Variant report

Variant	nsv465746
Chromosome Location	chr8:99088251-99117532
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:45)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:1)

No data

(count:45 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:99057798..99060309-chr8:99094046..99095813,2	MCF-7	breast:
2	chr8:99091170..99093628-chr8:99095565..99098052,2	K562	blood:
3	chr8:99055741..99058101-chr8:99104592..99107014,2	MCF-7	breast:
4	chr8:99056304..99058591-chr8:99087479..99089177,4	MCF-7	breast:
5	chr8:98879754..98881586-chr8:99098019..99100766,2	MCF-7	breast:
6	chr8:99056857..99059460-chr8:99091199..99095335,6	MCF-7	breast:
7	chr8:99114206..99122182-chr8:99125725..99131082,14	MCF-7	breast:
8	chr8:99056343..99060248-chr8:99110928..99114152,4	MCF-7	breast:
9	chr8:99049576..99052320-chr8:99112888..99115276,2	K562	blood:
10	chr8:99056917..99058584-chr8:99095819..99097940,2	K562	blood:
11	chr8:99111083..99113381-chr8:99127604..99129611,2	MCF-7	breast:
12	chr8:99105894..99107758-chr8:99108714..99111067,2	MCF-7	breast:
13	chr8:99104500..99106105-chr8:99123218..99126099,2	MCF-7	breast:
14	chr8:99110553..99112743-chr8:99124112..99126443,2	MCF-7	breast:
15	chr8:99048693..99052223-chr8:99096382..99099450,4	MCF-7	breast:
16	chr8:99101375..99102935-chr8:99104912..99106463,2	K562	blood:
17	chr8:99104954..99107804-chr8:99110176..99112228,2	K562	blood:
18	chr8:99085933..99088914-chr8:99090507..99092647,3	MCF-7	breast:
19	chr8:99105894..99107758-chr8:99108714..99111067,2	MCF-7	breast:
20	chr8:99099348..99102205-chr8:99104741..99107203,2	MCF-7	breast:
21	chr8:99055453..99057832-chr8:99099813..99102793,3	MCF-7	breast:
22	chr8:99085933..99088914-chr8:99090507..99092647,3	MCF-7	breast:
23	chr8:99098084..99100230-chr8:99100397..99102063,2	K562	blood:
24	chr8:99114180..99116016-chr8:99124047..99126036,2	MCF-7	breast:
25	chr8:99100601..99102222-chr8:99121756..99123505,2	MCF-7	breast:
26	chr8:99058630..99060915-chr8:99087639..99090320,3	MCF-7	breast:
27	chr8:99114868..99117757-chr8:99127759..99130747,2	MCF-7	breast:
28	chr8:99099348..99102205-chr8:99104741..99107203,2	MCF-7	breast:
29	chr8:99091170..99093628-chr8:99095565..99098052,2	K562	blood:
30	chr8:99051546..99054747-chr8:99096963..99099980,5	MCF-7	breast:
31	chr8:99094554..99097746-chr8:99103141..99106033,3	MCF-7	breast:
32	chr8:99049137..99049962-chr8:99097475..99098130,3	MCF-7	breast:
33	chr8:99055291..99060147-chr8:99095579..99104259,19	MCF-7	breast:
34	chr8:99104954..99107804-chr8:99110176..99112228,2	K562	blood:
35	chr8:99056928..99058682-chr8:99096688..99098229,2	MCF-7	breast:
36	chr8:99098046..99101467-chr8:99126201..99130139,4	MCF-7	breast:
37	chr8:99101375..99102935-chr8:99104912..99106463,2	K562	blood:
38	chr8:99098084..99100230-chr8:99100397..99102063,2	K562	blood:
39	chr8:99049576..99051281-chr8:99112123..99114388,2	K562	blood:
40	chr8:99056345..99058707-chr8:99104848..99107524,2	MCF-7	breast:
41	chr8:99057383..99059757-chr8:99103855..99106490,2	K562	blood:
42	chr8:99056253..99058055-chr8:99098038..99100996,2	K562	blood:
43	chr8:99080196..99082258-chr8:99098003..99099525,2	MCF-7	breast:
44	chr8:99094554..99097746-chr8:99103141..99106033,3	MCF-7	breast:
45	chr8:99046565..99048917-chr8:99089595..99092065,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C8orf47-1	chr8:99111578-99112805	NONHSAT127909

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	HRSP12	hsa-miR-375	chr8:99114622-99114643

Variant related genes	Relation type
ENSG00000156482	chromatin interactions
ENSG00000132561	chromatin interactions
ENSG00000245970	chromatin interactions
ENSG00000132541	chromatin interactions
ENSG00000207067	chromatin interactions
ENSG00000104356	chromatin interactions

Extended variants
information (count: 1145 )
Associated
traits (count: 111 )

