Variant report

Variant	nsv587487
Chromosome Location	chr21:41281464-41291423
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr21:41238781..41240041-chr21:41282920..41283866,8	MCF-7	breast:
2	chr21:41160054..41160775-chr21:41284759..41285609,3	MCF-7	breast:
3	chr21:41283132..41284035-chr21:41490655..41491568,2	MCF-7	breast:
4	chr21:41282521..41284886-chr21:41368503..41370324,2	MCF-7	breast:
5	chr21:41289108..41292559-chr21:41293025..41294776,3	MCF-7	breast:
6	chr21:41159565..41161270-chr21:41282682..41284025,38	MCF-7	breast:
7	chr21:41160053..41161081-chr21:41282734..41283845,12	MCF-7	breast:
8	chr21:41275959..41278381-chr21:41285054..41287165,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000183036	chromatin interactions

Extended variants
information (count: 439 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:439 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2299776	chr21:41281464-41281465	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs544488101	chr21:41281476-41281477	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs16998881	chr21:41281503-41281504	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs577983558	chr21:41281515-41281516	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs577723404	chr21:41281527-41281528	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs181418413	chr21:41281566-41281567	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs554245912	chr21:41281593-41281594	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs574012874	chr21:41281642-41281643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs28743147	chr21:41281672-41281673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs185546961	chr21:41281702-41281703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs56150395	chr21:41281724-41281725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs55703940	chr21:41281725-41281726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs142498371	chr21:41281737-41281738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs562790191	chr21:41281744-41281745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs191230013	chr21:41281751-41281752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs35646627	chr21:41281786-41281787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs2299777	chr21:41281798-41281799	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs375711155	chr21:41281824-41281825	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs540622660	chr21:41281828-41281829	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs368219253	chr21:41281831-41281832	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs2299778	chr21:41281842-41281843	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs376055623	chr21:41281865-41281866	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs549896312	chr21:41281866-41281867	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs569891311	chr21:41281870-41281871	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs549297757	chr21:41281873-41281874	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs532329413	chr21:41281878-41281879	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs180885543	chr21:41281948-41281949	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs2299779	chr21:41281958-41281959	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs528726163	chr21:41281959-41281960	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs150840561	chr21:41281967-41281968	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs116760242	chr21:41281968-41281969	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs139309966	chr21:41281987-41281988	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs2299780	chr21:41282041-41282042	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs369394927	chr21:41282072-41282073	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs371781581	chr21:41282077-41282078	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs374767549	chr21:41282097-41282098	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs186240042	chr21:41282103-41282104	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs572610239	chr21:41282116-41282117	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs2299781	chr21:41282118-41282119	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs118144284	chr21:41282136-41282137	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs73215388	chr21:41282166-41282167	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs9984802	chr21:41282202-41282203	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs563345933	chr21:41282214-41282215	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs116080321	chr21:41282285-41282286	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs568902121	chr21:41282307-41282308	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs565861299	chr21:41282321-41282322	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs3819591	chr21:41282365-41282366	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs548443097	chr21:41282388-41282389	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs112241216	chr21:41282402-41282403	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs190701704	chr21:41282410-41282411	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

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
Down syndrome	20877625	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Cancer	20164920	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Prostate cancer	21147910	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Prostate cancer	17245344	CNVD
Prostate cancer	20473283	CNVD
Chordoma	18071362	CNVD
Cancer	20164919	CNVD
Breast cancer	21509527	CNVD

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:41275200-41283200	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr21:41280200-41281600	Enhancers	Primary B cells from peripheral blood	blood
3	chr21:41280600-41283600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr21:41280800-41291800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr21:41280800-41291800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr21:41281400-41281800	Weak transcription	Brain Anterior Caudate	brain
7	chr21:41281800-41282600	Enhancers	Brain Anterior Caudate	brain
8	chr21:41283200-41284200	Enhancers	Pancreatic Islets	Pancreatic Islet
9	chr21:41283600-41284000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr21:41283800-41284200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr21:41283800-41284600	Enhancers	Fetal Muscle Leg	muscle
12	chr21:41284000-41285800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr21:41285200-41285600	Enhancers	Left Ventricle	heart
14	chr21:41285400-41286000	Enhancers	Fetal Heart	heart
15	chr21:41285600-41285800	Bivalent Enhancer	Brain Cingulate Gyrus	brain
16	chr21:41285600-41286200	Enhancers	Right Atrium	heart
17	chr21:41285800-41286000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr21:41285800-41286000	Enhancers	Brain Cingulate Gyrus	brain
19	chr21:41285800-41287000	Enhancers	Fetal Muscle Leg	muscle
20	chr21:41286000-41290000	Weak transcription	Brain Cingulate Gyrus	brain
21	chr21:41286200-41294400	Weak transcription	Right Atrium	heart
22	chr21:41289200-41290200	Enhancers	Brain Substantia Nigra	brain
23	chr21:41289200-41292000	Enhancers	Brain Anterior Caudate	brain
24	chr21:41289400-41289800	Enhancers	Brain Hippocampus Middle	brain
25	chr21:41289400-41291000	Enhancers	Brain Angular Gyrus	brain
26	chr21:41289400-41292400	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr21:41289800-41290800	Flanking Active TSS	Brain Hippocampus Middle	brain
28	chr21:41289800-41290800	Enhancers	Brain Inferior Temporal Lobe	brain
29	chr21:41290000-41290600	Enhancers	Brain Cingulate Gyrus	brain
30	chr21:41290200-41290800	Weak transcription	Brain Substantia Nigra	brain
31	chr21:41290200-41292000	Enhancers	Brain Germinal Matrix	brain
32	chr21:41290400-41290800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr21:41290400-41291200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr21:41290600-41290800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
35	chr21:41290600-41290800	Flanking Active TSS	Brain Cingulate Gyrus	brain
36	chr21:41290600-41290800	Enhancers	Pancreas	Pancrea
37	chr21:41290600-41291000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr21:41290800-41291000	Enhancers	Brain Substantia Nigra	brain
39	chr21:41290800-41291200	Enhancers	Brain Cingulate Gyrus	brain
40	chr21:41290800-41291200	Enhancers	Brain Hippocampus Middle	brain
41	chr21:41290800-41291800	Weak transcription	Pancreas	Pancrea
42	chr21:41291000-41292200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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