Variant report

Variant	nsv8560
Chromosome Location	chr9:115604643-115608912
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:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:115606663..115607630-chr9:115649377..115650352,3	K562	blood:
2	chr9:115608067..115608649-chr9:115665121..115665685,2	MCF-7	breast:
3	chr9:115606672..115607642-chr9:115665315..115666036,4	K562	blood:
4	chr9:115606591..115607824-chr9:115664991..115666131,23	MCF-7	breast:
5	chr9:115606376..115607335-chr9:115649571..115650256,3	MCF-7	breast:
6	chr9:115598488..115601038-chr9:115603652..115606343,4	MCF-7	breast:
7	chr9:115607030..115607606-chr9:115644620..115645220,2	MCF-7	breast:
8	chr9:115606797..115607665-chr9:115683466..115683976,2	MCF-7	breast:
9	chr9:115605115..115608085-chr9:115663970..115666331,4	MCF-7	breast:
10	chr9:115606178..115608888-chr9:115665655..115667772,2	K562	blood:
11	chr9:115606728..115607289-chr9:115644336..115645178,2	MCF-7	breast:
12	chr9:115607981..115610113-chr9:115651782..115654095,2	MCF-7	breast:
13	chr9:115607502..115609208-chr9:115615429..115617354,2	MCF-7	breast:
14	chr9:115606716..115607610-chr9:115664880..115666423,8	MCF-7	breast:
15	chr9:115606627..115607225-chr9:115774405..115774960,2	K562	blood:
16	chr9:115512658..115514289-chr9:115605391..115606971,2	K562	blood:
17	chr9:115605264..115607754-chr9:115609316..115612065,2	MCF-7	breast:
18	chr9:115606700..115607559-chr9:115646453..115647076,3	MCF-7	breast:
19	chr9:115568175..115570231-chr9:115604790..115606325,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000119457	chromatin interactions
ENSG00000148158	chromatin interactions
ENSG00000226609	chromatin interactions
ENSG00000228623	chromatin interactions

Extended variants
information (count: 153 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:153 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11794056	chr9:115604643-115604644	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs145404947	chr9:115604650-115604651	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs146520410	chr9:115604677-115604678	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs57672123	chr9:115604719-115604720	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs533855056	chr9:115604801-115604802	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs59721032	chr9:115604828-115604829	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs59645636	chr9:115604867-115604868	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs188222144	chr9:115604868-115604869	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs149122933	chr9:115604900-115604901	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs576059478	chr9:115604907-115604908	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs562835259	chr9:115604964-115604965	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs369566581	chr9:115604995-115604996	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs58247585	chr9:115604996-115604997	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs17743824	chr9:115605027-115605028	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs370764802	chr9:115605073-115605074	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs143184383	chr9:115605146-115605147	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs564663524	chr9:115605151-115605152	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs191537630	chr9:115605181-115605182	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs57546880	chr9:115605184-115605185	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs563759110	chr9:115605217-115605218	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs149147288	chr9:115605231-115605232	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs529359751	chr9:115605244-115605245	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs547950985	chr9:115605315-115605316	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs536344323	chr9:115605323-115605324	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs561522415	chr9:115605363-115605364	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs148201214	chr9:115605385-115605386	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs566684937	chr9:115605528-115605529	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs546410728	chr9:115605577-115605578	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs184879406	chr9:115605585-115605586	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs532894574	chr9:115605631-115605632	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs141142524	chr9:115605635-115605636	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs146961383	chr9:115605638-115605639	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs137982695	chr9:115605686-115605687	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs572976797	chr9:115605693-115605694	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs540016575	chr9:115605709-115605710	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs566527608	chr9:115605710-115605711	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs143213610	chr9:115605733-115605734	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs535276795	chr9:115605735-115605736	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs60663167	chr9:115605772-115605773	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs10981524	chr9:115605782-115605783	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs147498351	chr9:115605783-115605784	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs371025203	chr9:115605865-115605866	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs111745747	chr9:115605893-115605894	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs557096446	chr9:115605899-115605900	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs573724509	chr9:115605900-115605901	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs369264327	chr9:115605906-115605907	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs35950913	chr9:115605907-115605908	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs56797654	chr9:115605925-115605926	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs577015908	chr9:115605972-115605973	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs542694913	chr9:115605988-115605989	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:52)

Disease	PMID	Source
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
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	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
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
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral cancer	21386901	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Gastric cancer	17908304	CNVD
small cell lung cancer	20016488	CNVD
Cardiac fibroma	18329553	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	21364760	CNVD
Developmental delay	21147756	CNVD
Lung cancer	19147751	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Colorectal cancer	16272173	CNVD

Chromatin state (count:255 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:115570600-115608400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr9:115573600-115607800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr9:115577600-115630400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr9:115580200-115608400	Weak transcription	Fetal Kidney	kidney
5	chr9:115582200-115608600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr9:115582400-115608600	Weak transcription	NHLF	lung
7	chr9:115582400-115609000	Weak transcription	NHDF-Ad	bronchial
8	chr9:115582400-115630000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr9:115584400-115608800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr9:115591200-115606800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr9:115591400-115623200	Weak transcription	Fetal Heart	heart
12	chr9:115592600-115607200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr9:115593200-115611000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr9:115593600-115607200	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr9:115594200-115607200	Weak transcription	Fetal Thymus	thymus
16	chr9:115594200-115610800	Weak transcription	Esophagus	oesophagus
17	chr9:115594200-115616000	Weak transcription	Small Intestine	intestine
18	chr9:115594200-115620400	Weak transcription	Thymus	Thymus
19	chr9:115594200-115634400	Weak transcription	NH-A	brain
20	chr9:115594400-115608600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr9:115594400-115626800	Weak transcription	Colon Smooth Muscle	Colon
22	chr9:115594600-115607200	Weak transcription	Primary B cells from peripheral blood	blood
23	chr9:115594600-115607200	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr9:115596400-115613600	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr9:115597400-115605600	Strong transcription	Primary T cells from cord blood	blood
26	chr9:115598000-115605000	Strong transcription	Fetal Muscle Leg	muscle
27	chr9:115598400-115604800	Strong transcription	Fetal Muscle Trunk	muscle
28	chr9:115598600-115615200	Weak transcription	Psoas Muscle	Psoas
29	chr9:115598800-115608400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr9:115598800-115608800	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr9:115598800-115610600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr9:115598800-115613200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr9:115599000-115606800	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr9:115599000-115607200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr9:115599000-115607800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr9:115599000-115623200	Weak transcription	Right Ventricle	heart
37	chr9:115599200-115607200	Weak transcription	Primary hematopoietic stem cells	blood
38	chr9:115599400-115608800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr9:115599400-115609000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr9:115599400-115610600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr9:115599400-115612000	Weak transcription	Pancreas	Pancrea
42	chr9:115599400-115612800	Weak transcription	Placenta	Placenta
43	chr9:115599400-115613000	Weak transcription	Rectal Smooth Muscle	rectum
44	chr9:115599400-115615200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr9:115599400-115623600	Weak transcription	Right Atrium	heart
46	chr9:115599400-115625200	Weak transcription	Colonic Mucosa	Colon
47	chr9:115600400-115604800	Strong transcription	Fetal Intestine Small	intestine
48	chr9:115600800-115608600	Weak transcription	HSMM	muscle
49	chr9:115601000-115607400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
50	chr9:115601000-115610600	Weak transcription	Spleen	Spleen

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