Variant report

Variant	esv3322914
Chromosome Location	chr8:96090176-96094674
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:37)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:37 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr8:96090295-96090613	GM12878	blood:	n/a	n/a
2	ATF2	chr8:96090166-96090783	GM12878	blood:	n/a	n/a
3	BATF	chr8:96090359-96090560	GM12878	blood:	n/a	n/a
4	BCL11A	chr8:96090285-96090636	GM12878	blood:	n/a	n/a
5	BCL3	chr8:96090184-96090707	GM12878	blood:	n/a	n/a
6	BCLAF1	chr8:96090180-96090741	GM12878	blood:	n/a	n/a
7	CEBPB	chr8:96090294-96090572	GM12878	blood:	n/a	n/a
8	CEBPB	chr8:96092955-96092972	A549	lung:	n/a	n/a
9	CEBPB	chr8:96090259-96090801	GM12878	blood:	n/a	n/a
10	CTCF	chr8:96093610-96093688	Lung_OC	lung:	n/a	n/a
11	CTCF	chr8:96090160-96090310	GM12865	blood:	n/a	n/a
12	CTCF	chr8:96091968-96092024	Kidney_OC	kidney:	n/a	n/a
13	EBF1	chr8:96090212-96090644	GM12878	blood:	n/a	chr8:96090431-96090442 chr8:96090432-96090442
14	EBF1	chr8:96090247-96090576	GM12878	blood:	n/a	chr8:96090431-96090442 chr8:96090432-96090442
15	EBF1	chr8:96090225-96090728	GM12878	blood:	n/a	chr8:96090431-96090442 chr8:96090432-96090442
16	EP300	chr8:96091042-96091085	K562	blood:	n/a	n/a
17	FOXM1	chr8:96090162-96090765	GM12878	blood:	n/a	n/a
18	MEF2A	chr8:96090188-96090707	GM12878	blood:	n/a	n/a
19	MTA3	chr8:96090240-96090772	GM12878	blood:	n/a	n/a
20	MTA3	chr8:96089933-96090708	GM12878	blood:	n/a	n/a
21	NFIC	chr8:96090098-96090790	GM12878	blood:	n/a	n/a
22	NFIC	chr8:96092602-96092962	HepG2	liver:	n/a	n/a
23	NFIC	chr8:96090012-96090814	GM12878	blood:	n/a	n/a
24	PAX5	chr8:96090240-96090588	GM12878	blood:	n/a	n/a
25	PAX5	chr8:96090217-96090693	GM12878	blood:	n/a	n/a
26	PAX5	chr8:96090295-96090540	GM12878	blood:	n/a	n/a
27	PML	chr8:96090076-96090774	GM12878	blood:	n/a	n/a
28	POU2F2	chr8:96090240-96090701	GM12891	blood:	n/a	n/a
29	POU2F2	chr8:96090234-96090752	GM12891	blood:	n/a	n/a
30	POU2F2	chr8:96090314-96090696	GM12878	blood:	n/a	n/a
31	RAD21	chr8:96090284-96090551	GM12878	blood:	n/a	chr8:96090294-96090304
32	RUNX3	chr8:96090115-96090769	GM12878	blood:	n/a	n/a
33	RUNX3	chr8:96089754-96090840	GM12878	blood:	n/a	n/a
34	STAT5A	chr8:96090239-96090735	GM12878	blood:	n/a	n/a
35	STAT5A	chr8:96090221-96090684	GM12878	blood:	n/a	n/a
36	TCF12	chr8:96090294-96090532	GM12878	blood:	n/a	n/a
37	TCF12	chr8:96090344-96090592	GM12878	blood:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:96093933..96096072-chr8:96147295..96149414,2	K562	blood:
2	chr8:96087997..96090482-chr8:96096727..96098708,2	K562	blood:
3	chr8:96081390..96083933-chr8:96088865..96090424,2	K562	blood:
4	chr8:96093323..96095396-chr8:96123393..96125579,2	MCF-7	breast:
5	chr8:96092840..96095684-chr8:96102296..96104588,4	K562	blood:
6	chr8:96093660..96095211-chr8:96144861..96146789,2	K562	blood:
7	chr8:96082201..96091738-chr8:96143838..96148400,13	MCF-7	breast:
8	chr8:96087016..96088619-chr8:96092629..96094625,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TP53INP1-2	chr8:96090749-96090872	ENSG00000254248.1
2	lnc-PLEKHF2-3	chr8:96093160-96093807	NONHSAT127823

No data

Variant related genes	Relation type
MIR3150A	TF binding region
ENSG00000175895	chromatin interactions

Extended variants
information (count: 185 )
Associated
traits (count: 109 )

