Variant report

Variant	nsv890899
Chromosome Location	chr8:52924095-52964522
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:320)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:320 , 50 per page) page: 1 2 3 4 5 6 7

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr8:52945580-52945908	HepG2	liver:	n/a	n/a
2	BACH1	chr8:52929647-52929871	H1-hESC	embryonic stem cell:	n/a	n/a
3	BACH1	chr8:52929652-52929850	K562	blood:	n/a	n/a
4	BHLHE40	chr8:52929705-52929912	K562	blood:	n/a	n/a
5	BHLHE40	chr8:52945609-52945866	HepG2	liver:	n/a	n/a
6	CEBPB	chr8:52924591-52924846	K562	blood:	n/a	chr8:52924700-52924711
7	CEBPB	chr8:52945646-52946336	HepG2	liver:	n/a	n/a
8	CEBPB	chr8:52951509-52951824	HepG2	liver:	n/a	chr8:52951655-52951666
9	CEBPB	chr8:52924545-52924785	A549	lung:	n/a	chr8:52924700-52924711
10	CEBPB	chr8:52950117-52950347	HepG2	liver:	n/a	chr8:52950253-52950264 chr8:52950214-52950225
11	CEBPB	chr8:52950091-52950303	A549	lung:	n/a	chr8:52950253-52950264 chr8:52950214-52950225
12	CEBPB	chr8:52931994-52932198	HepG2	liver:	n/a	chr8:52932054-52932065
13	CEBPB	chr8:52951495-52951810	IMR90	lung:	n/a	chr8:52951655-52951666
14	CEBPB	chr8:52924521-52924874	IMR90	lung:	n/a	chr8:52924700-52924711
15	CEBPB	chr8:52924518-52924854	Hela-S3	cervix:	n/a	chr8:52924700-52924711
16	CEBPB	chr8:52924536-52924822	HepG2	liver:	n/a	chr8:52924700-52924711
17	CTCF	chr8:52927000-52927150	Caco-2	colon:	n/a	n/a
18	CTCF	chr8:52926960-52927110	HBMEC	blood vessel:	n/a	n/a
19	CTCF	chr8:52927000-52927150	HMEC	breast:	n/a	n/a
20	CTCF	chr8:52926980-52927130	HCFaa	heart:	n/a	n/a
21	CTCF	chr8:52926940-52927090	GM12871	blood:	n/a	n/a
22	CTCF	chr8:52926801-52927350	HCT-116	colon:	n/a	n/a
23	CTCF	chr8:52926924-52927131	Gliobla	brain:	n/a	n/a
24	CTCF	chr8:52926945-52927169	Kidney_OC	kidney:	n/a	n/a
25	CTCF	chr8:52927000-52927150	AG04449	skin:	n/a	n/a
26	CTCF	chr8:52926954-52927086	ProgFib	skin:	n/a	n/a
27	CTCF	chr8:52927000-52927150	GM12865	blood:	n/a	n/a
28	CTCF	chr8:52927020-52927170	HL-60	blood:	n/a	n/a
29	CTCF	chr8:52926980-52927130	GM12865	blood:	n/a	n/a
30	CTCF	chr8:52927000-52927150	HRE	kidney:	n/a	n/a
31	CTCF	chr8:52926960-52927110	HAc	cerebellar:	n/a	n/a
32	CTCF	chr8:52927266-52927340	GM10266	blood:	n/a	n/a
33	CTCF	chr8:52926960-52927110	GM12871	blood:	n/a	n/a
34	CTCF	chr8:52926980-52927130	HepG2	liver:	n/a	n/a
35	CTCF	chr8:52926980-52927130	Caco-2	colon:	n/a	n/a
36	CTCF	chr8:52926980-52927130	NHDF-neo	bronchial:	n/a	n/a
37	CTCF	chr8:52927000-52927150	HAc	cerebellar:	n/a	n/a
38	CTCF	chr8:52926648-52927608	SK-N-SH	brain:	n/a	n/a
39	CTCF	chr8:52926640-52926790	GM12878	blood:	n/a	n/a
40	CTCF	chr8:52926980-52927130	AG04449	skin:	n/a	n/a
41	CTCF	chr8:52926940-52927090	GM12874	blood:	n/a	n/a
42	CTCF	chr8:52926980-52927130	GM06990	blood:	n/a	n/a
43	CTCF	chr8:52926960-52927110	GM12870	blood:	n/a	n/a
44	CTCF	chr8:52926980-52927130	GM12873	blood:	n/a	n/a
45	CTCF	chr8:52926945-52927117	MCF-7	breast:	n/a	n/a
46	CTCF	chr8:52926926-52927161	LNCaP	prostate:	n/a	n/a
47	CTCF	chr8:52927335-52927349	GM10248	blood:	n/a	n/a
48	CTCF	chr8:52926960-52927110	GM12875	blood:	n/a	n/a
49	CTCF	chr8:52927000-52927150	GM12874	blood:	n/a	n/a
50	CTCF	chr8:52926980-52927130	AoAF	blood vessel:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:52951775..52954691-chr8:52967433..52969538,2	K562	blood:
2	chr8:52926516..52927505-chr8:53001291..53001798,2	MCF-7	breast:
3	chr8:52926716..52927524-chr8:53024603..53025746,4	MCF-7	breast:
4	chr8:52926518..52927285-chr8:53190948..53191812,2	MCF-7	breast:
5	chr8:52927009..52927513-chr8:53191268..53191829,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC090186.1-2	chr8:52934976-52935473	NONHSAT126546
2	lnc-AC090186.1-2	chr8:52934976-52935448	NONHSAT126547
3	lnc-AC090186.1-2	chr8:52934976-52935534	ENSG00000253844

