Variant report

Variant	esv13932
Chromosome Location	chr8:95558324-95561351
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:15)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr8:95559244-95559249	K562	blood:	n/a	n/a
2	GATA3	chr8:95558150-95558706	MCF-7	breast:	n/a	n/a
3	JUN	chr8:95559566-95559683	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr8:95558325-95558567	K562	blood:	n/a	n/a
5	POLR2A	chr8:95559071-95559204	GM12878	blood:	n/a	n/a
6	POLR2A	chr8:95558872-95559481	K562	blood:	n/a	n/a
7	POLR2A	chr8:95558320-95558326	GM12878	blood:	n/a	n/a
8	POLR2A	chr8:95558892-95559054	HepG2	liver:	n/a	n/a
9	SPI1	chr8:95559663-95559789	GM12878	blood:	n/a	n/a
10	SPI1	chr8:95559631-95559892	HL-60	blood:	n/a	n/a
11	SPI1	chr8:95559595-95559869	GM12891	blood:	n/a	n/a
12	SPI1	chr8:95559561-95559847	GM12891	blood:	n/a	n/a
13	SPI1	chr8:95559509-95559960	HL-60	blood:	n/a	n/a
14	SPI1	chr8:95559525-95559861	GM12878	blood:	n/a	n/a
15	SPI1	chr8:95559613-95559844	K562	blood:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:95548641..95550186-chr8:95556999..95558731,2	K562	blood:
2	chr8:95558228..95561115-chr8:95906355..95909204,2	K562	blood:
3	chr8:95553642..95556255-chr8:95557800..95559824,2	K562	blood:
4	chr8:95556183..95559262-chr8:95651441..95653267,3	MCF-7	breast:
5	chr8:95557664..95559966-chr8:95650412..95652511,2	MCF-7	breast:
6	chr8:95537067..95539960-chr8:95561344..95563037,2	MCF-7	breast:
7	chr8:95555945..95557652-chr8:95557953..95559866,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000212997	TF binding region
ENSG00000253704	TF binding region
KIAA1429	TF binding region
ENSG00000261437	chromatin interactions
ENSG00000164944	chromatin interactions
ENSG00000156170	chromatin interactions
ENSG00000175305	chromatin interactions

Extended variants
information (count: 108 )
Associated
traits (count: 109 )

