2	chr21:18382324-18382639	XLOC_014010

No data

Variant related genes	Relation type
ARID1B	miRNA target sites
PGAM4	miRNA target sites

Extended variants
information (count: 1100 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:1100 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs8129957	chr21:18373340-18373341	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
2	rs569562578	chr21:18373375-18373376	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs60626192	chr21:18373379-18373380	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs376090406	chr21:18373385-18373386	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs538495370	chr21:18373402-18373403	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs558537613	chr21:18373409-18373410	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs181067013	chr21:18373437-18373438	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs571861481	chr21:18373444-18373445	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs187345973	chr21:18373522-18373523	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs112140398	chr21:18373554-18373555	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs553953896	chr21:18373555-18373556	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs190518776	chr21:18373594-18373595	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs73375664	chr21:18373749-18373750	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs556474363	chr21:18373772-18373773	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs181719980	chr21:18373798-18373799	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs186171935	chr21:18373799-18373800	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs141360597	chr21:18373813-18373814	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs145136410	chr21:18373828-18373829	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs574626300	chr21:18373905-18373906	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs140878086	chr21:18373907-18373908	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs560192708	chr21:18373950-18373951	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs73195408	chr21:18373975-18373976	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs557637894	chr21:18373978-18373979	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs374446332	chr21:18374059-18374060	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs397785027	chr21:18374062-18374063	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs540797262	chr21:18374069-18374070	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs113571761	chr21:18374076-18374077	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs140439860	chr21:18374089-18374090	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs150414284	chr21:18374091-18374092	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs17242117	chr21:18374092-18374093	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs112950406	chr21:18374107-18374108	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs75502000	chr21:18374110-18374111	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs532188008	chr21:18374157-18374158	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs149580214	chr21:18374196-18374197	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs147278862	chr21:18374201-18374202	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs138068760	chr21:18374242-18374243	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs553589922	chr21:18374251-18374252	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs116749913	chr21:18374329-18374330	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs567761367	chr21:18374335-18374336	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs573004709	chr21:18374390-18374391	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs190099594	chr21:18374408-18374409	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs143640635	chr21:18374410-18374411	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs182699635	chr21:18374433-18374434	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs545026528	chr21:18374467-18374468	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs185896362	chr21:18374471-18374472	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs78739380	chr21:18374511-18374512	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs531609035	chr21:18374523-18374524	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs540978927	chr21:18374535-18374536	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs147216735	chr21:18374579-18374580	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs574594328	chr21:18374581-18374582	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

Disease	PMID	Source
Ovarian cancer	21720365	CNVD
Wilms tumour	21544195	CNVD
Esophageal cancer	21851588	CNVD
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
T-cell lymphomas	19863542	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
Acute lymphoblastic leukemia	21980252	CNVD
Metanephric adenoma	20802469	CNVD
Neuroblastoma	18923191	CNVD
Prostate cancer	19156837	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Cancer	20164919	CNVD
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
lymphocytic leukemia	21291569	CNVD
Hodgkin''s lymphoma	18641027	CNVD
abnormal development	18461090	CNVD
Breast cancer	21364760	CNVD
Multiple myeloma	17550852	CNVD
Myelofibrosis	22110671	CNVD
Alzheimer''s disease	18923514	CNVD
Alzheimer''s disease	20877625	CNVD
Follicular lymphoma	20505157	CNVD
Alzheimer''s disease	21956041	CNVD
Cancer	21183584	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Invasive pancreatic ductal carcinoma	16982739	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
Epilepsy	20502679	CNVD
22q11.2 microdeletion syndrome	19750312	CNVD
Breast cancer	20409316	CNVD
Breast cancer	22522925	CNVD
Acute myeloid leukemia	19651600	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:206 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:18370200-18375600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr21:18371400-18375400	Weak transcription	Ovary	ovary
3	chr21:18372400-18375200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr21:18372600-18374000	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr21:18372600-18374600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr21:18372800-18374200	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr21:18372800-18374200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr21:18373000-18377000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr21:18373200-18373400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr21:18373200-18374200	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr21:18373200-18376600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr21:18373400-18374200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr21:18374000-18375000	Enhancers	Dnd41	blood
14	chr21:18374000-18376600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr21:18374000-18376800	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr21:18374200-18374400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
17	chr21:18374200-18374800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr21:18374200-18376000	Enhancers	HSMMtube	muscle
19	chr21:18374200-18376200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr21:18374200-18376200	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr21:18374200-18376200	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr21:18374200-18376400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr21:18374400-18374800	Active TSS	Cortex derived primary cultured neurospheres	brain
24	chr21:18374600-18375800	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr21:18374800-18375000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
26	chr21:18374800-18375200	Enhancers	NH-A	brain
27	chr21:18374800-18375400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr21:18374800-18375400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr21:18374800-18375400	Enhancers	Osteobl	bone
30	chr21:18374800-18376000	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr21:18374800-18376000	Enhancers	Muscle Satellite Cultured Cells	--
32	chr21:18374800-18376000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr21:18374800-18376200	Enhancers	HSMM	muscle
34	chr21:18375000-18375200	Active TSS	Cortex derived primary cultured neurospheres	brain
35	chr21:18375000-18376000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr21:18375000-18376000	Enhancers	NHDF-Ad	bronchial
37	chr21:18375000-18376200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr21:18375000-18376400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr21:18375000-18376400	Enhancers	Fetal Lung	lung
40	chr21:18375000-18376800	Flanking Active TSS	Dnd41	blood
41	chr21:18375200-18375400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
42	chr21:18375200-18375400	Enhancers	Rectal Smooth Muscle	rectum
43	chr21:18375200-18375600	Enhancers	Fetal Thymus	thymus
44	chr21:18375200-18375600	Enhancers	A549	lung
45	chr21:18375200-18375800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr21:18375200-18375800	Enhancers	Placenta Amnion	Placenta Amnion
47	chr21:18375200-18376000	Enhancers	HUES6 Cell Line	embryonic stem cell
48	chr21:18375200-18376000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr21:18375200-18376200	Enhancers	iPS-18 Cell Line	embryonic stem cell
50	chr21:18375200-18376200	Enhancers	NHEK	skin

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