Variant report

Variant	nsv519818
Chromosome Location	chr9:101024887-101092316
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:111)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:111 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr9:101034397..101036575-chr9:101039828..101041518,2	K562	blood:
2	chr9:101064742..101066301-chr9:101069027..101071416,2	K562	blood:
3	chr9:101034358..101036194-chr9:101038260..101041518,3	K562	blood:
4	chr9:101053777..101056513-chr9:101062156..101064768,2	K562	blood:
5	chr9:101034358..101036194-chr9:101038260..101041518,3	K562	blood:
6	chr9:101068980..101070683-chr9:101072276..101074469,2	K562	blood:
7	chr9:100745535..100747183-chr9:101047051..101049111,2	MCF-7	breast:
8	chr9:100684316..100685157-chr9:101025719..101026655,2	NB4	blood:
9	chr9:100967687..100968926-chr9:101025676..101026669,6	K562	blood:
10	chr9:100835138..100837657-chr9:101023286..101025841,2	MCF-7	breast:
11	chr9:101077395..101078268-chr9:101530249..101530829,3	MCF-7	breast:
12	chr9:101078079..101080070-chr9:101458096..101460351,2	K562	blood:
13	chr9:101075867..101078208-chr9:101080022..101082370,2	K562	blood:
14	chr9:101078185..101080834-chr9:101469551..101472431,2	K562	blood:
15	chr9:101045068..101047884-chr9:101049633..101052362,2	MCF-7	breast:
16	chr9:101077049..101078493-chr9:101285520..101286892,8	MCF-7	breast:
17	chr9:101017245..101019908-chr9:101024974..101027737,3	MCF-7	breast:
18	chr9:101039245..101044695-chr9:101044948..101050216,8	K562	blood:
19	chr9:101086196..101088017-chr9:101089801..101091987,3	K562	blood:
20	chr9:101077698..101078261-chr9:101181216..101181803,2	MCF-7	breast:
21	chr9:100944487..100947115-chr9:101025463..101028083,2	MCF-7	breast:
22	chr9:101055613..101057802-chr9:101364140..101366924,2	MCF-7	breast:
23	chr9:101045068..101047884-chr9:101049633..101052362,2	MCF-7	breast:
24	chr9:101078496..101080215-chr9:101367427..101369549,2	MCF-7	breast:
25	chr9:100818347..100819097-chr9:101025427..101026319,2	MCF-7	breast:
26	chr9:101077527..101078492-chr9:101298829..101299830,3	K562	blood:
27	chr9:100836667..100837319-chr9:101025705..101026458,2	MCF-7	breast:
28	chr9:100943812..100946692-chr9:101037813..101039836,2	K562	blood:
29	chr9:101077561..101078510-chr9:101535798..101536902,3	K562	blood:
30	chr9:100745016..100747702-chr9:101051321..101052910,2	MCF-7	breast:
31	chr9:101077814..101081761-chr9:101084202..101087593,3	K562	blood:
32	chr9:100836374..100837282-chr9:101025777..101026312,2	MCF-7	breast:
33	chr9:101076603..101078214-chr9:101139182..101140975,2	K562	blood:
34	chr9:100883706..100884237-chr9:101026117..101026650,2	MCF-7	breast:
35	chr9:101086196..101088017-chr9:101089801..101091987,3	K562	blood:
36	chr9:101070579..101073591-chr9:101076842..101079263,3	MCF-7	breast:
37	chr9:101087150..101090422-chr9:101102751..101107163,4	K562	blood:
38	chr9:101074908..101076596-chr9:101160590..101163322,2	MCF-7	breast:
39	chr9:100966646..100969743-chr9:101023259..101026194,3	K562	blood:
40	chr9:101053777..101056513-chr9:101062156..101064768,2	K562	blood:
41	chr9:101056649..101059040-chr9:101060556..101062926,2	K562	blood:
42	chr9:100986971..100987476-chr9:101025923..101026674,2	K562	blood:
43	chr9:101082003..101083650-chr9:101148288..101150521,2	K562	blood:
44	chr9:101076029..101078815-chr9:101516431..101518577,2	MCF-7	breast:
45	chr9:101077361..101079468-chr9:101293328..101295468,2	K562	blood:
46	chr9:101078759..101081251-chr9:101450781..101452360,2	K562	blood:
47	chr9:100685496..100686599-chr9:101025791..101026677,7	MCF-7	breast:
48	chr9:101064742..101066301-chr9:101069027..101071416,2	K562	blood:
49	chr9:101077513..101078805-chr9:101536863..101538719,11	MCF-7	breast:
50	chr9:100930862..100931822-chr9:101025607..101026459,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000229897	chromatin interactions
ENSG00000106799	chromatin interactions
ENSG00000095383	chromatin interactions
ENSG00000136938	chromatin interactions
ENSG00000136932	chromatin interactions
ENSG00000106789	chromatin interactions
ENSG00000165138	chromatin interactions
ENSG00000136928	chromatin interactions
ENSG00000106785	chromatin interactions
ENSG00000095380	chromatin interactions

Extended variants
information (count: 2770 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:2770 , 50 per page) page: 1 2 3 4 5 6 7 ... 56

