Variant report

Variant	nsv1050280
Chromosome Location	chr9:79133978-79160451
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:2)
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	chr9:79073601..79075979-chr9:79140675..79142601,2	MCF-7	breast:
2	chr9:79139154..79140841-chr9:79144087..79146483,2	MCF-7	breast:
3	chr9:79073112..79077050-chr9:79144085..79148483,6	MCF-7	breast:
4	chr9:79059311..79060843-chr9:79133319..79135511,2	MCF-7	breast:
5	chr9:79136748..79138792-chr9:79146274..79147861,2	MCF-7	breast:
6	chr9:79141616..79143870-chr9:79144001..79146355,2	MCF-7	breast:
7	chr9:79072682..79077481-chr9:79155712..79161702,6	MCF-7	breast:
8	chr9:79118137..79121617-chr9:79133678..79136692,4	MCF-7	breast:
9	chr9:79135787..79137939-chr9:79139543..79141153,2	MCF-7	breast:
10	chr9:79073735..79076536-chr9:79134165..79136426,5	MCF-7	breast:
11	chr9:79145810..79147846-chr9:79148207..79150771,2	MCF-7	breast:
12	chr9:79091609..79094063-chr9:79133864..79136159,2	MCF-7	breast:
13	chr9:79141157..79143063-chr9:79143309..79146258,3	MCF-7	breast:
14	chr9:79134746..79136889-chr9:79256489..79258709,2	MCF-7	breast:
15	chr9:79071953..79074920-chr9:79149530..79152206,2	MCF-7	breast:
16	chr9:79149027..79151357-chr9:79152128..79154578,2	MCF-7	breast:
17	chr9:79139489..79141014-chr9:79144768..79146907,2	MCF-7	breast:
18	chr9:79145810..79147846-chr9:79148207..79150771,2	MCF-7	breast:
19	chr9:79149027..79151357-chr9:79152128..79154578,2	MCF-7	breast:
20	chr9:79141616..79143870-chr9:79144001..79146355,2	MCF-7	breast:
21	chr9:79139489..79141014-chr9:79144768..79146907,2	MCF-7	breast:
22	chr9:79135787..79137939-chr9:79139543..79141153,2	MCF-7	breast:
23	chr9:79139154..79140841-chr9:79144087..79146483,2	MCF-7	breast:
24	chr9:79112993..79114512-chr9:79134842..79136491,2	MCF-7	breast:
25	chr9:79007804..79010081-chr9:79141530..79143616,2	MCF-7	breast:
26	chr9:79134186..79136452-chr9:79146465..79148525,2	MCF-7	breast:
27	chr9:79074092..79076244-chr9:79145228..79147118,2	MCF-7	breast:
28	chr9:79141157..79143063-chr9:79143309..79146258,3	MCF-7	breast:
29	chr9:79136748..79138792-chr9:79146274..79147861,2	MCF-7	breast:
30	chr9:79072653..79077214-chr9:79131036..79138388,12	MCF-7	breast:
31	chr9:79134186..79136452-chr9:79146465..79148525,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GCNT1-1	chr9:79142732-79142811	XLOC_007414
2	lnc-GCNT1-1	chr9:79142732-79143060	NONHSAT131953

No data

Variant related genes	Relation type
ENSG00000187210	chromatin interactions
ENSG00000135002	chromatin interactions

