Variant report

Variant	nsv881720
Chromosome Location	chr5:60215481-60237984
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:133)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:133 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr5:60227642-60227690	K562	blood:	n/a	n/a
2	ARID3A	chr5:60224933-60225228	K562	blood:	n/a	n/a
3	CBX3	chr5:60231541-60231761	K562	blood:	n/a	n/a
4	CEBPB	chr5:60236700-60237001	HepG2	liver:	n/a	n/a
5	CTCF	chr5:60224628-60225323	A549	lung:	n/a	n/a
6	CTCF	chr5:60224960-60225110	GM12871	blood:	n/a	n/a
7	CTCF	chr5:60224960-60225110	HFF	foreskin:	n/a	n/a
8	CTCF	chr5:60224980-60225130	HPAF	blood vessel:	n/a	n/a
9	CTCF	chr5:60224980-60225130	AG10803	skin:	n/a	n/a
10	CTCF	chr5:60225000-60225150	HPF	lung:	n/a	n/a
11	CTCF	chr5:60225000-60225150	NHDF-neo	bronchial:	n/a	n/a
12	CTCF	chr5:60224980-60225130	HRE	kidney:	n/a	n/a
13	CTCF	chr5:60225000-60225150	GM12871	blood:	n/a	n/a
14	CTCF	chr5:60225000-60225150	HMF	breast:	n/a	n/a
15	CTCF	chr5:60224960-60225110	HCFaa	heart:	n/a	n/a
16	CTCF	chr5:60225020-60225170	HCT-116	colon:	n/a	n/a
17	CTCF	chr5:60224968-60225209	A549	lung:	n/a	n/a
18	CTCF	chr5:60224994-60225118	Hela-S3	cervix:	n/a	n/a
19	CTCF	chr5:60224875-60225187	GM12878	blood:	n/a	n/a
20	CTCF	chr5:60224900-60225050	HEEpiC	esophagus:	n/a	n/a
21	CTCF	chr5:60225001-60225126	GM13977	blood:	n/a	n/a
22	CTCF	chr5:60225240-60225390	NHLF	lung:	n/a	n/a
23	CTCF	chr5:60224980-60225130	GM12872	blood:	n/a	n/a
24	CTCF	chr5:60224940-60225090	AG09319	gingival:	n/a	n/a
25	CTCF	chr5:60224980-60225130	GM12875	blood:	n/a	n/a
26	CTCF	chr5:60224960-60225110	HMEC	breast:	n/a	n/a
27	CTCF	chr5:60224940-60225090	GM12801	blood:	n/a	n/a
28	CTCF	chr5:60225100-60225250	MCF-7	breast:	n/a	n/a
29	CTCF	chr5:60224960-60225110	GM12873	blood:	n/a	n/a
30	CTCF	chr5:60224960-60225110	HPAF	blood vessel:	n/a	n/a
31	CTCF	chr5:60225280-60225430	HPF	lung:	n/a	n/a
32	CTCF	chr5:60225080-60225230	HFF-Myc	foreskin:	n/a	n/a
33	CTCF	chr5:60225000-60225150	RPTEC	kidney:	n/a	n/a
34	CTCF	chr5:60224929-60225155	HUVEC	blood vessel:	n/a	n/a
35	CTCF	chr5:60224980-60225130	AG04449	skin:	n/a	n/a
36	CTCF	chr5:60225000-60225150	MCF-7	breast:	n/a	n/a
37	CTCF	chr5:60224787-60225309	HCT-116	colon:	n/a	n/a
38	CTCF	chr5:60224640-60224790	NHEK	skin:	n/a	n/a
39	CTCF	chr5:60224960-60225110	Caco-2	colon:	n/a	n/a
40	CTCF	chr5:60224932-60225258	MCF-7	breast:	n/a	n/a
41	CTCF	chr5:60224940-60225090	AG10803	skin:	n/a	n/a
42	CTCF	chr5:60224960-60225110	HCPEpiC	choroid plexus:	n/a	n/a
43	CTCF	chr5:60224940-60225090	HUVEC	blood vessel:	n/a	n/a
44	CTCF	chr5:60224960-60225110	GM12870	blood:	n/a	n/a
45	CTCF	chr5:60224978-60225143	LNCaP	prostate:	n/a	n/a
46	CTCF	chr5:60225040-60225190	GM12864	blood:	n/a	n/a
47	CTCF	chr5:60224850-60225231	IMR90	lung:	n/a	n/a
48	CTCF	chr5:60224920-60225070	AoAF	blood vessel:	n/a	n/a
49	CTCF	chr5:60225040-60225190	GM12866	blood:	n/a	n/a
50	CTCF	chr5:60224960-60225110	HCM	heart:	n/a	n/a

