Variant report

Variant	nsv525735
Chromosome Location	chr8:103805097-103806914
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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:103761444..103763819-chr8:103803611..103805535,2	MCF-7	breast:
2	chr8:103797903..103806624-chr8:103818327..103823736,14	K562	blood:
3	chr8:103656072..103671156-chr8:103783158..103810200,133	MCF-7	breast:
4	chr8:103806310..103807220-chr8:103818840..103819602,2	HCT-116	colon:
5	chr8:103664425..103672321-chr8:103786823..103809844,55	MCF-7	breast:
6	chr8:103731630..103733859-chr8:103803496..103805362,2	MCF-7	breast:
7	chr16:7601160..7603904-chr8:103805589..103808353,2	MCF-7	breast:
8	chr8:103806083..103808991-chr8:103810445..103812933,2	K562	blood:
9	chr8:103640822..103642604-chr8:103804689..103806588,2	MCF-7	breast:
10	chr8:103806001..103807506-chr8:103807871..103809465,2	MCF-7	breast:
11	chr8:103779903..103782646-chr8:103802643..103805318,2	MCF-7	breast:
12	chr8:103613738..103615729-chr8:103803530..103805618,2	MCF-7	breast:
13	chr8:103803555..103806624-chr8:103818327..103821354,4	K562	blood:
14	chr8:103769034..103771608-chr8:103804532..103806280,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000253669	chromatin interactions
ENSG00000155090	chromatin interactions

Extended variants
information (count: 78 )
Associated
traits (count: 111 )

Variant overlapped rSNPs/rCNVs (count:78 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2513905	chr8:103805097-103805098	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs189298572	chr8:103805104-103805105	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs181808656	chr8:103805118-103805119	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs577908144	chr8:103805123-103805124	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs545047063	chr8:103805133-103805134	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs557301228	chr8:103805135-103805136	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs575682524	chr8:103805148-103805149	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs2436870	chr8:103805165-103805166	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs202209956	chr8:103805183-103805184	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs369774338	chr8:103805189-103805190	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs561196064	chr8:103805203-103805204	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs561119401	chr8:103805223-103805224	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs529086741	chr8:103805257-103805258	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs71574073	chr8:103805290-103805291	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs7816857	chr8:103805324-103805325	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs2513906	chr8:103805359-103805360	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs149261441	chr8:103805360-103805361	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs551432839	chr8:103805369-103805370	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs144499501	chr8:103805406-103805407	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs376819418	chr8:103805458-103805459	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs112573740	chr8:103805502-103805503	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs3936370	chr8:103805535-103805536	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs116566633	chr8:103805551-103805552	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs567211336	chr8:103805583-103805584	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs534929433	chr8:103805615-103805616	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs553147863	chr8:103805671-103805672	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs369247727	chr8:103805749-103805750	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs2436869	chr8:103805792-103805793	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs538931527	chr8:103805826-103805827	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs148547286	chr8:103805840-103805841	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs575615807	chr8:103805857-103805858	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs542607881	chr8:103805889-103805890	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs569935831	chr8:103805912-103805913	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs555052405	chr8:103805930-103805931	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs369999099	chr8:103805934-103805935	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs373815564	chr8:103806001-103806002	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs541271978	chr8:103806032-103806033	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs78147680	chr8:103806057-103806058	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs374793384	chr8:103806092-103806093	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs369667854	chr8:103806114-103806115	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs57920381	chr8:103806116-103806117	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs369277876	chr8:103806118-103806119	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs60998450	chr8:103806119-103806120	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs199781470	chr8:103806120-103806121	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs545312439	chr8:103806122-103806123	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs561161003	chr8:103806134-103806135	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs113446614	chr8:103806136-103806137	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs563391332	chr8:103806147-103806148	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs60081976	chr8:103806154-103806155	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs56169125	chr8:103806156-103806157	Weak transcription Enhancers	Chromatin interactive region	2 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
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17170743	CNVD
Colorectal cancer	16774939	CNVD
Autosomal-dominant progressive external ophthalmoplegia	19664747	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	17260012	CNVD
Sezary syndrome	18413736	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Urothelial cell carcinoma	18451213	CNVD
Colorectal cancer	21645411	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Ovarian cancer	20844748	CNVD
Colorectal cancer	16912164	CNVD
Breast cancer	20409316	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Breast cancer	21611746	CNVD
Oral squamous cell carcinoma	21853135	CNVD
Bladder cancer	21909424	CNVD

Chromatin state (count:180 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103798800-103808600	Enhancers	Fetal Muscle Leg	muscle
2	chr8:103799400-103811200	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr8:103799600-103811000	Enhancers	Primary hematopoietic stem cells	blood
4	chr8:103800200-103807400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr8:103801600-103806200	Weak transcription	Brain Germinal Matrix	brain
6	chr8:103801600-103806800	Enhancers	Skeletal Muscle Female	skeletal muscle
7	chr8:103801800-103806400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr8:103802000-103806600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr8:103802000-103806800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr8:103802000-103809200	Weak transcription	Liver	Liver
11	chr8:103802200-103806400	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr8:103802200-103806400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr8:103802200-103806400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr8:103802200-103806600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr8:103802200-103806800	Weak transcription	Primary T helper cells fromperipheralblood	blood
16	chr8:103802200-103807000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr8:103802200-103807400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr8:103802400-103807000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr8:103802800-103806800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr8:103803000-103808000	Enhancers	Spleen	Spleen
21	chr8:103803200-103806600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr8:103803600-103806600	Weak transcription	GM12878-XiMat	blood
23	chr8:103803600-103807200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr8:103803600-103807200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr8:103803600-103807400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr8:103803800-103806200	Weak transcription	Primary B cells from cord blood	blood
27	chr8:103803800-103806200	Weak transcription	Esophagus	oesophagus
28	chr8:103803800-103806200	Weak transcription	Left Ventricle	heart
29	chr8:103803800-103806200	Weak transcription	Lung	lung
30	chr8:103803800-103806400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr8:103803800-103806400	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr8:103803800-103806400	Weak transcription	Pancreas	Pancrea
33	chr8:103803800-103806400	Enhancers	Monocytes-CD14+_RO01746	blood
34	chr8:103803800-103806600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr8:103803800-103806600	Enhancers	Primary hematopoietic stem cells short term culture	blood
36	chr8:103803800-103806600	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr8:103803800-103806600	Weak transcription	Duodenum Mucosa	Duodenum
38	chr8:103803800-103806800	Weak transcription	Primary B cells from peripheral blood	blood
39	chr8:103803800-103807000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr8:103803800-103807000	Weak transcription	Thymus	Thymus
41	chr8:103803800-103807000	Weak transcription	Osteobl	bone
42	chr8:103803800-103807200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr8:103803800-103807400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
44	chr8:103803800-103807400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr8:103803800-103807400	Weak transcription	Brain Cingulate Gyrus	brain
46	chr8:103803800-103807400	Weak transcription	K562	blood
47	chr8:103803800-103807600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
48	chr8:103803800-103809800	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr8:103803800-103809800	Weak transcription	Stomach Mucosa	stomach
50	chr8:103803800-103816400	Weak transcription	Small Intestine	intestine

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