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10115971	chr9:101024887-101024888	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs181594309	chr9:101024936-101024937	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs573766610	chr9:101024941-101024942	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs575149036	chr9:101024958-101024959	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs536540744	chr9:101024965-101024966	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs556086772	chr9:101024982-101024983	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs7032496	chr9:101025010-101025011	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs564757900	chr9:101025046-101025047	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs10818691	chr9:101025061-101025062	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs564951016	chr9:101025076-101025077	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs572473749	chr9:101025100-101025101	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs186253973	chr9:101025110-101025111	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs190677199	chr9:101025136-101025137	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs140978230	chr9:101025150-101025151	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs150201770	chr9:101025176-101025177	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs183734201	chr9:101025190-101025191	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs531314848	chr9:101025258-101025259	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs562997292	chr9:101025288-101025289	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs551369556	chr9:101025294-101025295	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs189116187	chr9:101025297-101025298	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs190714136	chr9:101025435-101025436	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs547219432	chr9:101025498-101025499	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs182957308	chr9:101025513-101025514	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs186993960	chr9:101025526-101025527	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs77386495	chr9:101025628-101025629	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs191842199	chr9:101025656-101025657	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs538567785	chr9:101025758-101025759	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs558474989	chr9:101025825-101025826	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs572358328	chr9:101025831-101025832	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs541505115	chr9:101025878-101025879	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs561269600	chr9:101025956-101025957	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs574951991	chr9:101025964-101025965	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs544062679	chr9:101025979-101025980	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs563886348	chr9:101025980-101025981	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs532810720	chr9:101025983-101025984	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs552915736	chr9:101025987-101025988	Enhancers Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs1469800	chr9:101026042-101026043	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs76508796	chr9:101026078-101026079	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
39	rs547448406	chr9:101026083-101026084	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
40	rs7037857	chr9:101026121-101026122	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs529755316	chr9:101026123-101026124	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
42	rs549536318	chr9:101026215-101026216	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
43	rs569516587	chr9:101026221-101026222	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
44	rs538504214	chr9:101026227-101026228	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
45	rs73488791	chr9:101026244-101026245	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs78140607	chr9:101026254-101026255	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
47	rs10818692	chr9:101026301-101026302	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs555029305	chr9:101026331-101026332	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
49	rs10818693	chr9:101026356-101026357	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs557136868	chr9:101026358-101026359	Enhancers Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:76)

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
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	21251322	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral cancer	21386901	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
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Biliary cancer	19435499	CNVD
small cell lung cancer	20016488	CNVD
Intracranial aneurysm	16715129	CNVD
Cardiac fibroma	18329553	CNVD
Breast cancer	17133270	CNVD
Basal cell nevus syndrome	21572526	CNVD
Mental retardation	19951919	CNVD
Retinoblastoma	22278416	CNVD
9q22.3 microdeletion syndrome	22283845	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
overgrowth syndrome	16570072	CNVD
Neurodevelopmental disorder	22521361	CNVD
Nicotine dependence	17160897	CNVD
Mantle cell lymphoma	19029149	CNVD
Esophageal cancer	21851588	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:502 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:101019600-101026200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr9:101019600-101027200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr9:101023600-101026200	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr9:101024000-101026400	Enhancers	HSMMtube	muscle
5	chr9:101024400-101025800	Enhancers	K562	blood
6	chr9:101024400-101026200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr9:101024400-101026200	Enhancers	HSMM	muscle
8	chr9:101024800-101025000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr9:101024800-101025600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr9:101024800-101027600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr9:101025000-101025400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr9:101025200-101026000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr9:101025400-101025600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr9:101025400-101026000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr9:101025400-101026200	Enhancers	Osteobl	bone
16	chr9:101025400-101028400	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr9:101025600-101027000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr9:101025800-101026200	Weak transcription	K562	blood
19	chr9:101025800-101026800	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr9:101026000-101026200	Enhancers	NHDF-Ad	bronchial
21	chr9:101026200-101026400	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr9:101026200-101026400	Enhancers	K562	blood
23	chr9:101026200-101027800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr9:101026400-101027400	Weak transcription	K562	blood
25	chr9:101026400-101028400	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr9:101026400-101036000	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr9:101026800-101027200	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr9:101026800-101027600	Enhancers	H9 Cell Line	embryonic stem cell
29	chr9:101027000-101027600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
30	chr9:101027000-101027600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr9:101027200-101028400	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr9:101027200-101028400	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr9:101027200-101028400	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr9:101027400-101027600	Enhancers	K562	blood
35	chr9:101027600-101028200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
36	chr9:101027600-101028600	Weak transcription	K562	blood
37	chr9:101027600-101030000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr9:101027800-101031200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr9:101028200-101028400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr9:101028200-101037000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr9:101028400-101031200	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr9:101028400-101033600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr9:101028400-101033800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr9:101028400-101033800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr9:101029200-101030400	Enhancers	Hela-S3	cervix
46	chr9:101030000-101030600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr9:101030000-101031400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr9:101030400-101032200	Weak transcription	Hela-S3	cervix
49	chr9:101030600-101031000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr9:101031000-101031600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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