Variant report

Variant	nsv962647
Chromosome Location	chr21:15739771-15741418
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	chr21:15738341..15740358-chr21:15745168..15748188,3	MCF-7	breast:
2	chr21:15733062..15735967-chr21:15740026..15741975,2	MCF-7	breast:
3	chr21:15739043..15741032-chr21:15755736..15757362,2	K562	blood:
4	chr21:15738236..15741206-chr21:15753262..15755404,2	K562	blood:
5	chr21:15738236..15741507-chr21:15753904..15757362,3	K562	blood:
6	chr21:15738717..15742131-chr21:15743462..15746963,4	K562	blood:
7	chr21:15740980..15743787-chr21:15748039..15750871,3	K562	blood:
8	chr21:15741032..15742950-chr21:15746679..15748662,2	MCF-7	breast:
9	chr21:15732454..15736809-chr21:15737344..15740819,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000155304	chromatin interactions

Extended variants
information (count: 67 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:67 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs192255237	chr21:15739778-15739779	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs547207195	chr21:15739804-15739805	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs567670636	chr21:15739809-15739810	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs567354641	chr21:15739813-15739814	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs184689652	chr21:15739817-15739818	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs145004643	chr21:15739864-15739865	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs569622268	chr21:15739877-15739878	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs77054415	chr21:15739885-15739886	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs559257697	chr21:15739908-15739909	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs565583581	chr21:15739916-15739917	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs367825986	chr21:15739973-15739974	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs17002643	chr21:15740029-15740030	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs149077232	chr21:15740078-15740079	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs535198653	chr21:15740090-15740091	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs7276997	chr21:15740099-15740100	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs2822633	chr21:15740108-15740109	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs75607134	chr21:15740131-15740132	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs189135724	chr21:15740153-15740154	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs2822634	chr21:15740163-15740164	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs2822635	chr21:15740166-15740167	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs556191084	chr21:15740185-15740186	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs564816848	chr21:15740193-15740194	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs9974277	chr21:15740229-15740230	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs118092132	chr21:15740244-15740245	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs368430041	chr21:15740254-15740255	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs560880765	chr21:15740260-15740261	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs529802471	chr21:15740263-15740264	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs556783930	chr21:15740267-15740268	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs375632168	chr21:15740281-15740282	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs538620483	chr21:15740405-15740406	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs576918890	chr21:15740423-15740424	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs552932044	chr21:15740431-15740432	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs576139133	chr21:15740453-15740454	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs545465831	chr21:15740456-15740457	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs79143526	chr21:15740477-15740478	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs75877447	chr21:15740478-15740479	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs534945055	chr21:15740492-15740493	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs555154235	chr21:15740558-15740559	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs9976969	chr21:15740583-15740584	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs537165593	chr21:15740603-15740604	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs557019620	chr21:15740611-15740612	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs576855506	chr21:15740649-15740650	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs558950889	chr21:15740651-15740652	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs545792773	chr21:15740662-15740663	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs148333061	chr21:15740679-15740680	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs193104273	chr21:15740719-15740720	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs56950993	chr21:15740723-15740724	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs17240438	chr21:15740781-15740782	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs9977174	chr21:15740816-15740817	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs55878048	chr21:15740867-15740868	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:60)

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
Sudden cardiac death	19188705	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
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	20409316	CNVD
Autism	18414403	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
lymphocytic leukemia	21291569	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute myeloid leukemia	21251322	CNVD
abnormal development	18461090	CNVD
Breast cancer	21785460	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

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:15731600-15744800	Weak transcription	Hela-S3	cervix
2	chr21:15734400-15745600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr21:15734600-15744800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr21:15734600-15744800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr21:15734600-15745400	Weak transcription	HUVEC	blood vessel
6	chr21:15734800-15745400	Weak transcription	Primary neutrophils fromperipheralblood	blood
7	chr21:15735200-15744600	Weak transcription	NHEK	skin
8	chr21:15735200-15744800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr21:15735200-15744800	Weak transcription	HMEC	breast
10	chr21:15735200-15745200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr21:15737400-15745400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr21:15738600-15746000	Weak transcription	Ovary	ovary
13	chr21:15739000-15744600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr21:15739200-15739800	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr21:15739200-15739800	Enhancers	Monocytes-CD14+_RO01746	blood
16	chr21:15739200-15745000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr21:15739200-15747800	Weak transcription	Esophagus	oesophagus
18	chr21:15739400-15739800	Enhancers	K562	blood
19	chr21:15739600-15745000	Weak transcription	Primary hematopoietic stem cells	blood
20	chr21:15739800-15742400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr21:15739800-15743800	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr21:15739800-15744600	Weak transcription	Primary monocytes fromperipheralblood	blood
23	chr21:15739800-15745600	Weak transcription	GM12878-XiMat	blood
24	chr21:15739800-15746000	Weak transcription	K562	blood
25	chr21:15740400-15744800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr21:15740400-15745200	Weak transcription	Brain Germinal Matrix	brain
27	chr21:15740400-15746000	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr21:15740600-15744800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr21:15740600-15745000	Weak transcription	Primary B cells from cord blood	blood
30	chr21:15740600-15745000	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr21:15740600-15745400	Weak transcription	Stomach Smooth Muscle	stomach
32	chr21:15740600-15746000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr21:15740600-15746000	Weak transcription	NHLF	lung
34	chr21:15740800-15746000	Weak transcription	Left Ventricle	heart
35	chr21:15741000-15744400	Weak transcription	Placenta	Placenta
36	chr21:15741000-15744600	Weak transcription	Primary T helper cells fromperipheralblood	blood
37	chr21:15741000-15745000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr21:15741000-15745000	Weak transcription	Fetal Brain Female	brain
39	chr21:15741000-15745200	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr21:15741000-15745400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
41	chr21:15741000-15746000	Weak transcription	Primary T cells fromperipheralblood	blood
42	chr21:15741000-15746000	Weak transcription	Fetal Muscle Leg	muscle
43	chr21:15741200-15744600	Weak transcription	Fetal Intestine Large	intestine
44	chr21:15741200-15744800	Weak transcription	Primary B cells from peripheral blood	blood
45	chr21:15741200-15745000	Weak transcription	Brain Cingulate Gyrus	brain
46	chr21:15741200-15745800	Weak transcription	Brain Hippocampus Middle	brain
47	chr21:15741200-15745800	Weak transcription	Fetal Muscle Trunk	muscle
48	chr21:15741200-15745800	Weak transcription	Thymus	Thymus
49	chr21:15741200-15746000	Weak transcription	Aorta	Aorta
50	chr21:15741200-15746000	Weak transcription	Right Ventricle	heart

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