Variant overlapped rSNPs/rCNVs (count:108 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3102871	chr8:95558373-95558374	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs572643817	chr8:95558400-95558401	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
3	rs539916733	chr8:95558419-95558420	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
4	rs182937944	chr8:95558421-95558422	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
5	rs559849535	chr8:95558428-95558429	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
6	rs539155216	chr8:95558453-95558454	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
7	rs573417006	chr8:95558456-95558457	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
8	rs552983918	chr8:95558486-95558487	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
9	rs187616476	chr8:95558509-95558510	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
10	rs562505861	chr8:95558525-95558526	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
11	rs191028165	chr8:95558527-95558528	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
12	rs551696267	chr8:95558557-95558558	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
13	rs564928989	chr8:95558571-95558572	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
14	rs80122848	chr8:95558662-95558663	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
15	rs1992370	chr8:95558694-95558695	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs567730369	chr8:95558729-95558730	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs536767258	chr8:95558736-95558737	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs75351432	chr8:95558758-95558759	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs570070654	chr8:95558761-95558762	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs376277368	chr8:95558770-95558771	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs538957500	chr8:95558804-95558805	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs3102872	chr8:95558813-95558814	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs572532025	chr8:95558854-95558855	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs182816502	chr8:95558920-95558921	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
25	rs575585575	chr8:95558939-95558940	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
26	rs573353979	chr8:95558940-95558941	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
27	rs542324404	chr8:95558958-95558959	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
28	rs562336468	chr8:95558975-95558976	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
29	rs576012121	chr8:95558989-95558990	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
30	rs544952530	chr8:95558990-95558991	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
31	rs373553295	chr8:95559039-95559040	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
32	rs533530232	chr8:95559050-95559051	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
33	rs3133651	chr8:95559092-95559093	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs558176604	chr8:95559102-95559103	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
35	rs535153820	chr8:95559128-95559129	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
36	rs370693368	chr8:95559129-95559130	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
37	rs547292415	chr8:95559139-95559140	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
38	rs12334990	chr8:95559186-95559187	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs530206063	chr8:95559225-95559226	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
40	rs550294369	chr8:95559228-95559229	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
41	rs569926843	chr8:95559262-95559263	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
42	rs539054899	chr8:95559293-95559294	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
43	rs552304218	chr8:95559308-95559309	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
44	rs140437008	chr8:95559310-95559311	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
45	rs534988322	chr8:95559328-95559329	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
46	rs58408347	chr8:95559348-95559349	Weak transcription Enhancers Genic enhancers Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs574733478	chr8:95559425-95559426	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
48	rs535963674	chr8:95559440-95559441	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
49	rs187534886	chr8:95559532-95559533	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
50	rs575931943	chr8:95559664-95559665	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	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
Acute lymphoblastic leukemia	18458336	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:191 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:95497200-95564200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr8:95532800-95558800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr8:95537000-95558600	Strong transcription	Primary monocytes fromperipheralblood	blood
4	chr8:95541600-95563600	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr8:95541600-95563800	Weak transcription	Stomach Mucosa	stomach
6	chr8:95543200-95563200	Weak transcription	Fetal Brain Male	brain
7	chr8:95543200-95564800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr8:95543200-95564800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr8:95543600-95564000	Weak transcription	HSMMtube	muscle
10	chr8:95545200-95564000	Weak transcription	Psoas Muscle	Psoas
11	chr8:95546200-95564800	Weak transcription	Esophagus	oesophagus
12	chr8:95546400-95564000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr8:95546400-95564000	Weak transcription	Aorta	Aorta
14	chr8:95546600-95563600	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr8:95546800-95558400	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr8:95546800-95563600	Weak transcription	Brain Angular Gyrus	brain
17	chr8:95547000-95563000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr8:95547000-95564000	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr8:95547000-95565000	Weak transcription	Pancreas	Pancrea
20	chr8:95547200-95563200	Weak transcription	Gastric	stomach
21	chr8:95547400-95563200	Weak transcription	Brain Substantia Nigra	brain
22	chr8:95547400-95563600	Weak transcription	Rectal Smooth Muscle	rectum
23	chr8:95548000-95563600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr8:95548400-95563800	Weak transcription	Brain Hippocampus Middle	brain
25	chr8:95548400-95563800	Weak transcription	Small Intestine	intestine
26	chr8:95548800-95564000	Weak transcription	Colonic Mucosa	Colon
27	chr8:95549000-95558800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr8:95549000-95563000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr8:95549000-95563800	Weak transcription	HUVEC	blood vessel
30	chr8:95549000-95564000	Weak transcription	Brain Cingulate Gyrus	brain
31	chr8:95549000-95564000	Weak transcription	Brain Germinal Matrix	brain
32	chr8:95549400-95561800	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr8:95549400-95563200	Weak transcription	Ovary	ovary
34	chr8:95549400-95563400	Weak transcription	NHDF-Ad	bronchial
35	chr8:95549400-95564000	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr8:95549600-95563800	Weak transcription	Brain Anterior Caudate	brain
37	chr8:95550000-95563600	Weak transcription	NH-A	brain
38	chr8:95550400-95563200	Weak transcription	Fetal Brain Female	brain
39	chr8:95550600-95564000	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr8:95550600-95564400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr8:95551600-95564800	Weak transcription	Thymus	Thymus
42	chr8:95552000-95563600	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr8:95552200-95561000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr8:95552200-95561000	Weak transcription	Left Ventricle	heart
45	chr8:95552200-95561200	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr8:95552200-95562000	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr8:95552200-95563000	Weak transcription	Right Ventricle	heart
48	chr8:95552200-95563600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr8:95552200-95563600	Weak transcription	NHLF	lung
50	chr8:95552200-95563800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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