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:60232184..60235811-chr5:60236501..60239833,3	K562	blood:
2	chr5:59973247..59973801-chr5:60224508..60225118,3	K562	blood:
3	chr5:60234642..60236205-chr5:60241471..60243288,2	MCF-7	breast:
4	chr5:59995721..59997582-chr5:60231998..60233519,2	K562	blood:
5	chr5:60234928..60236588-chr5:60398367..60400919,2	K562	blood:
6	chr5:60232184..60235811-chr5:60236501..60239833,3	K562	blood:
7	chr5:59973332..59975337-chr5:60224481..60226392,2	MCF-7	breast:
8	chr5:60234534..60237256-chr5:60239004..60241956,3	K562	blood:
9	chr5:60221265..60223618-chr5:60225710..60228290,2	MCF-7	breast:
10	chr5:60231929..60237280-chr5:60239098..60242865,6	MCF-7	breast:
11	chr5:60221265..60223618-chr5:60225710..60228290,2	MCF-7	breast:

No data

Variant related genes	Relation type
NDUFAF2	TF binding region
ERCC8	TF binding region
ENSG00000049167	chromatin interactions
ENSG00000035499	chromatin interactions
ENSG00000164182	chromatin interactions

Extended variants
information (count: 799 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:799 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs976630	chr5:60215481-60215482	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs4647083	chr5:60215495-60215496	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs143459063	chr5:60215546-60215547	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs575524917	chr5:60215610-60215611	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs4647082	chr5:60215624-60215625	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs547052107	chr5:60215654-60215655	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs138486280	chr5:60215660-60215661	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs185983653	chr5:60215707-60215708	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs569581839	chr5:60215720-60215721	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs370342799	chr5:60215721-60215722	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs531860226	chr5:60215743-60215744	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs552070969	chr5:60215747-60215748	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs79222208	chr5:60215804-60215805	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs534803913	chr5:60215846-60215847	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs571705379	chr5:60215869-60215870	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs190449216	chr5:60215905-60215906	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs374406177	chr5:60215906-60215907	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs78588277	chr5:60215916-60215917	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs574893821	chr5:60215939-60215940	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs537406725	chr5:60215978-60215979	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs183077367	chr5:60215981-60215982	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs577589207	chr5:60216007-60216008	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs546414288	chr5:60216016-60216017	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs976631	chr5:60216043-60216044	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs186408782	chr5:60216090-60216091	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs540774472	chr5:60216195-60216196	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs141118419	chr5:60216229-60216230	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs190794971	chr5:60216238-60216239	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs573388134	chr5:60216332-60216333	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs549338639	chr5:60216397-60216398	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs540287160	chr5:60216418-60216419	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs563271859	chr5:60216442-60216443	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs532295007	chr5:60216492-60216493	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs4647081	chr5:60216584-60216585	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs146752966	chr5:60216599-60216600	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs4235484	chr5:60216633-60216634	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs371862984	chr5:60216654-60216655	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs35742543	chr5:60216656-60216657	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs548713499	chr5:60216657-60216658	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs550603054	chr5:60216685-60216686	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs568536220	chr5:60216740-60216741	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs537468028	chr5:60216794-60216795	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs557373853	chr5:60216819-60216820	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs577654450	chr5:60216820-60216821	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs4647080	chr5:60216824-60216825	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs4647079	chr5:60216828-60216829	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs76090939	chr5:60216912-60216913	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs114691972	chr5:60216977-60216978	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs4647078	chr5:60217038-60217039	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs574173056	chr5:60217060-60217061	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	17550852	CNVD
