Variant report

Variant	esv3420651
Chromosome Location	chr8:91006176-91007874
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:90860198..90860726-chr8:91007392..91008040,2	K562	blood:
2	chr8:90770153..90772840-chr8:91007393..91009503,2	K562	blood:
3	chr8:90730221..90731273-chr8:91007539..91008842,5	MCF-7	breast:
4	chr8:91007556..91008058-chr8:91583037..91583877,2	MCF-7	breast:
5	chr8:90995472..90998496-chr8:91005962..91009208,4	MCF-7	breast:
6	chr8:90993740..90998676-chr8:91006200..91009964,9	K562	blood:
7	chr8:90996313..90997115-chr8:91007670..91008443,3	MCF-7	breast:
8	chr8:90993798..90996791-chr8:91007564..91009611,2	MCF-7	breast:
9	chr8:90860238..90861141-chr8:91007229..91008461,8	MCF-7	breast:
10	chr8:91004660..91006656-chr8:91014617..91016770,2	MCF-7	breast:
11	chr8:90998510..91002003-chr8:91006940..91009288,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000104320	chromatin interactions

Extended variants
information (count: 111 )
Associated
traits (count: 107 )

Variant overlapped rSNPs/rCNVs (count:111 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13256740	chr8:91006180-91006181	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs557293876	chr8:91006201-91006202	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs150756494	chr8:91006202-91006203	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs191359394	chr8:91006266-91006267	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs559077362	chr8:91006294-91006295	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs71528733	chr8:91006333-91006334	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs183236106	chr8:91006347-91006348	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs376575377	chr8:91006349-91006350	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs574937411	chr8:91006357-91006358	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs187488102	chr8:91006374-91006375	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs190407701	chr8:91006375-91006376	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs530412066	chr8:91006381-91006382	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs114431998	chr8:91006445-91006446	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs563950179	chr8:91006469-91006470	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs1235372	chr8:91006473-91006474	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs1312187	chr8:91006496-91006497	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs67206197	chr8:91006499-91006500	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs376989514	chr8:91006507-91006508	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs371600127	chr8:91006508-91006509	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs10104331	chr8:91006515-91006516	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs71510457	chr8:91006521-91006522	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs71510458	chr8:91006548-91006549	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs1312188	chr8:91006552-91006553	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs187616230	chr8:91006571-91006572	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs191322735	chr8:91006578-91006579	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs28876120	chr8:91006580-91006581	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs28842880	chr8:91006587-91006588	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs558122539	chr8:91006588-91006589	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs1312190	chr8:91006594-91006595	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs1312191	chr8:91006610-91006611	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs71510460	chr8:91006618-91006619	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs546385193	chr8:91006630-91006631	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs570339559	chr8:91006633-91006634	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs1312192	chr8:91006640-91006641	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs372827811	chr8:91006646-91006647	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs372807788	chr8:91006650-91006651	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs529146480	chr8:91006657-91006658	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs13259360	chr8:91006659-91006660	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs1312193	chr8:91006667-91006668	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs377179098	chr8:91006670-91006671	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs71514103	chr8:91006673-91006674	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs375323935	chr8:91006676-91006677	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs184122804	chr8:91006679-91006680	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs368977944	chr8:91006686-91006687	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs74212996	chr8:91006690-91006691	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs369607009	chr8:91006692-91006693	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs373221329	chr8:91006697-91006698	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs373225471	chr8:91006700-91006701	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs377590028	chr8:91006702-91006703	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs372765846	chr8:91006705-91006706	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:107)

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
Colorectal cancer	21645411	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:91000000-91012400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:91004600-91006400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr8:91004800-91007400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr8:91005200-91006200	Weak transcription	Fetal Intestine Small	intestine
5	chr8:91005200-91007400	Weak transcription	K562	blood
6	chr8:91005600-91006200	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr8:91005600-91006200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr8:91005800-91006400	Enhancers	Fetal Intestine Large	intestine
9	chr8:91006000-91006200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr8:91006000-91006200	Enhancers	HepG2	liver
11	chr8:91006000-91007600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr8:91006000-91007600	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr8:91006000-91007600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr8:91006000-91007600	Weak transcription	A549	lung
15	chr8:91006000-91007800	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr8:91006000-91012800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr8:91006200-91006400	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr8:91006200-91007400	Weak transcription	HepG2	liver
19	chr8:91006200-91007600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr8:91006200-91012400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr8:91006400-91007400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr8:91006400-91007600	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr8:91006600-91007400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr8:91007400-91007600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr8:91007400-91007600	Enhancers	K562	blood
26	chr8:91007400-91007800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr8:91007400-91007800	Active TSS	HepG2	liver
28	chr8:91007600-91007800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr8:91007600-91007800	Flanking Active TSS	A549	lung
30	chr8:91007600-91008000	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr8:91007600-91008000	Flanking Active TSS	ES-WA7 Cell Line	embryonic stem cell
32	chr8:91007600-91008000	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr8:91007600-91008000	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr8:91007600-91008000	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr8:91007600-91008000	Flanking Active TSS	K562	blood
36	chr8:91007600-91013200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr8:91007800-91008000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr8:91007800-91008000	Active TSS	A549	lung
39	chr8:91007800-91008000	Flanking Active TSS	HepG2	liver
40	chr8:91007800-91008200	Enhancers	HUES64 Cell Line	embryonic stem cell

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