No data

Variant related genes	Relation type
ENSG00000254136	TF binding region

Extended variants
information (count: 1046 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:1046 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs16917103	chr8:52924095-52924096	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs142043188	chr8:52924114-52924115	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs16917105	chr8:52924126-52924127	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs146346185	chr8:52924147-52924148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs33925924	chr8:52924254-52924255	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs6988634	chr8:52924260-52924261	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs373629819	chr8:52924277-52924278	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs181753838	chr8:52924309-52924310	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs577872347	chr8:52924330-52924331	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs73593041	chr8:52924405-52924406	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs528262480	chr8:52924407-52924408	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs546905703	chr8:52924468-52924469	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs73593042	chr8:52924485-52924486	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs16917108	chr8:52924519-52924520	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs73679107	chr8:52924602-52924603	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs535947024	chr8:52924607-52924608	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs372570720	chr8:52924621-52924622	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs542299910	chr8:52924629-52924630	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs75398516	chr8:52924632-52924633	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs34415107	chr8:52924643-52924644	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs184671268	chr8:52924695-52924696	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs541250174	chr8:52924763-52924764	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs115894810	chr8:52924796-52924797	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs563522120	chr8:52924860-52924861	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs189656023	chr8:52924996-52924997	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs545651003	chr8:52925041-52925042	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs563684426	chr8:52925048-52925049	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs74451670	chr8:52925151-52925152	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs180794333	chr8:52925152-52925153	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs561350325	chr8:52925201-52925202	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs528314570	chr8:52925210-52925211	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs268927	chr8:52925212-52925213	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs571384965	chr8:52925265-52925266	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs532314544	chr8:52925286-52925287	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs149991960	chr8:52925302-52925303	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs568561393	chr8:52925327-52925328	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs186712378	chr8:52925394-52925395	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs80023930	chr8:52925409-52925410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs551098266	chr8:52925446-52925447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs191048971	chr8:52925515-52925516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs533860179	chr8:52925556-52925557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs553309548	chr8:52925564-52925565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs181603373	chr8:52925581-52925582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs373708185	chr8:52925743-52925744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs545383378	chr8:52925748-52925749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs557677017	chr8:52925791-52925792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs575740694	chr8:52925812-52925813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs531131068	chr8:52925849-52925850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs551322660	chr8:52925891-52925892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs567841792	chr8:52925953-52925954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

