Variant report

Variant	esv3395182
Chromosome Location	chr8:87963885-87993322
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:87991692..87993604-chr8:87995666..87997990,2	K562	blood:
2	chr8:87983316..87985610-chr8:87987250..87990222,2	K562	blood:
3	chr8:87983278..87986811-chr8:87991114..87994922,3	MCF-7	breast:
4	chr8:87983316..87985610-chr8:87987250..87990222,2	K562	blood:
5	chr8:87983278..87986811-chr8:87991114..87994922,3	MCF-7	breast:
6	chr8:87988819..87990568-chr8:88009640..88012619,2	MCF-7	breast:

Extended variants
information (count: 1309 )
Associated
traits (count: 109 )

Variant overlapped rSNPs/rCNVs (count:1309 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs564771405	chr8:87963902-87963903	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs372071236	chr8:87963917-87963918	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs528808605	chr8:87963950-87963951	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs565131912	chr8:87963970-87963971	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs183304610	chr8:87964083-87964084	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs187796696	chr8:87964102-87964103	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs529735859	chr8:87964118-87964119	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs113828037	chr8:87964122-87964123	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs542351205	chr8:87964202-87964203	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs547833055	chr8:87964220-87964221	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs149276691	chr8:87964267-87964268	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs144430046	chr8:87964275-87964276	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs551982132	chr8:87964288-87964289	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs570709826	chr8:87964309-87964310	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs534652338	chr8:87964367-87964368	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs553329352	chr8:87964368-87964369	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs369337035	chr8:87964376-87964377	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs535861258	chr8:87964399-87964400	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs373332283	chr8:87964402-87964403	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs557459211	chr8:87964408-87964409	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs532258834	chr8:87964412-87964413	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs192753952	chr8:87964423-87964424	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs183655886	chr8:87964435-87964436	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs111979108	chr8:87964556-87964557	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs116018911	chr8:87964558-87964559	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs79082556	chr8:87964581-87964582	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs148411442	chr8:87964585-87964586	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs192444513	chr8:87964598-87964599	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs529602048	chr8:87964628-87964629	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs141569629	chr8:87964664-87964665	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs1404456	chr8:87964673-87964674	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs535561012	chr8:87964734-87964735	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs368677171	chr8:87964735-87964736	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs529662960	chr8:87964737-87964738	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs184698171	chr8:87964785-87964786	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs547810252	chr8:87964852-87964853	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs370977902	chr8:87964882-87964883	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs530553872	chr8:87964883-87964884	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs112708258	chr8:87964942-87964943	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs199988060	chr8:87964954-87964955	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs367687035	chr8:87964974-87964975	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs190284833	chr8:87964975-87964976	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs564791306	chr8:87964995-87964996	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs546538642	chr8:87964998-87964999	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs74567384	chr8:87965008-87965009	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs535823851	chr8:87965011-87965012	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs140197887	chr8:87965022-87965023	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs575790969	chr8:87965023-87965024	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs145514020	chr8:87965053-87965054	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs558325235	chr8:87965055-87965056	Weak transcription Enhancers	n/a	n/a	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
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
Autism	20841430	CNVD
Breast cancer	21364760	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
Colorectal cancer	21645411	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:87963800-87964400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr8:87964000-87964400	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr8:87964000-87964400	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr8:87964000-87964400	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr8:87964000-87964600	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr8:87964200-87965200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr8:87964400-87966000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr8:87964400-87966200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr8:87965200-87972000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr8:87966000-87966400	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr8:87966200-87966600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr8:87972000-87972800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
13	chr8:87973600-87978800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr8:87975400-87975600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
15	chr8:87976000-87976200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
16	chr8:87977200-87979600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr8:87977600-87979200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr8:87978000-87978400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr8:87978000-87978600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
20	chr8:87978200-87978600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr8:87978400-87978800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr8:87978600-87979400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr8:87978600-87986400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr8:87978800-87979800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr8:87978800-87980400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr8:87979200-87980200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr8:87979400-87979600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr8:87979400-87979800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr8:87979400-87979800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr8:87979400-87979800	Enhancers	Ovary	ovary
31	chr8:87979400-87980000	Enhancers	Fetal Stomach	stomach
32	chr8:87979600-87980200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr8:87979800-87981200	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr8:87980200-87980800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr8:87980200-87981000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr8:87980600-87981000	Active TSS	ES-I3 Cell Line	embryonic stem cell
37	chr8:87981000-87981200	Enhancers	ES-I3 Cell Line	embryonic stem cell
38	chr8:87981000-87981200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr8:87981200-87981600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr8:87981600-87981800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr8:87985800-87986600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr8:87986600-87990600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr8:87992200-87993200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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