Variant report

Variant	esv3349978
Chromosome Location	chr21:17159610-17160175
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	chr21:17139183..17140756-chr21:17159660..17161320,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NRIP1-11	chr21:17159893-17160023	NONHSAT081214

Extended variants
information (count: 31 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:31 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs368125664	chr21:17159647-17159648	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs534229738	chr21:17159654-17159655	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs565795281	chr21:17159669-17159670	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs554499280	chr21:17159745-17159746	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs534379032	chr21:17159765-17159766	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs150541440	chr21:17159812-17159813	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs372815495	chr21:17159813-17159814	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs77491136	chr21:17159825-17159826	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs186715231	chr21:17159839-17159840	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs28553297	chr21:17159854-17159855	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs28484960	chr21:17159865-17159866	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs576701553	chr21:17159874-17159875	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs556314108	chr21:17159891-17159892	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs192494702	chr21:17159895-17159896	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
15	rs540546709	chr21:17159899-17159900	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
16	rs527785107	chr21:17159903-17159904	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
17	rs545052421	chr21:17159923-17159924	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
18	rs561375305	chr21:17159979-17159980	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
19	rs564735727	chr21:17159989-17159990	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
20	rs368709780	chr21:17159990-17159991	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
21	rs148220766	chr21:17160020-17160021	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
22	rs570383850	chr21:17160023-17160024	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
23	rs532819211	chr21:17160041-17160042	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs569831264	chr21:17160051-17160052	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs572514139	chr21:17160070-17160071	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs552811732	chr21:17160078-17160079	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs566230127	chr21:17160092-17160093	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs115472036	chr21:17160107-17160108	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs554355419	chr21:17160127-17160128	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs554008448	chr21:17160147-17160148	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs16989715	chr21:17160162-17160163	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
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
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
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Epilepsy	20502679	CNVD
22q11.2 microdeletion syndrome	19750312	CNVD
Breast cancer	20409316	CNVD

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:17145800-17166600	Weak transcription	Psoas Muscle	Psoas
2	chr21:17148000-17160200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr21:17151600-17160600	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr21:17151800-17191000	Weak transcription	NH-A	brain
5	chr21:17154800-17161000	Weak transcription	Stomach Mucosa	stomach
6	chr21:17155000-17160400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr21:17155000-17161200	Weak transcription	Gastric	stomach
8	chr21:17155000-17161200	Weak transcription	HMEC	breast
9	chr21:17155000-17165200	Weak transcription	Brain Hippocampus Middle	brain
10	chr21:17155000-17166600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr21:17155000-17166800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr21:17155000-17171000	Weak transcription	Dnd41	blood
13	chr21:17155000-17179800	Weak transcription	Spleen	Spleen
14	chr21:17155000-17187400	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr21:17155000-17188600	Weak transcription	HepG2	liver
16	chr21:17155200-17160400	Weak transcription	Aorta	Aorta
17	chr21:17155200-17160600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr21:17155200-17160600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr21:17155200-17160600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr21:17155200-17160800	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr21:17155200-17160800	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr21:17155200-17160800	Weak transcription	Hela-S3	cervix
23	chr21:17155200-17160800	Weak transcription	NHDF-Ad	bronchial
24	chr21:17155200-17161000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr21:17155200-17161000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr21:17155200-17161000	Weak transcription	NHLF	lung
27	chr21:17155200-17161200	Weak transcription	Adipose Nuclei	Adipose
28	chr21:17155200-17161200	Weak transcription	Osteobl	bone
29	chr21:17155200-17162400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr21:17155200-17163600	Weak transcription	Primary monocytes fromperipheralblood	blood
31	chr21:17155200-17166000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr21:17155200-17166600	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr21:17155200-17167600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr21:17155200-17168200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
35	chr21:17155200-17168600	Weak transcription	K562	blood
36	chr21:17155200-17169800	Weak transcription	Liver	Liver
37	chr21:17155200-17169800	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr21:17155200-17177000	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr21:17155200-17177000	Weak transcription	Brain Anterior Caudate	brain
40	chr21:17155200-17177000	Weak transcription	Brain Cingulate Gyrus	brain
41	chr21:17155200-17177000	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr21:17155200-17179200	Weak transcription	Fetal Intestine Large	intestine
43	chr21:17155200-17179200	Weak transcription	Left Ventricle	heart
44	chr21:17155200-17181200	Weak transcription	Duodenum Mucosa	Duodenum
45	chr21:17155200-17181400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr21:17155200-17181400	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr21:17155200-17182200	Weak transcription	Primary neutrophils fromperipheralblood	blood
48	chr21:17155200-17183200	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr21:17155200-17183200	Weak transcription	Placenta	Placenta
50	chr21:17155200-17184600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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