Variant report

Variant	esv1797821
Chromosome Location	chr8:103234077-103241531
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:13)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:13 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr8:103237480-103237630	BE2_C	brain:	n/a	n/a
2	CTCF	chr8:103237503-103237538	Kidney_OC	kidney:	n/a	n/a
3	CTCF	chr8:103237506-103237586	MCF-7	breast:	n/a	n/a
4	POLR2A	chr8:103240921-103240929	A549	lung:	n/a	n/a
5	POLR2A	chr8:103241002-103241004	MCF-7	breast:	n/a	n/a
6	POLR2A	chr8:103240170-103240182	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr8:103239676-103239715	ProgFib	skin:	n/a	n/a
8	POLR2A	chr8:103241124-103241197	ProgFib	skin:	n/a	n/a
9	POLR2A	chr8:103237178-103237212	ProgFib	skin:	n/a	n/a
10	POLR2A	chr8:103236515-103236602	MCF-7	breast:	n/a	n/a
11	POLR2A	chr8:103240108-103240153	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr8:103240896-103241024	MCF-7	breast:	n/a	n/a
13	USF1	chr8:103240019-103240208	K562	blood:	n/a	n/a

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:103224036..103225570-chr8:103238555..103240189,2	K562	blood:
2	chr8:103240120..103242197-chr8:103818124..103819971,2	K562	blood:
3	chr8:103235255..103236894-chr8:103273112..103275044,2	MCF-7	breast:
4	chr8:103234133..103236332-chr8:103237027..103238815,2	MCF-7	breast:
5	chr8:103233367..103236328-chr8:103240756..103243276,2	MCF-7	breast:
6	chr8:103239162..103241164-chr8:103243127..103246074,2	K562	blood:
7	chr8:103233367..103236328-chr8:103240756..103243276,2	MCF-7	breast:
8	chr8:103232033..103234810-chr8:103243383..103246591,3	K562	blood:
9	chr8:103238918..103240995-chr8:103242872..103245266,2	MCF-7	breast:
10	chr8:103234133..103236332-chr8:103237027..103238815,2	MCF-7	breast:
11	chr8:103228632..103231475-chr8:103233199..103236047,2	MCF-7	breast:
12	chr8:103236146..103239308-chr8:103249125..103251981,4	MCF-7	breast:
13	chr8:103241352..103244052-chr8:103875043..103877128,2	K562	blood:
14	chr8:103236803..103238462-chr8:103242289..103245252,2	MCF-7	breast:
15	chr8:103229075..103231753-chr8:103237242..103240149,2	K562	blood:

No data

Variant related genes	Relation type
RRM2B	TF binding region
ENSG00000104517	chromatin interactions
ENSG00000253669	chromatin interactions
ENSG00000246263	chromatin interactions
ENSG00000155096	chromatin interactions
ENSG00000048392	chromatin interactions
ENSG00000253320	chromatin interactions

Extended variants
information (count: 283 )
Associated
traits (count: 114 )

Variant overlapped rSNPs/rCNVs (count:283 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs564526134	chr8:103234079-103234080	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs79511002	chr8:103234114-103234115	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs543879010	chr8:103234161-103234162	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs2925790	chr8:103234168-103234169	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs529889733	chr8:103234253-103234254	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs547991194	chr8:103234297-103234298	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs5893602	chr8:103234308-103234309	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs370486301	chr8:103234372-103234373	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs559972084	chr8:103234467-103234468	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs527605062	chr8:103234472-103234473	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs76080625	chr8:103234503-103234504	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs71518850	chr8:103234515-103234516	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs188004086	chr8:103234656-103234657	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs537469469	chr8:103234675-103234676	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs549842630	chr8:103234689-103234690	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs373408116	chr8:103234716-103234717	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs377366182	chr8:103234816-103234817	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs28928580	chr8:103234834-103234835	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	mRNA abundance
19	rs2607656	chr8:103234908-103234909	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs541446788	chr8:103234925-103234926	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs564544969	chr8:103234939-103234940	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs572748239	chr8:103234940-103234941	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs540152326	chr8:103234942-103234943	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs28927369	chr8:103234997-103234998	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs28927368	chr8:103235050-103235051	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs549219847	chr8:103235064-103235065	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs201262751	chr8:103235117-103235118	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs550544224	chr8:103235137-103235138	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs191324109	chr8:103235225-103235226	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs28928579	chr8:103235257-103235258	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs28928578	chr8:103235276-103235277	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs28928577	chr8:103235363-103235364	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs573799809	chr8:103235423-103235424	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs541598663	chr8:103235439-103235440	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs538150817	chr8:103235461-103235462	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs144101337	chr8:103235594-103235595	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs551337371	chr8:103235657-103235658	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs527519105	chr8:103235702-103235703	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs552423700	chr8:103235735-103235736	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs183514948	chr8:103235741-103235742	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs11783467	chr8:103235791-103235792	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs531325761	chr8:103235819-103235820	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs141136644	chr8:103235910-103235911	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs112093966	chr8:103235918-103235919	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs370105003	chr8:103235956-103235957	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs28928576	chr8:103235968-103235969	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs200564582	chr8:103236000-103236001	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs62524303	chr8:103236074-103236075	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs527479349	chr8:103236135-103236136	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs193129592	chr8:103236162-103236163	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:114)

