Variant report

Variant	esv1832336
Chromosome Location	chr8:110397738-110437384
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:73)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:73 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr8:110418172..110419815-chr8:110421960..110424604,2	K562	blood:
2	chr8:110413920..110415799-chr8:110416017..110418773,2	MCF-7	breast:
3	chr8:110391499..110394340-chr8:110396610..110400316,3	K562	blood:
4	chr8:110431847..110433717-chr8:110434845..110437578,2	K562	blood:
5	chr8:110425956..110428666-chr8:110434429..110437325,2	K562	blood:
6	chr8:110403524..110405569-chr8:110405749..110408596,2	K562	blood:
7	chr8:110397526..110401680-chr8:110402055..110405525,5	K562	blood:
8	chr8:110403199..110405955-chr8:110549557..110552285,2	K562	blood:
9	chr8:110429847..110432433-chr8:110563129..110565263,2	K562	blood:
10	chr8:110413992..110416769-chr8:110420548..110422727,2	K562	blood:
11	chr8:110376237..110378577-chr8:110400092..110402254,2	K562	blood:
12	chr8:110411451..110413359-chr8:110418061..110419801,2	K562	blood:
13	chr8:110429688..110434092-chr8:110438385..110444037,5	K562	blood:
14	chr8:110401286..110403150-chr8:110410223..110413005,2	MCF-7	breast:
15	chr8:110397526..110401680-chr8:110402055..110405525,5	K562	blood:
16	chr8:110411451..110413359-chr8:110418061..110419801,2	K562	blood:
17	chr8:110360869..110363006-chr8:110404945..110406650,2	K562	blood:
18	chr8:110405127..110406969-chr8:110422656..110425054,2	K562	blood:
19	chr8:110374002..110377737-chr8:110399223..110401592,3	K562	blood:
20	chr8:110424030..110426775-chr8:110434347..110438153,3	K562	blood:
21	chr8:110399789..110401948-chr8:110406839..110408656,2	K562	blood:
22	chr8:110413920..110415799-chr8:110416017..110418773,2	MCF-7	breast:
23	chr8:110405127..110406969-chr8:110422656..110425054,2	K562	blood:
24	chr8:110388617..110395072-chr8:110396032..110405839,11	K562	blood:
25	chr8:110397376..110399556-chr8:110407254..110410081,2	K562	blood:
26	chr8:110435315..110437873-chr8:110551355..110553690,2	K562	blood:
27	chr8:110402628..110405263-chr8:110414380..110416350,2	MCF-7	breast:
28	chr8:110396038..110397766-chr8:110402101..110404529,2	K562	blood:
29	chr8:110420388..110423351-chr8:110425627..110427153,2	MCF-7	breast:
30	chr8:110422242..110424117-chr8:110429991..110432277,2	MCF-7	breast:
31	chr8:110401827..110406627-chr8:110422630..110427187,6	K562	blood:
32	chr8:110410046..110413726-chr8:110422893..110425486,3	K562	blood:
33	chr8:110380517..110382065-chr8:110405348..110406940,2	K562	blood:
34	chr8:110431847..110433717-chr8:110434845..110437578,2	K562	blood:
35	chr8:110434476..110437151-chr8:110440574..110442401,2	K562	blood:
36	chr8:110415571..110417491-chr8:110425418..110428260,2	K562	blood:
37	chr8:110418895..110420648-chr8:110550945..110553899,2	MCF-7	breast:
38	chr8:110396038..110397766-chr8:110402101..110404529,2	K562	blood:
39	chr8:110402628..110405263-chr8:110414380..110416350,2	MCF-7	breast:
40	chr8:110422242..110424117-chr8:110429991..110432277,2	MCF-7	breast:
41	chr8:110436373..110439207-chr8:110551995..110553690,2	K562	blood:
42	chr8:110424209..110426858-chr8:110430949..110433063,2	K562	blood:
43	chr8:110399789..110401392-chr8:110406709..110408339,2	K562	blood:
44	chr8:110410046..110413726-chr8:110422893..110425486,3	K562	blood:
45	chr8:110401286..110403150-chr8:110410223..110413005,2	MCF-7	breast:
46	chr8:110397373..110399828-chr8:110505690..110508375,2	K562	blood:
47	chr8:110425956..110428666-chr8:110434429..110437325,2	K562	blood:
48	chr8:110397376..110399556-chr8:110407254..110410081,2	K562	blood:
49	chr8:110414719..110417184-chr8:110648514..110651300,2	MCF-7	breast:
50	chr8:110413992..110416769-chr8:110420548..110422727,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000147654	chromatin interactions
ENSG00000120533	chromatin interactions
ENSG00000205038	chromatin interactions
ENSG00000120526	chromatin interactions

