Variant report

Variant	nsv973848
Chromosome Location	chr9:86241130-86260149
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:38)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:38 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:86256742..86260226-chr9:86261341..86265382,4	MCF-7	breast:
2	chr9:86238599..86242233-chr9:86242446..86245459,4	K562	blood:
3	chr9:86247178..86252278-chr9:86254565..86260519,7	MCF-7	breast:
4	chr9:86235832..86238192-chr9:86245437..86248685,3	K562	blood:
5	chr9:86243566..86245560-chr9:86258572..86260267,2	MCF-7	breast:
6	chr9:86245520..86247823-chr9:86535695..86537836,2	MCF-7	breast:
7	chr9:86236616..86242493-chr9:86533666..86537484,7	MCF-7	breast:
8	chr9:86248664..86251363-chr9:86251483..86253533,2	MCF-7	breast:
9	chr9:86257425..86259233-chr9:86266050..86268167,2	MCF-7	breast:
10	chr9:86244611..86247023-chr9:86320465..86322962,2	MCF-7	breast:
11	chr9:86241062..86243617-chr9:86248330..86250163,2	K562	blood:
12	chr9:86248086..86250305-chr9:86262008..86265514,3	MCF-7	breast:
13	chr9:86236003..86240617-chr9:86259278..86264102,9	MCF-7	breast:
14	chr9:86248664..86251363-chr9:86251483..86253533,2	MCF-7	breast:
15	chr9:86236830..86238714-chr9:86253214..86255307,2	K562	blood:
16	chr9:86243566..86245560-chr9:86258572..86260267,2	MCF-7	breast:
17	chr9:86252769..86254326-chr9:86257407..86258944,2	K562	blood:
18	chr9:86251932..86254568-chr9:86256964..86260409,3	K562	blood:
19	chr9:86244110..86246714-chr9:86535414..86538304,2	K562	blood:
20	chr9:86247034..86248660-chr9:86250680..86252326,2	K562	blood:
21	chr9:86229963..86232786-chr9:86243072..86244741,2	K562	blood:
22	chr9:86251432..86253303-chr9:86255236..86258131,2	MCF-7	breast:
23	chr9:86236280..86241962-chr9:86320992..86325340,9	MCF-7	breast:
24	chr9:86241062..86243617-chr9:86248330..86250163,2	K562	blood:
25	chr9:86254977..86260062-chr9:86262570..86265778,5	MCF-7	breast:
26	chr9:86249075..86251124-chr9:86419195..86422058,2	K562	blood:
27	chr9:86210303..86212582-chr9:86243491..86245294,2	MCF-7	breast:
28	chr9:86251432..86253303-chr9:86255236..86258131,2	MCF-7	breast:
29	chr9:86249957..86252559-chr9:86321303..86324119,2	MCF-7	breast:
30	chr9:86255011..86257353-chr9:86257547..86260085,2	MCF-7	breast:
31	chr9:86247178..86252278-chr9:86254565..86260519,7	MCF-7	breast:
32	chr9:86247034..86248660-chr9:86250680..86252326,2	K562	blood:
33	chr9:86252769..86254326-chr9:86257407..86258944,2	K562	blood:
34	chr9:86238599..86242233-chr9:86242446..86245459,4	K562	blood:
35	chr9:86243220..86245781-chr9:86323093..86324779,2	MCF-7	breast:
36	chr9:86255011..86257353-chr9:86257547..86260085,2	MCF-7	breast:
37	chr9:86230729..86232939-chr9:86244046..86245933,2	K562	blood:
38	chr9:86251932..86254568-chr9:86256964..86260409,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000165115	chromatin interactions
ENSG00000254473	chromatin interactions
ENSG00000148057	chromatin interactions
ENSG00000135018	chromatin interactions
ENSG00000199483	chromatin interactions