Disease	PMID	Source
Cancer	16751803	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Ewing''s sarcoma	21437220	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Multiple myeloma	16461302	CNVD
Developmental delay	21373258	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Disorders of sex development	21048976	CNVD
Testicular cancer	18059402	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Cancer	20164919	CNVD
primary effusion lymphomas	17116491	CNVD
Esophageal cancer	20955586	CNVD
abnormal development	18461090	CNVD
Cancer	20164920	CNVD
Oral cancer	21386901	CNVD
Uveal melanoma	21693616	CNVD
Langer-Giedion syndrome	22283845	CNVD
Cancer	21637783	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	20632083	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	19627613	CNVD
Prostate cancer	21088497	CNVD
colon cancer	17210682	CNVD
Breast cancer	21264507	CNVD
Breast cancer	22028636	CNVD
Acute myeloid leukemia	16864856	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Gastric cancer	17167181	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	16461572	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
head and neck squamous cell carcinoma	18028549	CNVD
Breast cancer	17001317	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
Glioblastoma multiforme	22286061	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Sezary syndrome	18413736	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Uveal melanoma	20484589	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:52921200-52924400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr8:52921200-52924400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr8:52921200-52926600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr8:52921200-52932800	Weak transcription	Pancreas	Pancrea
5	chr8:52921600-52924400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr8:52921600-52924400	Weak transcription	Dnd41	blood
7	chr8:52922400-52924400	Weak transcription	Osteobl	bone
8	chr8:52923200-52924200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr8:52923200-52924200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr8:52923200-52924200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr8:52924200-52924600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr8:52924200-52924800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr8:52924200-52925400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr8:52924400-52924600	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr8:52924400-52924600	Enhancers	Osteobl	bone
16	chr8:52924400-52924800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr8:52924400-52924800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr8:52924400-52924800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr8:52924400-52924800	Enhancers	Dnd41	blood
20	chr8:52924600-52925000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr8:52924800-52926600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr8:52925000-52925400	Enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr8:52926400-52927000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr8:52926600-52927000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr8:52926600-52927000	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr8:52926600-52927000	Enhancers	Pancreatic Islets	Pancreatic Islet
27	chr8:52926800-52927000	Enhancers	H1 Cell Line	embryonic stem cell
28	chr8:52926800-52927000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr8:52927000-52932800	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr8:52927800-52928600	Enhancers	Fetal Thymus	thymus
31	chr8:52929600-52930000	Enhancers	A549	lung
32	chr8:52932800-52933000	Enhancers	H1 Cell Line	embryonic stem cell
33	chr8:52932800-52933200	Enhancers	Pancreas	Pancrea
34	chr8:52933000-52933400	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr8:52933200-52934600	Weak transcription	Pancreas	Pancrea
36	chr8:52933400-52933800	Enhancers	H1 Cell Line	embryonic stem cell
37	chr8:52934600-52934800	Enhancers	Pancreas	Pancrea
38	chr8:52934600-52935200	Enhancers	Left Ventricle	heart
39	chr8:52944600-52944800	Enhancers	Pancreatic Islets	Pancreatic Islet
40	chr8:52944600-52945400	Enhancers	Fetal Intestine Small	intestine
41	chr8:52944600-52947000	Enhancers	Fetal Intestine Large	intestine
42	chr8:52945200-52945400	Enhancers	HepG2	liver
43	chr8:52945200-52946000	Active TSS	Duodenum Mucosa	Duodenum
44	chr8:52945200-52946600	Enhancers	iPS-15b Cell Line	embryonic stem cell
45	chr8:52945200-52946800	Enhancers	Fetal Thymus	thymus
46	chr8:52945400-52945600	Flanking Active TSS	Fetal Intestine Small	intestine
47	chr8:52945400-52945600	Enhancers	Rectal Mucosa Donor 31	rectum
48	chr8:52945400-52945800	Enhancers	H1 Cell Line	embryonic stem cell
49	chr8:52945400-52945800	Enhancers	Rectal Mucosa Donor 29	rectum
50	chr8:52945400-52946000	Active TSS	Colonic Mucosa	Colon

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