Variant report

Variant	esv1797811
Chromosome Location	chr8:131054236-131062502
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	chr8:131052756..131054836-chr8:131056637..131059542,2	K562	blood:
2	chr12:11801638..11802342-chr8:131054390..131055145,2	Hela-S3	cervix:
3	chr8:131056726..131059122-chr8:131059475..131061608,2	K562	blood:
4	chr8:131027337..131029043-chr8:131052659..131055110,2	MCF-7	breast:
5	chr8:131057701..131060248-chr8:131066752..131069472,2	K562	blood:
6	chr8:131027127..131029868-chr8:131056253..131058573,2	MCF-7	breast:
7	chr8:130950187..130952825-chr8:131053806..131055641,2	MCF-7	breast:
8	chr8:131027480..131030548-chr8:131053151..131055145,3	K562	blood:
9	chr8:131052756..131054836-chr8:131056637..131059542,2	K562	blood:
10	chr8:131045657..131048618-chr8:131053552..131056058,2	K562	blood:
11	chr8:131056726..131059122-chr8:131059475..131061608,2	K562	blood:
12	chr8:131044244..131046702-chr8:131056220..131058655,2	MCF-7	breast:
13	chr8:131027956..131030548-chr8:131051985..131055056,3	K562	blood:
14	chr8:131047199..131051287-chr8:131052494..131054886,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000153310	chromatin interactions
ENSG00000253720	chromatin interactions

Extended variants
information (count: 419 )
Associated
traits (count: 153 )

Variant overlapped rSNPs/rCNVs (count:419 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4295708	chr8:131054236-131054237	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs553432541	chr8:131054258-131054259	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs572301999	chr8:131054261-131054262	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs539392589	chr8:131054276-131054277	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs117587647	chr8:131054279-131054280	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs375753752	chr8:131054289-131054290	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs16904196	chr8:131054290-131054291	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs567775185	chr8:131054317-131054318	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs561463855	chr8:131054333-131054334	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs192885868	chr8:131054373-131054374	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs140719142	chr8:131054444-131054445	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs113246028	chr8:131054492-131054493	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs540619906	chr8:131054540-131054541	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs374939339	chr8:131054560-131054561	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs533634686	chr8:131054612-131054613	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs545379778	chr8:131054615-131054616	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs11774067	chr8:131054622-131054623	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs144516886	chr8:131054654-131054655	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs549633635	chr8:131054655-131054656	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs114692388	chr8:131054721-131054722	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs78924687	chr8:131054727-131054728	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs534089328	chr8:131054827-131054828	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs184825022	chr8:131054922-131054923	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs547008076	chr8:131054943-131054944	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs571562818	chr8:131054947-131054948	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs539676122	chr8:131054972-131054973	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs557791139	chr8:131054978-131054979	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs116095321	chr8:131055020-131055021	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs536826102	chr8:131055081-131055082	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs555188082	chr8:131055096-131055097	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs147861839	chr8:131055104-131055105	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs553724080	chr8:131055114-131055115	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs558045443	chr8:131055139-131055140	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs187684609	chr8:131055140-131055141	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs112063534	chr8:131055165-131055166	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs7813123	chr8:131055201-131055202	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs545646955	chr8:131055213-131055214	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs563812202	chr8:131055232-131055233	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs531264826	chr8:131055236-131055237	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs543241191	chr8:131055338-131055339	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs191336909	chr8:131055340-131055341	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs183483043	chr8:131055346-131055347	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs547121934	chr8:131055353-131055354	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs571592184	chr8:131055374-131055375	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs11774943	chr8:131055408-131055409	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs561845715	chr8:131055429-131055430	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs569847518	chr8:131055472-131055473	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs141317678	chr8:131055487-131055488	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs369774539	chr8:131055505-131055506	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs555100082	chr8:131055533-131055534	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:153)

