Variant report

Variant	nsv1056677
Chromosome Location	chr21:41286014-41345304
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:41275959..41278381-chr21:41285054..41287165,2	K562	blood:
2	chr21:41318272..41319886-chr21:41334706..41336966,2	MCF-7	breast:
3	chr21:41301717..41304496-chr21:41311264..41313673,2	MCF-7	breast:
4	chr21:41289108..41292559-chr21:41293025..41294776,3	MCF-7	breast:
5	chr21:41159912..41160982-chr21:41296603..41297482,6	MCF-7	breast:
6	chr21:41159981..41160860-chr21:41296870..41297616,2	MCF-7	breast:
7	chr21:41318272..41319886-chr21:41334706..41336966,2	MCF-7	breast:
8	chr21:41289108..41292559-chr21:41293025..41294776,3	MCF-7	breast:
9	chr21:41301717..41304496-chr21:41311264..41313673,2	MCF-7	breast:

No data

Extended variants
information (count: 2560 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:2560 , 50 per page) page: 1 2 3 4 5 6 7 ... 52

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2837291	chr21:41286014-41286015	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs540711518	chr21:41286016-41286017	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs9975767	chr21:41286146-41286147	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs4818100	chr21:41286165-41286166	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs143014681	chr21:41286169-41286170	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs542929905	chr21:41286180-41286181	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs562814739	chr21:41286197-41286198	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs114851835	chr21:41286231-41286232	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs13047643	chr21:41286232-41286233	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs78345394	chr21:41286246-41286247	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs527444722	chr21:41286313-41286314	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs180771579	chr21:41286352-41286353	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs149930062	chr21:41286363-41286364	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs372792126	chr21:41286364-41286365	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs145028523	chr21:41286381-41286382	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs56150613	chr21:41286388-41286389	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs186449726	chr21:41286454-41286455	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs377386086	chr21:41286464-41286465	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs370548849	chr21:41286498-41286499	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs67793081	chr21:41286511-41286512	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs55775259	chr21:41286512-41286513	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs117370865	chr21:41286513-41286514	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs538293183	chr21:41286516-41286517	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs557905306	chr21:41286545-41286546	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs117688460	chr21:41286575-41286576	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs9976166	chr21:41286599-41286600	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs374069819	chr21:41286602-41286603	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs148633583	chr21:41286606-41286607	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs542768406	chr21:41286708-41286709	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs370051638	chr21:41286772-41286773	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs556452206	chr21:41286790-41286791	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs142100197	chr21:41286825-41286826	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs545683399	chr21:41286839-41286840	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs113387096	chr21:41286848-41286849	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs527261598	chr21:41286850-41286851	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs554862468	chr21:41286894-41286895	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs574980288	chr21:41286932-41286933	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs575899308	chr21:41286943-41286944	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs370896288	chr21:41286956-41286957	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs190875352	chr21:41286975-41286976	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs529916867	chr21:41286985-41286986	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs183341638	chr21:41287044-41287045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs7276341	chr21:41287057-41287058	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs532348228	chr21:41287064-41287065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs201152917	chr21:41287155-41287156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs397867342	chr21:41287167-41287168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs552432049	chr21:41287169-41287170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs8131626	chr21:41287202-41287203	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs367597792	chr21:41287283-41287284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs370525309	chr21:41287289-41287290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

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
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:180 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:41280800-41291800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr21:41280800-41291800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr21:41285600-41286200	Enhancers	Right Atrium	heart
4	chr21:41285800-41287000	Enhancers	Fetal Muscle Leg	muscle
5	chr21:41286000-41290000	Weak transcription	Brain Cingulate Gyrus	brain
6	chr21:41286200-41294400	Weak transcription	Right Atrium	heart
7	chr21:41289200-41290200	Enhancers	Brain Substantia Nigra	brain
8	chr21:41289200-41292000	Enhancers	Brain Anterior Caudate	brain
9	chr21:41289400-41289800	Enhancers	Brain Hippocampus Middle	brain
10	chr21:41289400-41291000	Enhancers	Brain Angular Gyrus	brain
11	chr21:41289400-41292400	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr21:41289800-41290800	Flanking Active TSS	Brain Hippocampus Middle	brain
13	chr21:41289800-41290800	Enhancers	Brain Inferior Temporal Lobe	brain
14	chr21:41290000-41290600	Enhancers	Brain Cingulate Gyrus	brain
15	chr21:41290200-41290800	Weak transcription	Brain Substantia Nigra	brain
16	chr21:41290200-41292000	Enhancers	Brain Germinal Matrix	brain
17	chr21:41290400-41290800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr21:41290400-41291200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr21:41290600-41290800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr21:41290600-41290800	Flanking Active TSS	Brain Cingulate Gyrus	brain
21	chr21:41290600-41290800	Enhancers	Pancreas	Pancrea
22	chr21:41290600-41291000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr21:41290800-41291000	Enhancers	Brain Substantia Nigra	brain
24	chr21:41290800-41291200	Enhancers	Brain Cingulate Gyrus	brain
25	chr21:41290800-41291200	Enhancers	Brain Hippocampus Middle	brain
26	chr21:41290800-41291800	Weak transcription	Pancreas	Pancrea
27	chr21:41291000-41292200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr21:41291600-41291800	Bivalent/Poised TSS	Fetal Brain Male	brain
29	chr21:41291600-41292400	ZNF genes & repeats	Fetal Kidney	kidney
30	chr21:41291800-41292000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr21:41291800-41292200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr21:41291800-41292200	Active TSS	Gastric	stomach
33	chr21:41291800-41292200	Enhancers	Right Ventricle	heart
34	chr21:41291800-41292200	Enhancers	K562	blood
35	chr21:41291800-41292400	Active TSS	Fetal Brain Male	brain
36	chr21:41291800-41292400	ZNF genes & repeats	Pancreas	Pancrea
37	chr21:41292000-41292200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr21:41292000-41292200	Flanking Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr21:41292000-41303600	Weak transcription	Brain Anterior Caudate	brain
40	chr21:41292200-41292400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr21:41292200-41299400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr21:41292400-41292600	Enhancers	Fetal Kidney	kidney
43	chr21:41292400-41296000	Weak transcription	Pancreas	Pancrea
44	chr21:41292800-41293200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
45	chr21:41296000-41297200	Enhancers	Pancreas	Pancrea
46	chr21:41297000-41297600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
47	chr21:41297200-41299400	Weak transcription	Pancreas	Pancrea
48	chr21:41297600-41299400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr21:41299400-41299600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr21:41299400-41299600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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