Variant report

Variant	nsv971599
Chromosome Location	chr8:96249324-96255153
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:21)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:96240965..96243166-chr8:96252025..96254042,3	K562	blood:
2	chr8:96231573..96233965-chr8:96249378..96252236,2	K562	blood:
3	chr8:96145670..96147348-chr8:96249546..96251895,2	MCF-7	breast:
4	chr8:96248174..96249978-chr8:96253878..96256406,3	K562	blood:
5	chr8:96239351..96241151-chr8:96247805..96249381,2	MCF-7	breast:
6	chr8:96144746..96147631-chr8:96251257..96253249,2	K562	blood:
7	chr8:96229389..96231464-chr8:96247771..96249721,2	K562	blood:
8	chr8:96247598..96249978-chr8:96254089..96255776,2	K562	blood:
9	chr8:96248174..96249978-chr8:96253878..96256406,3	K562	blood:
10	chr8:96241648..96244611-chr8:96247721..96251221,3	K562	blood:
11	chr8:95907386..95908938-chr8:96249524..96251716,2	MCF-7	breast:
12	chr8:96243081..96246840-chr8:96248821..96252281,5	K562	blood:
13	chr8:96150317..96152962-chr8:96247980..96250492,2	K562	blood:
14	chr8:96249492..96251130-chr8:96256592..96259030,2	K562	blood:
15	chr8:96244866..96247715-chr8:96248127..96251735,3	K562	blood:
16	chr8:96247598..96249978-chr8:96254089..96255776,2	K562	blood:
17	chr8:96240789..96242805-chr8:96252372..96254385,3	K562	blood:
18	chr8:96218443..96220891-chr8:96249353..96251227,2	MCF-7	breast:
19	chr8:96079753..96081863-chr8:96250255..96253131,2	MCF-7	breast:
20	chr8:96221181..96226002-chr8:96248062..96252220,6	MCF-7	breast:
21	chr8:96249665..96253673-chr8:96259430..96262765,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000175895	chromatin interactions
ENSG00000175305	chromatin interactions
ENSG00000156170	chromatin interactions

Extended variants
information (count: 208 )
Associated
traits (count: 108 )

Variant overlapped rSNPs/rCNVs (count:208 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572114948	chr8:96249330-96249331	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs74574535	chr8:96249416-96249417	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs180730112	chr8:96249421-96249422	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs386727925	chr8:96249484-96249485	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs2514551	chr8:96249486-96249487	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs530288060	chr8:96249489-96249490	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs550124629	chr8:96249499-96249500	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs370442431	chr8:96249506-96249507	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs563941196	chr8:96249514-96249515	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs532673151	chr8:96249558-96249559	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs374078103	chr8:96249559-96249560	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs113253117	chr8:96249562-96249563	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs552491339	chr8:96249577-96249578	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs2514552	chr8:96249621-96249622	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs553007799	chr8:96249654-96249655	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs565844005	chr8:96249691-96249692	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs16893796	chr8:96249705-96249706	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs375268047	chr8:96249746-96249747	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs548247387	chr8:96249776-96249777	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs548393110	chr8:96249802-96249803	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs7839243	chr8:96249813-96249814	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs78658779	chr8:96249821-96249822	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs556059978	chr8:96249830-96249831	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs75972371	chr8:96249889-96249890	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs538550405	chr8:96249897-96249898	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs35511040	chr8:96249899-96249900	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs572024822	chr8:96249912-96249913	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs78256243	chr8:96249914-96249915	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs60892301	chr8:96249936-96249937	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs574435407	chr8:96249957-96249958	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs62522654	chr8:96250012-96250013	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs79046118	chr8:96250029-96250030	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs558555918	chr8:96250055-96250056	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs57763575	chr8:96250063-96250064	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs143525661	chr8:96250064-96250065	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs59931634	chr8:96250066-96250067	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs574609036	chr8:96250102-96250103	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs559640545	chr8:96250112-96250113	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs528434096	chr8:96250128-96250129	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs114386179	chr8:96250138-96250139	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs568468115	chr8:96250278-96250279	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs537143721	chr8:96250291-96250292	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs34652432	chr8:96250364-96250365	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs115526969	chr8:96250428-96250429	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs569713410	chr8:96250437-96250438	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs538842002	chr8:96250496-96250497	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs191792312	chr8:96250533-96250534	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs572389229	chr8:96250542-96250543	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs72664683	chr8:96250547-96250548	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs184032522	chr8:96250548-96250549	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:108)

