Variant report

Variant	esv3692998
Chromosome Location	chr8:86861053-86869015
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:18)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:86864951..86867156-chr8:86950288..86952196,2	K562	blood:
2	chr8:86866655..86868927-chr8:86870590..86874049,3	K562	blood:
3	chr8:86867877..86870175-chr8:86957602..86960658,3	K562	blood:
4	chr8:86854974..86856986-chr8:86861959..86864314,2	MCF-7	breast:
5	chr8:86853468..86855962-chr8:86866121..86867816,2	MCF-7	breast:
6	chr8:86863160..86866224-chr8:86868226..86872946,5	K562	blood:
7	chr8:86868209..86870416-chr8:86917445..86919044,2	K562	blood:
8	chr8:86863160..86866224-chr8:86868226..86872946,5	K562	blood:
9	chr8:86864135..86865739-chr8:86867994..86869726,2	K562	blood:
10	chr8:86866810..86870482-chr8:86870568..86874255,4	K562	blood:
11	chr8:86865679..86869782-chr8:86870364..86872343,3	MCF-7	breast:
12	chr8:86847849..86857260-chr8:86866079..86880479,25	MCF-7	breast:
13	chr8:86855854..86858107-chr8:86860014..86862808,3	K562	blood:
14	chr8:86849344..86852342-chr8:86863151..86865379,2	K562	blood:
15	chr8:86855854..86858675-chr8:86858692..86862985,4	K562	blood:
16	chr8:86865438..86867152-chr8:86874296..86876870,2	MCF-7	breast:
17	chr8:86864135..86865739-chr8:86867994..86869726,2	K562	blood:
18	chr8:86855992..86858469-chr8:86859660..86861283,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-REXO1L2P-2	chr8:86866739-86866829	XLOC_007141
2	lnc-REXO1L2P-2	chr8:86864119-86865001	XLOC_007141

No data

Variant related genes	Relation type
ENSG00000253154	chromatin interactions

Extended variants
information (count: 241 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:241 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13257391	chr8:86861053-86861054	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs533437066	chr8:86861123-86861124	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs543714924	chr8:86861150-86861151	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs563494743	chr8:86861188-86861189	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs529510525	chr8:86861196-86861197	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs556738136	chr8:86861234-86861235	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs549173755	chr8:86861247-86861248	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs191907898	chr8:86861329-86861330	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs566147965	chr8:86861362-86861363	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs528605190	chr8:86861396-86861397	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs183771168	chr8:86861472-86861473	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs571707208	chr8:86861488-86861489	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs374255712	chr8:86861551-86861552	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs578083662	chr8:86861574-86861575	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs557316729	chr8:86861633-86861634	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs188354953	chr8:86861636-86861637	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs536433534	chr8:86861652-86861653	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs192987350	chr8:86861654-86861655	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs62512062	chr8:86861689-86861690	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs34541312	chr8:86861718-86861719	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs182401583	chr8:86861733-86861734	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs1905635	chr8:86861743-86861744	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs574896719	chr8:86861791-86861792	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs543680730	chr8:86861797-86861798	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs563652576	chr8:86861819-86861820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs574285200	chr8:86861863-86861864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs543182577	chr8:86861893-86861894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs531551252	chr8:86861924-86861925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs13278744	chr8:86861945-86861946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs13256805	chr8:86861958-86861959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs13256815	chr8:86861969-86861970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs542226329	chr8:86862063-86862064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs186672861	chr8:86862094-86862095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs191177014	chr8:86862105-86862106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs551911319	chr8:86862108-86862109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs565254275	chr8:86862170-86862171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs530946484	chr8:86862202-86862203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs144284661	chr8:86862291-86862292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs184765237	chr8:86862327-86862328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs551631882	chr8:86862329-86862330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs139680455	chr8:86862473-86862474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs74519466	chr8:86862568-86862569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs189198887	chr8:86862572-86862573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs374401015	chr8:86862681-86862682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs558252618	chr8:86862716-86862717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs193060412	chr8:86862753-86862754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs537431798	chr8:86862768-86862769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs538171192	chr8:86862813-86862814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs554294061	chr8:86862904-86862905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs560503142	chr8:86863012-86863013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:104)

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
Acute lymphoblastic leukemia	22237106	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
Acute monocytic leukemia	16498392	CNVD
Autism	20841430	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:239 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:86853600-86864200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr8:86855600-86875600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr8:86856000-86870400	Weak transcription	NHEK	skin
4	chr8:86857000-86864000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr8:86859200-86868400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr8:86859600-86864200	Weak transcription	Stomach Mucosa	stomach
7	chr8:86860200-86861400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr8:86860200-86861600	Enhancers	Primary hematopoietic stem cells	blood
9	chr8:86860200-86861600	Enhancers	Fetal Lung	lung
10	chr8:86860600-86861200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr8:86860600-86861800	Enhancers	Monocytes-CD14+_RO01746	blood
12	chr8:86860800-86861400	Enhancers	Brain Hippocampus Middle	brain
13	chr8:86860800-86861600	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr8:86860800-86861600	Enhancers	Primary neutrophils fromperipheralblood	blood
15	chr8:86860800-86861600	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr8:86860800-86861600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr8:86860800-86861600	Enhancers	K562	blood
18	chr8:86860800-86861800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr8:86860800-86861800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr8:86860800-86861800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr8:86861000-86861200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
22	chr8:86861000-86861400	Weak transcription	Brain Substantia Nigra	brain
23	chr8:86861000-86861600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr8:86861000-86861600	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr8:86861000-86861600	Enhancers	Primary B cells from peripheral blood	blood
26	chr8:86861000-86861600	Enhancers	Cortex derived primary cultured neurospheres	brain
27	chr8:86861000-86861600	Enhancers	Brain Anterior Caudate	brain
28	chr8:86861000-86863200	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr8:86861200-86861600	Enhancers	Adipose Nuclei	Adipose
30	chr8:86861200-86861600	Enhancers	Fetal Brain Female	brain
31	chr8:86861200-86868400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr8:86861200-86868600	Weak transcription	Aorta	Aorta
33	chr8:86861400-86861600	Enhancers	Brain Substantia Nigra	brain
34	chr8:86861400-86863400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr8:86861600-86863400	Weak transcription	Fetal Lung	lung
36	chr8:86861600-86863800	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr8:86861600-86864000	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr8:86861600-86864000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr8:86861600-86864200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr8:86861600-86864200	Weak transcription	Primary neutrophils fromperipheralblood	blood
41	chr8:86861600-86864200	Weak transcription	K562	blood
42	chr8:86861600-86865600	Weak transcription	Primary monocytes fromperipheralblood	blood
43	chr8:86861600-86866000	Weak transcription	Adipose Nuclei	Adipose
44	chr8:86861600-86868200	Weak transcription	Brain Substantia Nigra	brain
45	chr8:86861600-86868400	Weak transcription	Fetal Brain Female	brain
46	chr8:86861800-86863600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr8:86861800-86868400	Weak transcription	Monocytes-CD14+_RO01746	blood
48	chr8:86862000-86864000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
49	chr8:86863000-86863600	Weak transcription	Placenta Amnion	Placenta Amnion
50	chr8:86863200-86864800	Enhancers	HUES48 Cell Line	embryonic stem cell

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