Thoracic aortic aneurysm	21092924	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Cancer	16751803	CNVD
Autism	22495311	CNVD
Intellectual disability	22102821	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Prostate cancer	21965145	CNVD
Esophageal cancer	20955586	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
adenomatous polyposis	22470819	CNVD
Acute myeloid leukemia	20729466	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Hepatocellular carcinoma	16750200	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	21251322	CNVD
Oral cancer	21386901	CNVD
Bladder cancer	21909424	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	17133270	CNVD
Breast cancer	19602461	CNVD
Renal cell carcinoma	18194544	CNVD
abnormal development	18461090	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21364760	CNVD
Colorectal cancer	16774939	CNVD
Myelofibrosis	22110671	CNVD
Neuroticism	17667963	CNVD
Contiguous gene syndrome	19525295	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:469 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:60167800-60228200	Weak transcription	Psoas Muscle	Psoas
2	chr5:60175800-60239400	Weak transcription	NHEK	skin
3	chr5:60176400-60220400	Weak transcription	Esophagus	oesophagus
4	chr5:60177200-60239600	Weak transcription	HSMMtube	muscle
5	chr5:60177400-60232800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr5:60181000-60218800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr5:60181600-60230800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr5:60183400-60228000	Weak transcription	Small Intestine	intestine
9	chr5:60185600-60221200	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr5:60187600-60223800	Weak transcription	HUVEC	blood vessel
11	chr5:60187600-60239600	Weak transcription	Rectal Smooth Muscle	rectum
12	chr5:60187800-60239600	Weak transcription	Brain Angular Gyrus	brain
13	chr5:60188000-60216200	Weak transcription	Hela-S3	cervix
14	chr5:60188000-60223400	Weak transcription	Primary B cells from peripheral blood	blood
15	chr5:60188600-60215600	Weak transcription	Fetal Heart	heart
16	chr5:60189400-60240000	Weak transcription	Spleen	Spleen
17	chr5:60189600-60217200	Weak transcription	A549	lung
18	chr5:60189600-60224000	Weak transcription	Osteobl	bone
19	chr5:60189600-60239600	Weak transcription	Right Ventricle	heart
20	chr5:60189600-60240000	Weak transcription	Pancreas	Pancrea
21	chr5:60189800-60223600	Weak transcription	Stomach Smooth Muscle	stomach
22	chr5:60189800-60225000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr5:60189800-60225800	Weak transcription	Fetal Brain Female	brain
24	chr5:60190200-60224000	Weak transcription	Brain Germinal Matrix	brain
25	chr5:60191000-60227200	Weak transcription	Fetal Intestine Small	intestine
26	chr5:60191000-60232800	Weak transcription	Fetal Stomach	stomach
27	chr5:60193200-60227400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr5:60193200-60232800	Weak transcription	Lung	lung
29	chr5:60193200-60239800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr5:60194600-60222800	Weak transcription	HMEC	breast
31	chr5:60199600-60224400	Weak transcription	Brain Hippocampus Middle	brain
32	chr5:60201600-60229800	Weak transcription	Brain Cingulate Gyrus	brain
33	chr5:60201800-60225600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
34	chr5:60202000-60223200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr5:60202000-60223400	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr5:60202800-60223200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr5:60207600-60225400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
38	chr5:60209800-60218400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr5:60210200-60218000	Strong transcription	Primary monocytes fromperipheralblood	blood
40	chr5:60210200-60220600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr5:60210400-60216000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
42	chr5:60210400-60216000	Strong transcription	Monocytes-CD14+_RO01746	blood
43	chr5:60210800-60223800	Weak transcription	Stomach Mucosa	stomach
44	chr5:60211000-60217400	Strong transcription	Dnd41	blood
45	chr5:60211600-60223200	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr5:60211800-60233400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr5:60212000-60223000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr5:60212200-60223000	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chr5:60212400-60216800	Weak transcription	Primary T helper cells fromperipheralblood	blood
50	chr5:60212400-60223200	Weak transcription	Cortex derived primary cultured neurospheres	brain

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