Disease	PMID	Source
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
Gastric cancer	17908304	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Testicular cancer	18059402	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	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	17603634	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	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
Acute myeloid leukemia	20729466	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
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	21399628	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
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Developmental delay	21147756	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Non-small cell lung cancer	19010865	CNVD
small cell lung cancer	20016488	CNVD
Papillary thyroid cancer	17515504	CNVD
Basal cell lymphoma	17053054	CNVD
Gastric cancer	21528007	CNVD
Breast cancer	22532251	CNVD
Cervical cancer	21062161	CNVD
Cancer	21129771	CNVD
benign familial neonatal convulsions	18472482	CNVD
Breast cancer	16417655	CNVD
Astrocytoma	17387387	CNVD
Cancer	21183584	CNVD
Follicular lymphoma	20505157	CNVD
T-cell lymphomas	19863542	CNVD
Colorectal cancer	20709793	CNVD
Medulloblastoma	20607354	CNVD
Breast cancer	20814816	CNVD
Colorectal cancer	22486879	CNVD
Breast cancer	17908964	CNVD
Colorectal cancer	20031965	CNVD
Hepatocellular carcinoma	16750200	CNVD
Ovarian cancer	17908964	CNVD
Ovarian cancer	20031965	CNVD
Prostate cancer	20031965	CNVD
Non-small cell lung cancer	17643093	CNVD
Prostate cancer	19242612	CNVD
Colorectal cancer	16774939	CNVD
Malignant melanoma	17260012	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Acute myeloid leukemia	17268525	CNVD
Acute myeloid leukemia	18379011	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Sezary syndrome	18413736	CNVD
Breast cancer	22048815	CNVD
Colorectal cancer	16912164	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Lung adenocarcinoma	21148746	CNVD
Lung cancer	21911935	CNVD
Breast cancer	20459607	CNVD
Medulloblastoma	19270706	CNVD
Acute myeloid leukemia	19651601	CNVD
Colorectal cancer	21645411	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Colorectal cancer	19455253	CNVD
Glioblastoma multiforme	22286061	CNVD
Colorectal cancer	22860045	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Lung cancer	17925434	CNVD
Non-small cell lung cancer	21829676	CNVD
Prostate cancer	17217626	CNVD
Cancer	17160897	CNVD
Breast cancer	16497871	CNVD
Colorectal cancer	16882699	CNVD
Cystic fibrosis	19273617	CNVD
Chronic stroke	19622162	CNVD
Chordoma	18071362	CNVD
Breast cancer	17850661	CNVD
head and neck squamous cell carcinoma	16740747	CNVD
Gastric cancer	22539939	CNVD
Breast cancer	16272173	CNVD
Uveal melanoma	20484589	CNVD
Ovarian cancer	20844748	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21611746	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:677 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131041400-131068600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr8:131043000-131058200	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr8:131046000-131054400	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr8:131050000-131054400	Weak transcription	Thymus	Thymus
5	chr8:131050800-131054400	Weak transcription	Colonic Mucosa	Colon
6	chr8:131051200-131054400	Weak transcription	Right Atrium	heart
7	chr8:131051800-131054400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr8:131051800-131063800	Weak transcription	Aorta	Aorta
9	chr8:131052400-131054800	Weak transcription	Fetal Intestine Small	intestine
10	chr8:131053200-131054400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr8:131053200-131054400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr8:131053200-131055400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr8:131053200-131055400	Enhancers	Placenta Amnion	Placenta Amnion
14	chr8:131053200-131055600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
15	chr8:131053200-131057800	Enhancers	Primary B cells from peripheral blood	blood
16	chr8:131053600-131054600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr8:131053600-131054800	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr8:131053800-131054400	Enhancers	Primary T cells fromperipheralblood	blood
19	chr8:131053800-131054400	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr8:131053800-131054400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
21	chr8:131053800-131054400	Enhancers	Primary T helper cells PMA-I stimulated	--
22	chr8:131053800-131055200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr8:131053800-131055200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr8:131053800-131055200	Enhancers	Fetal Thymus	thymus
25	chr8:131053800-131055200	Enhancers	Spleen	Spleen
26	chr8:131053800-131055200	Flanking Active TSS	Hela-S3	cervix
27	chr8:131053800-131055400	Enhancers	Primary T helper cells fromperipheralblood	blood
28	chr8:131053800-131055400	Enhancers	Stomach Mucosa	stomach
29	chr8:131053800-131055400	Flanking Active TSS	GM12878-XiMat	blood
30	chr8:131053800-131055600	Enhancers	Primary hematopoietic stem cells	blood
31	chr8:131054000-131054400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
32	chr8:131054000-131054400	Enhancers	Primary T killer memory cells from peripheral blood	blood
33	chr8:131054000-131054400	Enhancers	Duodenum Mucosa	Duodenum
34	chr8:131054000-131054400	Enhancers	K562	blood
35	chr8:131054000-131054600	Enhancers	Duodenum Smooth Muscle	Duodenum
36	chr8:131054000-131055000	Enhancers	Lung	lung
37	chr8:131054000-131055200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr8:131054000-131055200	Enhancers	Breast Myoepithelial Primary Cells	Breast
39	chr8:131054000-131055200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
40	chr8:131054000-131055200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
41	chr8:131054000-131055200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
42	chr8:131054000-131055200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr8:131054000-131055200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr8:131054000-131055200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
45	chr8:131054000-131055200	Enhancers	Brain Anterior Caudate	brain
46	chr8:131054000-131055200	Enhancers	Esophagus	oesophagus
47	chr8:131054000-131055200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
48	chr8:131054000-131055200	Flanking Active TSS	A549	lung
49	chr8:131054000-131055200	Flanking Active TSS	NHEK	skin
50	chr8:131054000-131055400	Enhancers	Primary T helper naive cells from peripheral blood	blood

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