Variant report

Variant	nsv437848
Chromosome Location	chr21:28190398-28203668
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:28193660..28195884-chr21:28196743..28198905,2	K562	blood:
2	chr21:28193660..28195884-chr21:28196743..28198905,2	K562	blood:

Extended variants
information (count: 499 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:499 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs456954	chr21:28190398-28190399	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs190778902	chr21:28190415-28190416	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs2011510	chr21:28190432-28190433	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs532218995	chr21:28190485-28190486	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs369895971	chr21:28190537-28190538	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs141862386	chr21:28190572-28190573	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs181148609	chr21:28190584-28190585	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs461697	chr21:28190597-28190598	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs186645147	chr21:28190605-28190606	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs534111975	chr21:28190611-28190612	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs553318966	chr21:28190640-28190641	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs190591664	chr21:28190664-28190665	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs577678386	chr21:28190712-28190713	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs558735539	chr21:28190742-28190743	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs534418249	chr21:28190760-28190761	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs57052686	chr21:28190765-28190766	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs544392387	chr21:28190771-28190772	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs77475062	chr21:28190774-28190775	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs574768793	chr21:28190804-28190805	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs540558859	chr21:28190816-28190817	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs146051245	chr21:28190828-28190829	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs560435723	chr21:28190865-28190866	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs182877965	chr21:28190869-28190870	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs545783891	chr21:28190871-28190872	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs562402330	chr21:28190877-28190878	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs557257039	chr21:28190926-28190927	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs376228357	chr21:28190949-28190950	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs548385265	chr21:28191007-28191008	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs561900150	chr21:28191017-28191018	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs2588527	chr21:28191040-28191041	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs527501512	chr21:28191063-28191064	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs59042813	chr21:28191069-28191070	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs570728283	chr21:28191103-28191104	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs538615445	chr21:28191133-28191134	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs552583867	chr21:28191145-28191146	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs569008502	chr21:28191185-28191186	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs187727190	chr21:28191186-28191187	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs554725792	chr21:28191190-28191191	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs574658143	chr21:28191200-28191201	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs534425782	chr21:28191295-28191296	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs573926258	chr21:28191303-28191304	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs536398664	chr21:28191370-28191371	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs78317794	chr21:28191375-28191376	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs139706819	chr21:28191393-28191394	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs149372946	chr21:28191410-28191411	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs562533459	chr21:28191430-28191431	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs576191036	chr21:28191433-28191434	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs541915481	chr21:28191436-28191437	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs561790802	chr21:28191445-28191446	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs190876172	chr21:28191539-28191540	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

Disease	PMID	Source
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
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
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
Chronic lymphocytic leukemia	20421269	CNVD
Acute myeloid leukemia	21251322	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Ewing''s sarcoma	17952124	CNVD
Myelofibrosis	22110671	CNVD
Ovarian cancer	22174824	CNVD
Renal cell carcinoma	18765545	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Non-syndromic sensorineural hearing loss	19212409	CNVD
Hypoplastic left heart syndrome	22349727	CNVD

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:28182600-28192200	Weak transcription	NHEK	skin
2	chr21:28187000-28192400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr21:28187400-28192600	Weak transcription	Placenta	Placenta
4	chr21:28188200-28192200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr21:28188400-28191800	Weak transcription	Hela-S3	cervix
6	chr21:28188400-28198600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr21:28190200-28190400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr21:28190200-28190600	Enhancers	Fetal Kidney	kidney
9	chr21:28190200-28190800	Enhancers	Fetal Intestine Large	intestine
10	chr21:28190200-28191800	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr21:28190200-28191800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr21:28190400-28191400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr21:28190600-28191400	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr21:28190600-28192000	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr21:28190800-28192400	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr21:28190800-28192600	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr21:28191000-28191800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr21:28191200-28192600	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr21:28191400-28192400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr21:28191400-28193200	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr21:28191800-28192200	Enhancers	Hela-S3	cervix
22	chr21:28191800-28192600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
23	chr21:28192200-28192600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr21:28192200-28192600	Flanking Active TSS	Hela-S3	cervix
25	chr21:28192200-28193200	Enhancers	NHEK	skin
26	chr21:28192400-28192600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr21:28192400-28192600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr21:28192400-28193000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr21:28192400-28193000	Enhancers	H9 Cell Line	embryonic stem cell
30	chr21:28192400-28193200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr21:28192400-28193200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr21:28192600-28193200	Enhancers	Placenta	Placenta
33	chr21:28192600-28193400	Enhancers	Hela-S3	cervix
34	chr21:28192600-28199800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr21:28193200-28195200	Enhancers	Dnd41	blood
36	chr21:28195200-28198400	Weak transcription	Dnd41	blood
37	chr21:28198400-28198800	ZNF genes & repeats	Dnd41	blood
38	chr21:28198600-28198800	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr21:28198600-28198800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr21:28198600-28199000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
41	chr21:28198600-28199400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
42	chr21:28198800-28199000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr21:28198800-28199200	Enhancers	NHDF-Ad	bronchial
44	chr21:28198800-28199400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr21:28198800-28199800	Weak transcription	Dnd41	blood
46	chr21:28198800-28200600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr21:28199000-28199200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr21:28199000-28200600	Enhancers	HMEC	breast
49	chr21:28199000-28208400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr21:28199200-28199800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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