Extended variants
information (count: 684 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:684 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs532187243	chr9:86241132-86241133	Weak transcription Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs543958562	chr9:86241134-86241135	Weak transcription Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs562480686	chr9:86241137-86241138	Weak transcription Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs529919784	chr9:86241148-86241149	Weak transcription Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs548194153	chr9:86241188-86241189	Weak transcription Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs566366126	chr9:86241190-86241191	Weak transcription Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs527245969	chr9:86241212-86241213	Weak transcription Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs149040233	chr9:86241222-86241223	Weak transcription Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs181910974	chr9:86241234-86241235	Weak transcription Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs542951995	chr9:86241287-86241288	Weak transcription Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs562054738	chr9:86241301-86241302	Weak transcription Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs557580961	chr9:86241303-86241304	Weak transcription Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs557839923	chr9:86241325-86241326	Weak transcription Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs569606156	chr9:86241339-86241340	Weak transcription Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs12379187	chr9:86241371-86241372	Weak transcription Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs41282413	chr9:86241390-86241391	Weak transcription Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs141330202	chr9:86241392-86241393	Weak transcription Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs75295803	chr9:86241407-86241408	Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs562266854	chr9:86241449-86241450	Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs558632706	chr9:86241476-86241477	Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs576915181	chr9:86241477-86241478	Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs2780977	chr9:86241489-86241490	Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs186880530	chr9:86241491-86241492	Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs373693571	chr9:86241521-86241522	Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs541772831	chr9:86241534-86241535	Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs377236774	chr9:86241575-86241576	Weak transcription Strong transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs527291236	chr9:86241607-86241608	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs138126287	chr9:86241611-86241612	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs188802382	chr9:86241612-86241613	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs141769868	chr9:86241697-86241698	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs76701379	chr9:86241699-86241700	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs150595266	chr9:86241703-86241704	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs181266719	chr9:86241709-86241710	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs185274021	chr9:86241714-86241715	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs567108935	chr9:86241781-86241782	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs533987169	chr9:86241791-86241792	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs574601732	chr9:86241793-86241794	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs566467620	chr9:86241813-86241814	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs558509874	chr9:86241825-86241826	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs564208939	chr9:86241870-86241871	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs576949691	chr9:86241911-86241912	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs530970885	chr9:86241935-86241936	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs189746227	chr9:86241949-86241950	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs574555434	chr9:86241971-86241972	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs541960117	chr9:86241976-86241977	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs138731749	chr9:86241978-86241979	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs66700294	chr9:86242046-86242047	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs200150553	chr9:86242048-86242049	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs200127248	chr9:86242049-86242050	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs528127671	chr9:86242050-86242051	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:66)

Disease	PMID	Source
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
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral cancer	21386901	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Bipolar disorder	18458673	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Gastric cancer	17908304	CNVD
Urothelial cell carcinoma	18451213	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Renal cell carcinoma	18765545	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Glioblastoma multiforme	22286061	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:508 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:86238600-86265000	Weak transcription	Ovary	ovary
2	chr9:86238800-86241600	Flanking Active TSS	Fetal Thymus	thymus
3	chr9:86238800-86242200	Weak transcription	Gastric	stomach
4	chr9:86238800-86242800	Weak transcription	Esophagus	oesophagus
5	chr9:86238800-86243000	Weak transcription	Lung	lung
6	chr9:86238800-86243600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr9:86238800-86244400	Weak transcription	Aorta	Aorta
8	chr9:86238800-86246000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr9:86238800-86246000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr9:86238800-86254600	Weak transcription	Left Ventricle	heart
11	chr9:86238800-86260600	Weak transcription	Right Ventricle	heart
12	chr9:86238800-86264600	Weak transcription	Psoas Muscle	Psoas
13	chr9:86239000-86241400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr9:86239000-86241400	Weak transcription	Fetal Muscle Trunk	muscle
15	chr9:86239000-86242200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr9:86239000-86244200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr9:86239000-86244200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr9:86239000-86244400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr9:86239000-86244400	Weak transcription	HSMM	muscle
20	chr9:86239000-86244600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr9:86239000-86244600	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr9:86239000-86245200	Weak transcription	Fetal Kidney	kidney
23	chr9:86239000-86245400	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr9:86239000-86250000	Weak transcription	HSMMtube	muscle
25	chr9:86239000-86264800	Weak transcription	HMEC	breast
26	chr9:86239000-86265200	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr9:86239200-86241200	Enhancers	Fetal Intestine Small	intestine
28	chr9:86239200-86241400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr9:86239200-86241600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr9:86239200-86241600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr9:86239200-86241600	Weak transcription	Fetal Stomach	stomach
32	chr9:86239200-86241600	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr9:86239200-86241600	Flanking Active TSS	Thymus	Thymus
34	chr9:86239200-86241800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr9:86239200-86242000	Weak transcription	Monocytes-CD14+_RO01746	blood
36	chr9:86239200-86242200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr9:86239200-86243000	Weak transcription	Stomach Smooth Muscle	stomach
38	chr9:86239200-86243800	Weak transcription	A549	lung
39	chr9:86239200-86243800	Weak transcription	Osteobl	bone
40	chr9:86239200-86244000	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr9:86239200-86244000	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr9:86239200-86244000	Weak transcription	NHLF	lung
43	chr9:86239200-86244200	Weak transcription	Colonic Mucosa	Colon
44	chr9:86239200-86244400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr9:86239200-86244800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr9:86239200-86245800	Weak transcription	Brain Germinal Matrix	brain
47	chr9:86239200-86261000	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr9:86239400-86241200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr9:86239400-86241200	Enhancers	Fetal Intestine Large	intestine
50	chr9:86239400-86241200	Weak transcription	NHEK	skin

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