Variant report

Variant	esv2761421
Chromosome Location	chr8:35744018-35766773
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:2)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:33663430..33663957-chr8:35744542..35745198,2	MCF-7	breast:
2	chr8:35744346..35744912-chr8:35998590..35999359,2	MCF-7	breast:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-UNC5D-2	chr8:35750072-35750201	ENSG00000253452
2	lnc-UNC5D-2	chr8:35757901-35758022	ENSG00000253452
3	lnc-UNC5D-2	chr8:35757901-35758022	ENSG00000253452
4	lnc-UNC5D-2	chr8:35750072-35750201	ENSG00000253452

No data

Extended variants
information (count: 586 )
Associated
traits (count: 118 )

Variant overlapped rSNPs/rCNVs (count:586 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs183159758	chr8:35744020-35744021	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs149610171	chr8:35744053-35744054	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs540422775	chr8:35744112-35744113	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs186021709	chr8:35744132-35744133	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs528311342	chr8:35744221-35744222	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs190876735	chr8:35744252-35744253	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs561965838	chr8:35744313-35744314	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs530074461	chr8:35744347-35744348	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs183263931	chr8:35744398-35744399	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs570048558	chr8:35744476-35744477	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs187948489	chr8:35744496-35744497	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs552476444	chr8:35744506-35744507	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs116096817	chr8:35744509-35744510	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs192467670	chr8:35744568-35744569	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs553213011	chr8:35744570-35744571	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs574835667	chr8:35744582-35744583	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs535105212	chr8:35744588-35744589	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs556948313	chr8:35744598-35744599	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs575234268	chr8:35744606-35744607	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs545849215	chr8:35744610-35744611	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs370235296	chr8:35744614-35744615	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs79900870	chr8:35744616-35744617	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs573029159	chr8:35744638-35744639	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs540436605	chr8:35744639-35744640	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs561952480	chr8:35744659-35744660	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs529251625	chr8:35744660-35744661	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs559221564	chr8:35744704-35744705	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs541836170	chr8:35744728-35744729	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs376172624	chr8:35744762-35744763	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs577581791	chr8:35744771-35744772	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs13248585	chr8:35744781-35744782	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs13257162	chr8:35744782-35744783	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs183011473	chr8:35744799-35744800	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs530824040	chr8:35744850-35744851	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs144344710	chr8:35744895-35744896	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs545904639	chr8:35744918-35744919	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs368454280	chr8:35745001-35745002	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs570613255	chr8:35745104-35745105	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs562900254	chr8:35745114-35745115	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs528655048	chr8:35745128-35745129	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs148789010	chr8:35745183-35745184	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs568395427	chr8:35745253-35745254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs536181507	chr8:35745286-35745287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs557385194	chr8:35745289-35745290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs568807965	chr8:35745316-35745317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs17358805	chr8:35745345-35745346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs564524352	chr8:35745377-35745378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs539065822	chr8:35745381-35745382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs531808271	chr8:35745445-35745446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs530116291	chr8:35745451-35745452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:118)