Extended variants
information (count: 1074 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:1074 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs189565350	chr9:79133996-79133997	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs138226835	chr9:79134030-79134031	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs149524230	chr9:79134031-79134032	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs564625507	chr9:79134087-79134088	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs533329585	chr9:79134107-79134108	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs585575	chr9:79134141-79134142	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs537229	chr9:79134180-79134181	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs144140605	chr9:79134186-79134187	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs549107573	chr9:79134194-79134195	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs568671327	chr9:79134195-79134196	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs531409945	chr9:79134197-79134198	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs182146587	chr9:79134229-79134230	Weak transcription Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs571468699	chr9:79134277-79134278	Weak transcription Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs77586433	chr9:79134283-79134284	Weak transcription Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs148701783	chr9:79134422-79134423	Weak transcription Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs539188	chr9:79134434-79134435	Weak transcription Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs536340156	chr9:79134446-79134447	Weak transcription Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs556300255	chr9:79134451-79134452	Weak transcription Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs117703211	chr9:79134500-79134501	Weak transcription Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs186684862	chr9:79134501-79134502	Weak transcription Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs368601750	chr9:79134512-79134513	Weak transcription Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs538076662	chr9:79134538-79134539	Weak transcription Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs112749510	chr9:79134617-79134618	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs190747128	chr9:79134645-79134646	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs181791973	chr9:79134674-79134675	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs560105109	chr9:79134688-79134689	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs578161824	chr9:79134706-79134707	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs573708163	chr9:79134770-79134771	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs141251267	chr9:79134772-79134773	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs562666032	chr9:79134848-79134849	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs185138799	chr9:79134855-79134856	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs12343728	chr9:79134857-79134858	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs189547057	chr9:79134879-79134880	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs565118619	chr9:79134915-79134916	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs543677	chr9:79134925-79134926	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs182528090	chr9:79134940-79134941	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs186744072	chr9:79134974-79134975	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs536254251	chr9:79135000-79135001	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs549871869	chr9:79135024-79135025	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs191135907	chr9:79135028-79135029	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs538759133	chr9:79135193-79135194	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs111414485	chr9:79135209-79135210	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs578157310	chr9:79135218-79135219	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs534182835	chr9:79135239-79135240	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs150777109	chr9:79135242-79135243	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs573671559	chr9:79135264-79135265	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs542627062	chr9:79135295-79135296	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs183786668	chr9:79135324-79135325	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs576435496	chr9:79135343-79135344	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs139524019	chr9:79135374-79135375	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Breast cancer	17133270	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Medulloblastoma	21979893	CNVD
microdeletion syndrome	16199537	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Urothelial carcinoma	21177765	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Myelofibrosis	22110671	CNVD
lymphocytic leukemia	21291569	CNVD
Leukemia	17361228	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Glioblastoma	16823260	CNVD
Leukemia	18688285	CNVD
Non-small cell lung cancer	21044232	CNVD
Brain cancer	20823417	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Renal cell carcinoma	19461508	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Heart disease	21282601	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	21251322	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	20729466	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Oral cancer	21386901	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Bipolar disorder	18458673	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Intellectual disability	22102821	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Wilms tumour	21544195	CNVD
Melanoma	17363583	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:317 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:79093400-79142800	Weak transcription	Fetal Stomach	stomach
2	chr9:79118600-79134200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr9:79118800-79136400	Weak transcription	Gastric	stomach
4	chr9:79118800-79145800	Weak transcription	Primary B cells from peripheral blood	blood
5	chr9:79119200-79134000	Weak transcription	Fetal Intestine Small	intestine
6	chr9:79120400-79134000	Weak transcription	Fetal Intestine Large	intestine
7	chr9:79120400-79145200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr9:79126400-79140800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr9:79128200-79134000	Weak transcription	HSMMtube	muscle
10	chr9:79128400-79141000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr9:79128600-79135800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr9:79129200-79152000	Weak transcription	Duodenum Mucosa	Duodenum
13	chr9:79131000-79136800	Strong transcription	Osteobl	bone
14	chr9:79131600-79134000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr9:79131600-79141000	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr9:79132200-79134000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr9:79132200-79134800	Strong transcription	Monocytes-CD14+_RO01746	blood
18	chr9:79132200-79142600	Weak transcription	NHDF-Ad	bronchial
19	chr9:79132400-79140800	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr9:79132400-79148000	Weak transcription	Primary hematopoietic stem cells	blood
21	chr9:79132600-79134200	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr9:79132800-79134000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr9:79132800-79134000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr9:79132800-79135800	Weak transcription	HSMM	muscle
25	chr9:79132800-79136000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr9:79132800-79136400	Weak transcription	Primary B cells from cord blood	blood
27	chr9:79133400-79134200	Enhancers	HMEC	breast
28	chr9:79133600-79134600	Enhancers	NHEK	skin
29	chr9:79133800-79135800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr9:79134000-79134400	Enhancers	Colonic Mucosa	Colon
31	chr9:79134000-79134800	Enhancers	Breast Myoepithelial Primary Cells	Breast
32	chr9:79134000-79134800	Enhancers	Fetal Intestine Large	intestine
33	chr9:79134000-79134800	Enhancers	Fetal Intestine Small	intestine
34	chr9:79134000-79134800	Enhancers	Stomach Mucosa	stomach
35	chr9:79134000-79134800	Enhancers	HSMMtube	muscle
36	chr9:79134000-79137600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr9:79134200-79134600	Enhancers	Muscle Satellite Cultured Cells	--
38	chr9:79134200-79134600	Enhancers	Pancreas	Pancrea
39	chr9:79134200-79134600	Enhancers	Placenta Amnion	Placenta Amnion
40	chr9:79134200-79134600	Enhancers	HepG2	liver
41	chr9:79134200-79134600	Flanking Active TSS	HMEC	breast
42	chr9:79134200-79135000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr9:79134200-79135000	Enhancers	NH-A	brain
44	chr9:79134400-79134600	Enhancers	Sigmoid Colon	Sigmoid Colon
45	chr9:79134400-79134800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr9:79134400-79150800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr9:79134600-79135800	Weak transcription	NHEK	skin
48	chr9:79134600-79136200	Weak transcription	Placenta Amnion	Placenta Amnion
49	chr9:79134600-79136800	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr9:79134600-79137600	Enhancers	HMEC	breast

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