Variant report

Variant	esv2752269
Chromosome Location	chr8:89887658-89974384
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr8:89892387..89896738-chr8:89897046..89901552,4	MCF-7	breast:
2	chr8:89931260..89931962-chr8:90629037..90630035,2	MCF-7	breast:
3	chr8:89927938..89930216-chr8:89935264..89937935,2	K562	blood:
4	chr8:89896479..89897988-chr8:89898456..89900553,2	MCF-7	breast:
5	chr8:89927938..89930216-chr8:89935264..89937935,2	K562	blood:
6	chr8:89896479..89897988-chr8:89898456..89900553,2	MCF-7	breast:
7	chr8:89892387..89896738-chr8:89897046..89901552,4	MCF-7	breast:
8	chr8:89930914..89931750-chr8:90701140..90701846,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000251136	chromatin interactions

Extended variants
information (count: 2174 )
Associated
traits (count: 109 )

Variant overlapped rSNPs/rCNVs (count:2174 , 50 per page) page: 1 2 3 4 5 6 7 ... 44

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1319026	chr8:89887658-89887659	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs372230766	chr8:89887664-89887665	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs7844202	chr8:89887683-89887684	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs543642683	chr8:89887699-89887700	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs375570017	chr8:89887706-89887707	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs532302097	chr8:89887708-89887709	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs183380121	chr8:89887783-89887784	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs559189286	chr8:89887796-89887797	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs529716651	chr8:89887822-89887823	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs547829432	chr8:89887833-89887834	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs185012189	chr8:89887836-89887837	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs71526980	chr8:89887857-89887858	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs552829864	chr8:89887896-89887897	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs571038859	chr8:89887954-89887955	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs150472187	chr8:89887970-89887971	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs189570056	chr8:89887977-89887978	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs117154863	chr8:89887987-89887988	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs540523267	chr8:89888011-89888012	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs575137728	chr8:89888013-89888014	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs138295992	chr8:89888062-89888063	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs369354304	chr8:89888095-89888096	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs557067852	chr8:89888140-89888141	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs575740112	chr8:89888171-89888172	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs564110238	chr8:89888198-89888199	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs545959956	chr8:89888231-89888232	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs564773788	chr8:89888265-89888266	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs115568008	chr8:89888290-89888291	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs371769137	chr8:89888309-89888310	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs6981404	chr8:89888324-89888325	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs559226857	chr8:89888325-89888326	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs146099392	chr8:89888370-89888371	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs546598000	chr8:89888426-89888427	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs548210702	chr8:89888434-89888435	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs563137294	chr8:89888461-89888462	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs368900612	chr8:89888477-89888478	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs182644876	chr8:89888496-89888497	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs373110696	chr8:89888500-89888501	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs552315115	chr8:89888504-89888505	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs568296627	chr8:89888544-89888545	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs2454331	chr8:89888548-89888549	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs188064132	chr8:89888556-89888557	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs192791204	chr8:89888614-89888615	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs140067719	chr8:89888638-89888639	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs80279897	chr8:89888649-89888650	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs557353568	chr8:89888665-89888666	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs575533334	chr8:89888670-89888671	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs539787459	chr8:89888699-89888700	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs557853431	chr8:89888720-89888721	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs562572127	chr8:89888723-89888724	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs7006924	chr8:89888775-89888776	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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
Autism	22495311	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
Esophageal cancer	20955586	CNVD
Multiple myeloma	16461302	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
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
Breast cancer	20409316	CNVD
Acute myeloid leukemia	19651601	CNVD
head and neck squamous cell carcinoma	19451471	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17170743	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Breast cancer	21611746	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Schizophrenia	23813976	CNVD
Bipolar disorder	19114987	CNVD
Renal cell carcinoma	21215367	CNVD

Chromatin state (count:147 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:89885400-89888000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr8:89887000-89889200	Enhancers	Fetal Heart	heart
3	chr8:89887800-89889400	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr8:89888000-89888400	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr8:89888000-89888800	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr8:89888000-89889000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
7	chr8:89888000-89889200	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr8:89888000-89889400	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr8:89888200-89889000	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr8:89888200-89889200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr8:89888400-89888800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
12	chr8:89888800-89889200	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr8:89888800-89894200	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr8:89889000-89893800	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr8:89889000-89894000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr8:89889200-89894000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr8:89889200-89894200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr8:89889200-89894200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr8:89889400-89894000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr8:89889400-89894000	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr8:89893800-89896800	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr8:89894000-89894800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
23	chr8:89894000-89895600	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr8:89894000-89896000	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr8:89894000-89896200	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr8:89894000-89896200	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr8:89894200-89894400	Enhancers	H9 Cell Line	embryonic stem cell
28	chr8:89894200-89895800	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr8:89894200-89896200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr8:89894200-89896800	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr8:89895200-89895400	Enhancers	H1 Cell Line	embryonic stem cell
32	chr8:89895400-89896000	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr8:89895600-89895800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
34	chr8:89895600-89896200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr8:89895600-89896400	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chr8:89895800-89896000	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr8:89895800-89896000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
38	chr8:89895800-89896200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr8:89896000-89896200	Enhancers	H1 Cell Line	embryonic stem cell
40	chr8:89896000-89896200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
41	chr8:89896000-89896200	Active TSS	iPS-20b Cell Line	embryonic stem cell
42	chr8:89896000-89896600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr8:89896200-89896800	Enhancers	HUES48 Cell Line	embryonic stem cell
44	chr8:89896200-89898000	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr8:89896600-89896800	Enhancers	iPS-15b Cell Line	embryonic stem cell
46	chr8:89897400-89898200	Weak transcription	H9 Cell Line	embryonic stem cell
47	chr8:89898000-89898800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
48	chr8:89905000-89905600	Enhancers	Left Ventricle	heart
49	chr8:89905000-89906600	Enhancers	Fetal Heart	heart
50	chr8:89905600-89906600	Weak transcription	Left Ventricle	heart

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