Disease	PMID	Source
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Breast cancer	17393978	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Breast cancer	20837533	CNVD
Squamous cell cancer	21044232	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	22429812	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21264507	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	21386901	CNVD
Prostate cancer	21088497	CNVD
Prostate cancer	21965145	CNVD
Breast cancer	20940404	CNVD
Colorectal cancer	19359472	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Gastric cancer	17167181	CNVD
Prostate cancer	16705090	CNVD
8p-syndrome	17576883	CNVD
Colorectal cancer	16272173	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Prostate cancer	17245344	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Cancer	16751803	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	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
Acute lymphoblastic leukemia	21248843	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Seminomas	18059402	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Myxofibrosarcoma	16751306	CNVD
Immune disease	21572526	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Kallmann Syndrome 2	22470819	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Pancreatic cancer	21811587	CNVD
Multiple myeloma	16461302	CNVD
Developmental delay	21373258	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Multiple myeloma	16616336	CNVD
Disorders of sex development	21048976	CNVD
Testicular cancer	18059402	CNVD
Breast cancer	21806811	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hepatocellular carcinoma	16750200	CNVD
Bladder cancer	19088036	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	20459607	CNVD
Renal cell carcinoma	18765545	CNVD
Colorectal cancer	16912164	CNVD
Neuroticism	17667963	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Breast cancer	17001308	CNVD
Breast cancer	17157792	CNVD
Cancer	17001308	CNVD
Cancer	18840272	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Chordoma	18071362	CNVD
Urothelial carcinoma	18382360	CNVD
Ductal carcinoma	18381933	CNVD
Breast cancer	21328542	CNVD
Squamous cell cancer	20885788	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Intellectual disability	22045946	CNVD
Lung cancer	17925434	CNVD
Uveal melanoma	20484589	CNVD
Breast cancer	16608533	CNVD
Breast cancer	21364760	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21785460	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:35742200-35744200	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr8:35742600-35744800	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr8:35742600-35745000	Enhancers	Monocytes-CD14+_RO01746	blood
4	chr8:35743400-35744400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr8:35743600-35744200	Enhancers	H1 Cell Line	embryonic stem cell
6	chr8:35744200-35744600	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr8:35744200-35747400	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr8:35744400-35744600	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr8:35744400-35744800	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr8:35744600-35745000	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr8:35744600-35745200	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr8:35744800-35746000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr8:35744800-35746400	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr8:35745000-35747400	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr8:35745200-35747200	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr8:35746000-35746600	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr8:35746400-35747800	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr8:35746600-35747200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr8:35747000-35747600	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr8:35747000-35747600	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr8:35747200-35747800	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr8:35747200-35747800	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr8:35747200-35748400	Enhancers	Primary monocytes fromperipheralblood	blood
24	chr8:35747400-35747600	Enhancers	H1 Cell Line	embryonic stem cell
25	chr8:35747400-35748600	Enhancers	Monocytes-CD14+_RO01746	blood
26	chr8:35748000-35748200	Enhancers	Sigmoid Colon	Sigmoid Colon
27	chr8:35753000-35753400	Weak transcription	Primary B cells from cord blood	blood
28	chr8:35753600-35754200	Enhancers	Primary B cells from cord blood	blood
29	chr8:35754200-35754400	Flanking Active TSS	Primary B cells from cord blood	blood
30	chr8:35754200-35759000	Enhancers	Primary B cells from peripheral blood	blood
31	chr8:35754400-35754800	Enhancers	Primary B cells from cord blood	blood
32	chr8:35754400-35754800	Enhancers	GM12878-XiMat	blood
33	chr8:35754600-35757200	Enhancers	Primary monocytes fromperipheralblood	blood
34	chr8:35754800-35755000	Enhancers	Monocytes-CD14+_RO01746	blood
35	chr8:35754800-35755200	Flanking Active TSS	GM12878-XiMat	blood
36	chr8:35754800-35755400	Flanking Active TSS	Primary B cells from cord blood	blood
37	chr8:35754800-35755400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
38	chr8:35755000-35755600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
39	chr8:35755200-35755600	Enhancers	GM12878-XiMat	blood
40	chr8:35755400-35758800	Enhancers	Primary B cells from cord blood	blood
41	chr8:35755600-35756200	Enhancers	Monocytes-CD14+_RO01746	blood
42	chr8:35758800-35760000	Weak transcription	Primary B cells from cord blood	blood
43	chr8:35758800-35760400	Enhancers	Fetal Intestine Large	intestine
44	chr8:35759000-35760600	Weak transcription	Primary B cells from peripheral blood	blood
45	chr8:35759200-35759400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr8:35759400-35760400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr8:35760000-35760600	Enhancers	Pancreas	Pancrea
48	chr8:35760000-35762800	Enhancers	Primary B cells from cord blood	blood
49	chr8:35760200-35760600	Enhancers	Fetal Intestine Small	intestine
50	chr8:35760400-35761400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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