Variant overlapped rSNPs/rCNVs (count:1145 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2959644	chr8:99088251-99088252	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs574980985	chr8:99088264-99088265	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs34323229	chr8:99088305-99088306	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs56772749	chr8:99088306-99088307	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs75336335	chr8:99088316-99088317	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs373576366	chr8:99088324-99088325	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs368570945	chr8:99088331-99088332	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs575018390	chr8:99088342-99088343	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs543112644	chr8:99088358-99088359	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs2513828	chr8:99088463-99088464	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs576402551	chr8:99088470-99088471	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs184156585	chr8:99088502-99088503	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs559207498	chr8:99088541-99088542	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs141530415	chr8:99088556-99088557	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs145841517	chr8:99088567-99088568	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs561690487	chr8:99088571-99088572	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs530748366	chr8:99088572-99088573	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs13278732	chr8:99088581-99088582	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	disease
19	rs554534921	chr8:99088582-99088583	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs376212741	chr8:99088618-99088619	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs144177452	chr8:99088619-99088620	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs58330802	chr8:99088631-99088632	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs545923920	chr8:99088632-99088633	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs79600649	chr8:99088634-99088635	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs200044709	chr8:99088636-99088637	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs547043458	chr8:99088716-99088717	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs74437317	chr8:99088722-99088723	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs536800463	chr8:99088803-99088804	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs532532734	chr8:99088816-99088817	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs187554177	chr8:99088829-99088830	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs557193625	chr8:99088847-99088848	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs192750213	chr8:99088873-99088874	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs2513829	chr8:99088913-99088914	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs568528484	chr8:99088920-99088921	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs10087420	chr8:99088998-99088999	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs556617632	chr8:99089044-99089045	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs546294820	chr8:99089046-99089047	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs34007656	chr8:99089047-99089048	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs114181130	chr8:99089053-99089054	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs398112788	chr8:99089056-99089057	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs75306676	chr8:99089057-99089058	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs76163670	chr8:99089059-99089060	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs73280033	chr8:99089105-99089106	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs559803743	chr8:99089106-99089107	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs552503520	chr8:99089208-99089209	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs376292290	chr8:99089212-99089213	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs573118765	chr8:99089260-99089261	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs2513830	chr8:99089275-99089276	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs562036231	chr8:99089276-99089277	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs575320782	chr8:99089311-99089312	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:111)

Disease	PMID	Source
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
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Testicular cancer	18059402	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
abnormal development	18461090	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
Cancer	16751803	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
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Cancer	21949371	CNVD
Non-small cell lung cancer	21829676	CNVD
Multiple myeloma	16461302	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute myeloid leukemia	21358987	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	21399628	CNVD
small cell lung cancer	20016488	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	17393978	CNVD
Burkitt''s lymphoma	18698080	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Bladder cancer	19088036	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
head and neck squamous cell carcinoma	19451471	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17170743	CNVD
Colorectal cancer	16774939	CNVD
Autosomal-dominant progressive external ophthalmoplegia	19664747	CNVD
Colorectal cancer	21645411	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Breast cancer	21611746	CNVD
Malignant melanoma	17260012	CNVD
Intellectual disability	21811512	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Prostate cancer	22341455	CNVD
Colorectal cancer	19455253	CNVD

Chromatin state (count:219 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:99082400-99090200	Weak transcription	Stomach Mucosa	stomach
2	chr8:99082400-99090800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr8:99083400-99092200	Weak transcription	Pancreas	Pancrea
4	chr8:99087600-99088400	Enhancers	Liver	Liver
5	chr8:99090200-99090400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr8:99090200-99091200	Enhancers	Stomach Mucosa	stomach
7	chr8:99090400-99091000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr8:99090800-99091000	Enhancers	Pancreatic Islets	Pancreatic Islet
9	chr8:99091000-99091200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr8:99091000-99092200	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr8:99091200-99092200	Weak transcription	Stomach Mucosa	stomach
12	chr8:99091200-99098200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr8:99092200-99092600	Enhancers	Gastric	stomach
14	chr8:99092200-99092600	Enhancers	Pancreas	Pancrea
15	chr8:99092200-99092600	Enhancers	Monocytes-CD14+_RO01746	blood
16	chr8:99092200-99092800	Enhancers	Pancreatic Islets	Pancreatic Islet
17	chr8:99092200-99093000	Enhancers	Stomach Mucosa	stomach
18	chr8:99092200-99093200	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr8:99092600-99092800	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr8:99092600-99098000	Weak transcription	Pancreas	Pancrea
21	chr8:99092600-99124400	Weak transcription	Gastric	stomach
22	chr8:99093000-99097600	Weak transcription	Stomach Mucosa	stomach
23	chr8:99093400-99100800	Weak transcription	Right Atrium	heart
24	chr8:99097400-99097600	Enhancers	A549	lung
25	chr8:99097600-99098000	Active TSS	Rectal Mucosa Donor 31	rectum
26	chr8:99097600-99098000	Enhancers	Stomach Mucosa	stomach
27	chr8:99097600-99098000	Active TSS	HepG2	liver
28	chr8:99097600-99098200	Enhancers	Colonic Mucosa	Colon
29	chr8:99097600-99098200	Enhancers	Hela-S3	cervix
30	chr8:99097600-99098400	Flanking Active TSS	A549	lung
31	chr8:99097800-99098200	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
32	chr8:99097800-99098200	Enhancers	Brain Hippocampus Middle	brain
33	chr8:99098000-99098200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr8:99098000-99098200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr8:99098000-99098200	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
36	chr8:99098000-99098200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr8:99098000-99098200	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr8:99098000-99098200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr8:99098000-99098200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr8:99098000-99098200	Enhancers	Primary monocytes fromperipheralblood	blood
41	chr8:99098000-99098200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
42	chr8:99098000-99098200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
43	chr8:99098000-99098200	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
44	chr8:99098000-99098200	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr8:99098000-99098200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr8:99098000-99098200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr8:99098000-99098200	Flanking Bivalent TSS/Enh	Muscle Satellite Cultured Cells	--
48	chr8:99098000-99098200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr8:99098000-99098200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr8:99098000-99098200	Enhancers	Adipose Nuclei	Adipose

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