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
Cancer	20164920	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
Autism	22495309	CNVD
Prostate cancer	22341455	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:433 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103209800-103236800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr8:103209800-103239200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr8:103209800-103244800	Weak transcription	Stomach Mucosa	stomach
4	chr8:103210600-103239600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr8:103215600-103248400	Weak transcription	Psoas Muscle	Psoas
6	chr8:103216200-103247400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr8:103216400-103245200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr8:103216400-103246600	Strong transcription	Primary neutrophils fromperipheralblood	blood
9	chr8:103217000-103248400	Weak transcription	Small Intestine	intestine
10	chr8:103217200-103240000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr8:103217200-103240200	Strong transcription	Primary monocytes fromperipheralblood	blood
12	chr8:103217200-103240200	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr8:103217400-103238400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr8:103217800-103239800	Weak transcription	K562	blood
15	chr8:103217800-103246400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr8:103218000-103246200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr8:103218400-103238600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr8:103218400-103240000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
19	chr8:103218600-103244200	Weak transcription	Fetal Heart	heart
20	chr8:103219200-103238400	Strong transcription	Liver	Liver
21	chr8:103219200-103247600	Weak transcription	Fetal Brain Male	brain
22	chr8:103220200-103237200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr8:103220400-103248800	Weak transcription	Hela-S3	cervix
24	chr8:103221000-103236200	Weak transcription	NHEK	skin
25	chr8:103221800-103238600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr8:103222600-103246000	Strong transcription	Osteobl	bone
27	chr8:103223200-103238200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr8:103223200-103238400	Strong transcription	Duodenum Smooth Muscle	Duodenum
29	chr8:103223200-103238600	Strong transcription	HUES48 Cell Line	embryonic stem cell
30	chr8:103225200-103237000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr8:103226400-103240000	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr8:103227600-103238200	Strong transcription	Primary B cells from peripheral blood	blood
33	chr8:103227600-103246800	Strong transcription	Primary B cells from cord blood	blood
34	chr8:103227800-103237400	Strong transcription	NHDF-Ad	bronchial
35	chr8:103228000-103242200	Strong transcription	HUES64 Cell Line	embryonic stem cell
36	chr8:103228600-103238400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
37	chr8:103229400-103237400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr8:103229400-103239000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr8:103229600-103234600	Strong transcription	A549	lung
40	chr8:103229600-103237600	Strong transcription	Skeletal Muscle Female	skeletal muscle
41	chr8:103229600-103240200	Strong transcription	Placenta	Placenta
42	chr8:103229600-103246800	Strong transcription	Primary hematopoietic stem cells	blood
43	chr8:103229800-103234600	Strong transcription	Rectal Smooth Muscle	rectum
44	chr8:103229800-103234800	Strong transcription	ES-I3 Cell Line	embryonic stem cell
45	chr8:103229800-103234800	Strong transcription	HSMMtube	muscle
46	chr8:103229800-103235200	Strong transcription	Stomach Smooth Muscle	stomach
47	chr8:103229800-103236000	Strong transcription	Skeletal Muscle Male	skeletal muscle
48	chr8:103229800-103236000	Strong transcription	GM12878-XiMat	blood
49	chr8:103229800-103237400	Strong transcription	Duodenum Mucosa	Duodenum
50	chr8:103229800-103237600	Strong transcription	H1 Cell Line	embryonic stem cell

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