Variant report

Variant	nsv587336
Chromosome Location	chr21:27849346-27865978
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:27541635..27543778-chr21:27861524..27863454,2	MCF-7	breast:
2	chr21:27841789..27843802-chr21:27853372..27855381,2	K562	blood:
3	chr21:27861488..27864858-chr21:27865688..27868748,3	K562	blood:
4	chr21:27861488..27864858-chr21:27865688..27868748,3	K562	blood:

Variant related genes	Relation type
ENSG00000142192	chromatin interactions
ENSG00000273492	chromatin interactions

Extended variants
information (count: 570 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:570 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs219672	chr21:27849346-27849347	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs564192924	chr21:27849380-27849381	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs186896609	chr21:27849481-27849482	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs549746422	chr21:27849517-27849518	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs371931047	chr21:27849530-27849531	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs113128533	chr21:27849549-27849550	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs536164050	chr21:27849593-27849594	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs188558283	chr21:27849668-27849669	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs181323095	chr21:27849677-27849678	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs535181232	chr21:27849720-27849721	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs558007054	chr21:27849777-27849778	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs139079530	chr21:27849841-27849842	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs371653684	chr21:27849843-27849844	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs537099299	chr21:27849894-27849895	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs556929504	chr21:27849895-27849896	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs113450032	chr21:27849921-27849922	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs9975178	chr21:27849989-27849990	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs80315466	chr21:27849994-27849995	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs546169402	chr21:27850078-27850079	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs541726222	chr21:27850083-27850084	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs2830248	chr21:27850141-27850142	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs369338240	chr21:27850226-27850227	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs572181067	chr21:27850227-27850228	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs541197210	chr21:27850248-27850249	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs78818589	chr21:27850266-27850267	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs374044533	chr21:27850301-27850302	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs549859556	chr21:27850303-27850304	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs563274700	chr21:27850350-27850351	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs533215798	chr21:27850374-27850375	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs576122056	chr21:27850480-27850481	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs528863545	chr21:27850508-27850509	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs549711270	chr21:27850529-27850530	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs566350800	chr21:27850566-27850567	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs534937203	chr21:27850580-27850581	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs576508118	chr21:27850587-27850588	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs551950754	chr21:27850613-27850614	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs139313725	chr21:27850620-27850621	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs571692761	chr21:27850645-27850646	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs537563720	chr21:27850649-27850650	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs556990727	chr21:27850657-27850658	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs567345301	chr21:27850666-27850667	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs149917843	chr21:27850676-27850677	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs545328047	chr21:27850741-27850742	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs555270013	chr21:27850798-27850799	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs9977420	chr21:27850813-27850814	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs540907490	chr21:27850817-27850818	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs9977490	chr21:27850821-27850822	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs116643424	chr21:27850835-27850836	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs185139628	chr21:27850841-27850842	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs146484059	chr21:27850899-27850900	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

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

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:27838400-27850400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr21:27839200-27850800	Weak transcription	HUVEC	blood vessel
3	chr21:27839400-27856000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr21:27840000-27851400	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr21:27842400-27853000	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr21:27842400-27862000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr21:27843400-27878800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr21:27843600-27854800	Weak transcription	Adipose Nuclei	Adipose
9	chr21:27843800-27850000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr21:27843800-27853600	Weak transcription	Fetal Stomach	stomach
11	chr21:27843800-27860200	Weak transcription	Left Ventricle	heart
12	chr21:27845600-27852200	Strong transcription	Fetal Lung	lung
13	chr21:27845600-27853000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr21:27846600-27852800	Strong transcription	Primary hematopoietic stem cells	blood
15	chr21:27847000-27852800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr21:27847000-27855000	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr21:27847000-27862800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr21:27847600-27852400	Weak transcription	Primary neutrophils fromperipheralblood	blood
19	chr21:27847600-27852800	Strong transcription	HUES64 Cell Line	embryonic stem cell
20	chr21:27848000-27851000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
21	chr21:27848000-27852800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr21:27848000-27852800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr21:27848200-27849400	Strong transcription	Fetal Kidney	kidney
24	chr21:27849400-27863000	Weak transcription	Fetal Kidney	kidney
25	chr21:27850000-27852600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
26	chr21:27850400-27852600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr21:27851000-27851400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr21:27851000-27851600	Genic enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr21:27851200-27851400	Enhancers	H1 Cell Line	embryonic stem cell
30	chr21:27851200-27851400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr21:27851400-27851800	Genic enhancers	HUES48 Cell Line	embryonic stem cell
32	chr21:27851400-27854800	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr21:27851400-27863000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr21:27851400-27864000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr21:27851600-27852600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
36	chr21:27851800-27852600	Strong transcription	HUES48 Cell Line	embryonic stem cell
37	chr21:27852200-27863000	Weak transcription	Fetal Lung	lung
38	chr21:27852600-27854200	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr21:27852600-27862800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr21:27852600-27863000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr21:27852600-27867600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
42	chr21:27852800-27854800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr21:27852800-27856400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr21:27852800-27862000	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr21:27852800-27862200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr21:27852800-27871400	Weak transcription	Primary hematopoietic stem cells	blood
47	chr21:27853000-27863200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr21:27856000-27856400	Enhancers	Breast Myoepithelial Primary Cells	Breast
49	chr21:27856400-27856600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr21:27856600-27862800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links