Extended variants
information (count: 1137 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:1137 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs546787738	chr8:110398262-110398263	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs145755343	chr8:110398272-110398273	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs184859004	chr8:110398295-110398296	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs148205938	chr8:110398358-110398359	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs189079154	chr8:110398375-110398376	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs535477209	chr8:110398412-110398413	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs10099367	chr8:110398442-110398443	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs569193494	chr8:110398464-110398465	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs181026577	chr8:110398470-110398471	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs538175584	chr8:110398480-110398481	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs80286998	chr8:110398496-110398497	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs577053013	chr8:110398500-110398501	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs546417314	chr8:110398506-110398507	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs368233522	chr8:110398536-110398537	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs150471921	chr8:110398553-110398554	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs79806376	chr8:110398624-110398625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs542476222	chr8:110398670-110398671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs562268208	chr8:110398693-110398694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs138335879	chr8:110398700-110398701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs578123688	chr8:110398704-110398705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs547506841	chr8:110398739-110398740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs186013580	chr8:110398768-110398769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs189733212	chr8:110398794-110398795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs549865965	chr8:110398808-110398809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs79846116	chr8:110398818-110398819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs74326072	chr8:110398819-110398820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs78730671	chr8:110398820-110398821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs553362315	chr8:110398873-110398874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs147377049	chr8:110398876-110398877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs573240754	chr8:110399050-110399051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs533847261	chr8:110399109-110399110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs117156328	chr8:110399131-110399132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs540616796	chr8:110399167-110399168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs181307499	chr8:110399214-110399215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs573729163	chr8:110399221-110399222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs537658917	chr8:110399238-110399239	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs548436661	chr8:110399248-110399249	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs142934586	chr8:110399253-110399254	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs968125	chr8:110399254-110399255	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs377285644	chr8:110399262-110399263	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs10282805	chr8:110399270-110399271	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs539502526	chr8:110399280-110399281	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs372414304	chr8:110399294-110399295	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs556310527	chr8:110399299-110399300	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs58415331	chr8:110399324-110399325	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs79496868	chr8:110399330-110399331	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs56932873	chr8:110399365-110399366	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs73700874	chr8:110399377-110399378	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs370272851	chr8:110399439-110399440	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs117523641	chr8:110399464-110399465	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:104)

Disease	PMID	Source
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
Gastric cancer	17908304	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	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
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	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
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
Colorectal cancer	16774939	CNVD
Autosomal-dominant progressive external ophthalmoplegia	19664747	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Multiple myeloma	16461302	CNVD
Sezary syndrome	18413736	CNVD
Breast cancer	21611746	CNVD
Developmental delay	21147756	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Gastric cancer	22539939	CNVD
Non-small cell lung cancer	19010865	CNVD
small cell lung cancer	20016488	CNVD
Oral squamous cell carcinoma	21853135	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21364760	CNVD
Colorectal cancer	21645411	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD
Breast cancer	22522925	CNVD
Prostate cancer	22341455	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Gastric cancer	22014070	CNVD
Ovarian cancer	21781307	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:110398200-110398600	Enhancers	K562	blood
2	chr8:110398600-110401400	Weak transcription	K562	blood
3	chr8:110399400-110400000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr8:110399800-110400400	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr8:110400000-110400200	Bivalent Enhancer	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr8:110401400-110402200	Enhancers	K562	blood
7	chr8:110401600-110402600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr8:110402200-110403600	Weak transcription	K562	blood
9	chr8:110402600-110404400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr8:110403600-110403800	Enhancers	Brain Germinal Matrix	brain
11	chr8:110403600-110404200	Enhancers	K562	blood
12	chr8:110404000-110405000	Weak transcription	Brain Germinal Matrix	brain
13	chr8:110404200-110405000	Weak transcription	K562	blood
14	chr8:110404400-110404600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr8:110404600-110405000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr8:110405000-110405600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr8:110405000-110405800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr8:110405000-110405800	Enhancers	Brain Germinal Matrix	brain
19	chr8:110405000-110406000	Enhancers	K562	blood
20	chr8:110405800-110406800	Weak transcription	Brain Germinal Matrix	brain
21	chr8:110406000-110408600	Weak transcription	K562	blood
22	chr8:110407000-110407200	Enhancers	Brain Germinal Matrix	brain
23	chr8:110407000-110407400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr8:110408600-110409000	Enhancers	K562	blood
25	chr8:110409000-110409400	Enhancers	Primary neutrophils fromperipheralblood	blood
26	chr8:110409400-110414200	Weak transcription	Primary neutrophils fromperipheralblood	blood
27	chr8:110414200-110415800	Enhancers	Primary neutrophils fromperipheralblood	blood
28	chr8:110418800-110421600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr8:110419800-110421200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr8:110423600-110423800	Enhancers	K562	blood
31	chr8:110423600-110424600	Enhancers	HUVEC	blood vessel
32	chr8:110423800-110424200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr8:110423800-110424200	Flanking Active TSS	K562	blood
34	chr8:110423800-110424800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr8:110424000-110424600	Enhancers	Muscle Satellite Cultured Cells	--
36	chr8:110424200-110424400	Enhancers	A549	lung
37	chr8:110424200-110424400	Active TSS	K562	blood
38	chr8:110424200-110424600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr8:110424400-110424600	Flanking Active TSS	K562	blood
40	chr8:110424600-110424800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr8:110424600-110424800	Active TSS	K562	blood
42	chr8:110424800-110425800	Weak transcription	K562	blood
43	chr8:110425800-110426000	Enhancers	K562	blood
44	chr8:110427600-110428200	Enhancers	Fetal Intestine Small	intestine
45	chr8:110428200-110428600	Weak transcription	Fetal Intestine Small	intestine
46	chr8:110428600-110429200	Enhancers	Fetal Intestine Small	intestine
47	chr8:110430800-110431200	Enhancers	iPS-18 Cell Line	embryonic stem cell
48	chr8:110430800-110431600	Enhancers	HUES48 Cell Line	embryonic stem cell
49	chr8:110434400-110435400	Active TSS	K562	blood
50	chr8:110436600-110437000	Enhancers	Stomach Mucosa	stomach

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