Variant overlapped rSNPs/rCNVs (count:185 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs145110498	chr8:96090194-96090195	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs149108550	chr8:96090229-96090230	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs143621420	chr8:96090230-96090231	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs555924054	chr8:96090232-96090233	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs116067299	chr8:96090258-96090259	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs2599702	chr8:96090259-96090260	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs532015678	chr8:96090431-96090432	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs550622112	chr8:96090483-96090484	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs146786638	chr8:96090503-96090504	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs570458857	chr8:96090515-96090516	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs370998724	chr8:96090598-96090599	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs140631514	chr8:96090731-96090732	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs112076412	chr8:96090768-96090769	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
14	rs368658515	chr8:96090796-96090797	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
15	rs374557291	chr8:96090809-96090810	Weak transcription Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
16	rs542717810	chr8:96090888-96090889	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs545018367	chr8:96090890-96090891	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs55761801	chr8:96090891-96090892	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs140081620	chr8:96090892-96090893	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs181687081	chr8:96090905-96090906	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs57127319	chr8:96090910-96090911	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs61599136	chr8:96090954-96090955	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs189609425	chr8:96091007-96091008	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs531481365	chr8:96091050-96091051	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs181104462	chr8:96091118-96091119	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs186339054	chr8:96091127-96091128	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs527305439	chr8:96091312-96091313	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs76487979	chr8:96091324-96091325	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs112245696	chr8:96091325-96091326	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs2678840	chr8:96091346-96091347	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs372218550	chr8:96091389-96091390	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs2599701	chr8:96091392-96091393	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs538783659	chr8:96091412-96091413	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs558796876	chr8:96091443-96091444	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs76968877	chr8:96091477-96091478	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs372425369	chr8:96091519-96091520	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs2923814	chr8:96091640-96091641	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs373335597	chr8:96091843-96091844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs76206162	chr8:96091852-96091853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs544125117	chr8:96091870-96091871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs563960928	chr8:96091873-96091874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs11440357	chr8:96091947-96091948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs397935062	chr8:96091960-96091961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs577377231	chr8:96091969-96091970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs191193821	chr8:96091981-96091982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs180787505	chr8:96091982-96091983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs527362801	chr8:96092011-96092012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs547030065	chr8:96092012-96092013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs560542861	chr8:96092013-96092014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs7011966	chr8:96092029-96092030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:109)

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
Breast cancer	22522925	CNVD

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:96080200-96101800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr8:96085600-96098200	Weak transcription	Gastric	stomach
3	chr8:96086000-96092200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr8:96086000-96098200	Weak transcription	Thymus	Thymus
5	chr8:96087400-96091200	Enhancers	Primary B cells from cord blood	blood
6	chr8:96087800-96090200	Enhancers	NHEK	skin
7	chr8:96088000-96090400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr8:96088000-96090400	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr8:96088000-96090800	Weak transcription	Brain Angular Gyrus	brain
10	chr8:96088200-96098000	Weak transcription	Fetal Kidney	kidney
11	chr8:96088600-96090200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr8:96088600-96093800	Weak transcription	A549	lung
13	chr8:96088600-96097600	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr8:96088600-96098000	Weak transcription	K562	blood
15	chr8:96088800-96093600	Weak transcription	Fetal Intestine Small	intestine
16	chr8:96088800-96097000	Weak transcription	Primary neutrophils fromperipheralblood	blood
17	chr8:96088800-96097600	Weak transcription	Placenta	Placenta
18	chr8:96088800-96098000	Weak transcription	HepG2	liver
19	chr8:96089200-96090200	Enhancers	HMEC	breast
20	chr8:96089200-96090200	Enhancers	NH-A	brain
21	chr8:96089200-96090400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr8:96089200-96091200	Enhancers	Primary B cells from peripheral blood	blood
23	chr8:96089400-96091200	Enhancers	GM12878-XiMat	blood
24	chr8:96089800-96090200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr8:96089800-96090400	Enhancers	Spleen	Spleen
26	chr8:96089800-96091200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr8:96090000-96090200	Enhancers	Brain Hippocampus Middle	brain
28	chr8:96090000-96090200	Enhancers	Pancreas	Pancrea
29	chr8:96090000-96090600	Enhancers	Primary hematopoietic stem cells short term culture	blood
30	chr8:96090000-96090800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr8:96090200-96090400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
32	chr8:96090200-96090400	Weak transcription	Pancreas	Pancrea
33	chr8:96090200-96090600	Weak transcription	Brain Hippocampus Middle	brain
34	chr8:96090400-96090600	Enhancers	Sigmoid Colon	Sigmoid Colon
35	chr8:96090600-96098200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
36	chr8:96091200-96094600	Weak transcription	Primary B cells from peripheral blood	blood
37	chr8:96091200-96095600	Weak transcription	Primary B cells from cord blood	blood
38	chr8:96094600-96094800	Enhancers	Primary B cells from peripheral blood	blood

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