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
Epilepsy	20502679	CNVD
Acute myeloid leukemia	19651601	CNVD
head and neck squamous cell carcinoma	19451471	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17170743	CNVD
Mental retardation	17847001	CNVD
Neuropsychiatric disorder	20069037	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
Breast cancer	17142309	CNVD

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:96219800-96251800	Enhancers	Primary B cells from peripheral blood	blood
2	chr8:96238800-96250200	Weak transcription	Stomach Smooth Muscle	stomach
3	chr8:96242200-96280600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr8:96243800-96280400	Weak transcription	Primary hematopoietic stem cells	blood
5	chr8:96244000-96250000	Weak transcription	Spleen	Spleen
6	chr8:96244200-96250200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr8:96245200-96254600	Weak transcription	Fetal Muscle Leg	muscle
8	chr8:96245200-96269200	Weak transcription	Fetal Muscle Trunk	muscle
9	chr8:96245600-96280400	Weak transcription	Fetal Stomach	stomach
10	chr8:96245600-96280400	Weak transcription	Pancreas	Pancrea
11	chr8:96248000-96249800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr8:96248200-96249800	Enhancers	GM12878-XiMat	blood
13	chr8:96248400-96262200	Weak transcription	HepG2	liver
14	chr8:96249000-96280800	Weak transcription	Gastric	stomach
15	chr8:96249200-96249600	Weak transcription	Primary B cells from cord blood	blood
16	chr8:96249400-96250600	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr8:96249600-96251400	Enhancers	Primary B cells from cord blood	blood
18	chr8:96249600-96271400	Weak transcription	Aorta	Aorta
19	chr8:96249800-96250000	Flanking Active TSS	GM12878-XiMat	blood
20	chr8:96249800-96250200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
21	chr8:96249800-96251400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr8:96250000-96250200	Enhancers	GM12878-XiMat	blood
23	chr8:96250000-96250400	Enhancers	Spleen	Spleen
24	chr8:96250200-96250400	Enhancers	Stomach Smooth Muscle	stomach
25	chr8:96250200-96250400	Flanking Active TSS	GM12878-XiMat	blood
26	chr8:96250400-96251400	Enhancers	GM12878-XiMat	blood
27	chr8:96250400-96261800	Weak transcription	Spleen	Spleen
28	chr8:96250600-96251400	Enhancers	Fetal Lung	lung
29	chr8:96250600-96280400	Weak transcription	Left Ventricle	heart
30	chr8:96250800-96251000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr8:96250800-96251400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr8:96251000-96271000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr8:96251200-96280400	Weak transcription	Psoas Muscle	Psoas
34	chr8:96251400-96254400	Weak transcription	Fetal Lung	lung
35	chr8:96251400-96259800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr8:96251400-96260200	Weak transcription	Primary B cells from cord blood	blood
37	chr8:96251800-96258800	Weak transcription	Primary B cells from peripheral blood	blood
38	chr8:96252200-96263400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr8:96253400-96280400	Weak transcription	Esophagus	oesophagus
40	chr8:96254400-96255400	Enhancers	Fetal Lung	lung
41	chr8:96254400-96261600	Weak transcription	Fetal Thymus	thymus
42	chr8:96254600-96254800	Enhancers	HSMMtube	muscle
43	chr8:96254600-96255200	Enhancers	Fetal Muscle Leg	muscle
44	chr8:96254800-96255200	Active TSS	Fetal Brain Male	brain
45	chr8:96254800-96259200	Weak transcription	HSMMtube	muscle
46	chr8:96255000-96263400	Weak transcription	Brain Anterior Caudate	brain

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