Variant report

Variant	nsv523071
Chromosome Location	chr8:61241862-61273565
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:31)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:31 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:61191611..61196485-chr8:61259734..61262031,5	K562	blood:
2	chr8:61251384..61253665-chr8:61258867..61261259,2	K562	blood:
3	chr8:61259980..61263184-chr8:61267664..61270239,3	K562	blood:
4	chr8:61266542..61270541-chr8:61272293..61274774,4	K562	blood:
5	chr8:61266542..61270541-chr8:61272293..61274774,4	K562	blood:
6	chr8:61260960..61263184-chr8:61267664..61270239,2	K562	blood:
7	chr8:61179873..61181465-chr8:61258527..61261260,2	K562	blood:
8	chr8:61185497..61188035-chr8:61257935..61259723,3	K562	blood:
9	chr8:61245428..61247239-chr8:61256258..61259423,3	K562	blood:
10	chr8:61241969..61244711-chr8:61246606..61250042,3	K562	blood:
11	chr8:61231129..61232873-chr8:61242746..61245101,2	MCF-7	breast:
12	chr8:61260960..61263184-chr8:61267664..61270239,2	K562	blood:
13	chr8:61241969..61244711-chr8:61246606..61250042,3	K562	blood:
14	chr8:61245428..61247239-chr8:61256258..61259423,3	K562	blood:
15	chr8:61256354..61259948-chr8:61262933..61264606,3	K562	blood:
16	chr8:61190238..61199146-chr8:61241608..61248794,15	K562	blood:
17	chr8:61241908..61243740-chr8:61270614..61272294,2	K562	blood:
18	chr8:61191529..61193995-chr8:61243939..61245701,2	K562	blood:
19	chr8:61241908..61243740-chr8:61270614..61272294,2	K562	blood:
20	chr8:61178145..61180304-chr8:61249172..61252086,2	K562	blood:
21	chr8:61189033..61190651-chr8:61266545..61268569,2	K562	blood:
22	chr8:61236912..61239997-chr8:61241779..61243465,3	K562	blood:
23	chr8:61192508..61194247-chr8:61259111..61261374,2	MCF-7	breast:
24	chr8:61190830..61195522-chr8:61256061..61261664,6	K562	blood:
25	chr8:61193398..61195148-chr8:61271276..61273484,2	K562	blood:
26	chr8:61251384..61253665-chr8:61258867..61261259,2	K562	blood:
27	chr8:61192672..61195405-chr8:61273265..61277207,5	K562	blood:
28	chr8:61259980..61263184-chr8:61267664..61270239,3	K562	blood:
29	chr8:61256354..61259948-chr8:61262933..61264606,3	K562	blood:
30	chr8:61191127..61193957-chr8:61268108..61271053,2	K562	blood:
31	chr8:61188816..61193463-chr8:61245871..61250410,5	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CA8-1	chr8:61245498-61245535	XLOC_007092

No data

Variant related genes	Relation type
ENSG00000178538	chromatin interactions

Extended variants
information (count: 904 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:904 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1893275	chr8:61241862-61241863	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs187337036	chr8:61241907-61241908	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs1893276	chr8:61241929-61241930	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs192074877	chr8:61241943-61241944	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs545316685	chr8:61241953-61241954	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs560441381	chr8:61241992-61241993	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs527872945	chr8:61242002-61242003	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs185426249	chr8:61242018-61242019	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs568100442	chr8:61242064-61242065	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs528987309	chr8:61242072-61242073	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs550560096	chr8:61242190-61242191	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs115761650	chr8:61242223-61242224	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs539465252	chr8:61242247-61242248	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs190055347	chr8:61242284-61242285	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs60141613	chr8:61242285-61242286	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs572128366	chr8:61242289-61242290	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs112966697	chr8:61242308-61242309	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs7835411	chr8:61242330-61242331	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs541091899	chr8:61242357-61242358	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs193226532	chr8:61242369-61242370	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs75114357	chr8:61242455-61242456	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs59027406	chr8:61242516-61242517	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs577593137	chr8:61242523-61242524	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs577578654	chr8:61242565-61242566	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs578084238	chr8:61242583-61242584	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs545034754	chr8:61242607-61242608	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs543243428	chr8:61242626-61242627	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs538584405	chr8:61242642-61242643	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs563534709	chr8:61242647-61242648	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs572651738	chr8:61242654-61242655	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs573832189	chr8:61242674-61242675	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs543164855	chr8:61242695-61242696	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs542967917	chr8:61242710-61242711	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs373138544	chr8:61242743-61242744	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs370916622	chr8:61242748-61242749	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs375532930	chr8:61242757-61242758	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs562602462	chr8:61242827-61242828	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs78263339	chr8:61242894-61242895	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs370180380	chr8:61242904-61242905	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs73250018	chr8:61242923-61242924	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs566715185	chr8:61243019-61243020	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs558042029	chr8:61243057-61243058	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs533855828	chr8:61243102-61243103	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs549129442	chr8:61243129-61243130	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs567374270	chr8:61243191-61243192	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs76932766	chr8:61243194-61243195	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs573194075	chr8:61243258-61243259	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs556223931	chr8:61243340-61243341	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs7011237	chr8:61243357-61243358	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs185576943	chr8:61243374-61243375	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:97)

Disease	PMID	Source
Cancer	16751803	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
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
Hodgkin''s lymphoma	17606441	CNVD
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Disorders of sex development	21048976	CNVD
Testicular cancer	18059402	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Salivary gland tumor	18059337	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
primary effusion lymphomas	17116491	CNVD
Esophageal cancer	20955586	CNVD
Multiple myeloma	16461302	CNVD
abnormal development	18461090	CNVD
Cancer	20164920	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
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
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16461572	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
Colorectal cancer	16272173	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Colorectal cancer	21645411	CNVD
Melanoma	22183965	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
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
Schizophrenia	23813976	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:61238200-61242200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr8:61238600-61242400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr8:61240000-61245200	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr8:61240600-61242200	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr8:61240600-61242200	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr8:61240600-61242200	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr8:61240600-61242800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr8:61241000-61242400	Enhancers	K562	blood
9	chr8:61241000-61242800	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr8:61241200-61242600	Weak transcription	Primary hematopoietic stem cells	blood
11	chr8:61241400-61242600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr8:61242200-61244000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr8:61242400-61243600	Flanking Active TSS	K562	blood
14	chr8:61242400-61244000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr8:61242600-61244000	Enhancers	Primary B cells from peripheral blood	blood
16	chr8:61242600-61244400	Enhancers	Primary hematopoietic stem cells	blood
17	chr8:61242600-61246800	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr8:61242600-61247400	Enhancers	Primary B cells from cord blood	blood
19	chr8:61243600-61244200	Enhancers	K562	blood
20	chr8:61244000-61245200	Weak transcription	Primary B cells from peripheral blood	blood
21	chr8:61244000-61245200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr8:61244000-61245400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr8:61244200-61244600	Weak transcription	K562	blood
24	chr8:61244200-61247800	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr8:61244400-61244800	Weak transcription	Primary hematopoietic stem cells	blood
26	chr8:61244600-61246600	Enhancers	K562	blood
27	chr8:61244800-61246800	Enhancers	Primary hematopoietic stem cells	blood
28	chr8:61245000-61245200	Enhancers	Monocytes-CD14+_RO01746	blood
29	chr8:61245200-61246600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr8:61245200-61246800	Enhancers	Primary B cells from peripheral blood	blood
31	chr8:61245200-61246800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
32	chr8:61245400-61246200	Enhancers	Primary neutrophils fromperipheralblood	blood
33	chr8:61245400-61246600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr8:61245400-61250200	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr8:61246800-61247600	Enhancers	Monocytes-CD14+_RO01746	blood
36	chr8:61247600-61249800	Weak transcription	Monocytes-CD14+_RO01746	blood
37	chr8:61249800-61250200	Enhancers	Duodenum Mucosa	Duodenum
38	chr8:61249800-61250400	Enhancers	Monocytes-CD14+_RO01746	blood
39	chr8:61250000-61250400	Enhancers	Sigmoid Colon	Sigmoid Colon
40	chr8:61250200-61251400	Enhancers	Pancreatic Islets	Pancreatic Islet
41	chr8:61251200-61251600	Enhancers	HMEC	breast
42	chr8:61257600-61257800	Enhancers	Monocytes-CD14+_RO01746	blood
43	chr8:61257800-61258600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
44	chr8:61257800-61262400	Enhancers	Primary monocytes fromperipheralblood	blood
45	chr8:61258600-61260200	Enhancers	Monocytes-CD14+_RO01746	blood
46	chr8:61259200-61259400	Enhancers	K562	blood
47	chr8:61259200-61259600	Enhancers	Fetal Stomach	stomach
48	chr8:61259400-61260000	Weak transcription	K562	blood
49	chr8:61259600-61260000	Weak transcription	Fetal Stomach	stomach
50	chr8:61260000-61260600	Enhancers	Fetal Stomach	stomach

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