Variant report

Variant	nsv893624
Chromosome Location	chr9:103351931-103416553
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:51)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:51 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr9:103364821..103366561-chr9:103368020..103370868,2	K562	blood:
2	chr9:103364235..103365012-chr9:104074061..104074764,2	MCF-7	breast:
3	chr9:103361504..103363020-chr9:103366654..103368893,2	K562	blood:
4	chr9:103085335..103085949-chr9:103357611..103358310,2	MCF-7	breast:
5	chr9:103402422..103404488-chr9:103405608..103408144,2	K562	blood:
6	chr9:103363137..103364168-chr9:104073197..104074607,7	K562	blood:
7	chr9:103268207..103270870-chr9:103356475..103358735,2	MCF-7	breast:
8	chr9:103348301..103352050-chr9:103353631..103357839,4	K562	blood:
9	chr9:103364821..103366561-chr9:103368020..103370868,2	K562	blood:
10	chr9:103358110..103359783-chr9:103360702..103363224,2	MCF-7	breast:
11	chr9:103189259..103191094-chr9:103351193..103354003,2	MCF-7	breast:
12	chr9:103364641..103365313-chr9:103452736..103453389,3	MCF-7	breast:
13	chr9:103348301..103352050-chr9:103353631..103357839,4	K562	blood:
14	chr9:103385378..103387521-chr9:103389215..103391737,2	MCF-7	breast:
15	chr9:103392914..103394911-chr9:103400150..103401746,2	MCF-7	breast:
16	chr9:103385378..103387521-chr9:103389215..103391737,2	MCF-7	breast:
17	chr9:103358110..103359783-chr9:103360702..103363224,2	MCF-7	breast:
18	chr9:103344131..103345927-chr9:103350360..103352204,2	MCF-7	breast:
19	chr9:103364204..103366504-chr9:103372909..103374842,2	K562	blood:
20	chr9:103267728..103268488-chr9:103357705..103358523,3	MCF-7	breast:
21	chr9:103363051..103364166-chr9:103997474..103998411,6	MCF-7	breast:
22	chr9:103362677..103364065-chr9:104073640..104074719,9	MCF-7	breast:
23	chr9:103278757..103281071-chr9:103359482..103361806,2	K562	blood:
24	chr9:103364204..103366504-chr9:103372909..103374842,2	K562	blood:
25	chr9:103267523..103268486-chr9:103357439..103358632,10	MCF-7	breast:
26	chr9:103364791..103365296-chr9:104073724..104074625,2	K562	blood:
27	chr9:103363485..103364212-chr9:103881258..103882118,3	MCF-7	breast:
28	chr9:103266963..103267886-chr9:103356299..103356980,2	MCF-7	breast:
29	chr9:103388531..103390042-chr9:103390783..103393559,2	K562	blood:
30	chr9:103402422..103404488-chr9:103405608..103408144,2	K562	blood:
31	chr9:103362495..103364857-chr9:103444927..103447653,2	MCF-7	breast:
32	chr9:103388531..103390042-chr9:103390783..103393559,2	K562	blood:
33	chr9:103188502..103190077-chr9:103358977..103360522,2	MCF-7	breast:
34	chr9:103350659..103353280-chr9:103360412..103361939,2	K562	blood:
35	chr9:103207631..103208140-chr9:103357331..103358167,2	MCF-7	breast:
36	chr9:103279571..103281078-chr9:103358915..103361806,2	K562	blood:
37	chr9:103363453..103364061-chr9:103452467..103452969,2	MCF-7	breast:
38	chr9:103350659..103353280-chr9:103360412..103361939,2	K562	blood:
39	chr9:103364267..103365117-chr9:103452471..103453401,2	MCF-7	breast:
40	chr9:103356597..103359532-chr9:103359671..103361180,2	K562	blood:
41	chr9:103364305..103365019-chr9:104073743..104074587,4	MCF-7	breast:
42	chr9:103364585..103365306-chr9:103424402..103424922,2	MCF-7	breast:
43	chr9:103363061..103364025-chr9:104073627..104074488,4	MCF-7	breast:
44	chr9:103392914..103394911-chr9:103400150..103401746,2	MCF-7	breast:
45	chr9:103187168..103189222-chr9:103356564..103358499,2	K562	blood:
46	chr9:103363089..103366004-chr9:103369359..103371532,2	K562	blood:
47	chr9:103363089..103366004-chr9:103369359..103371532,2	K562	blood:
48	chr9:103361504..103363020-chr9:103366654..103368893,2	K562	blood:
49	chr9:103364362..103365291-chr9:103997516..103998642,7	MCF-7	breast:
50	chr9:103360698..103363075-chr9:104159012..104161996,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000136870	chromatin interactions
ENSG00000136897	chromatin interactions
ENSG00000066697	chromatin interactions

Extended variants
information (count: 1639 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:1639 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1226596	chr9:103351931-103351932	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs565503633	chr9:103351934-103351935	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs536470857	chr9:103351958-103351959	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs527854859	chr9:103352010-103352011	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs548747940	chr9:103352013-103352014	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs548146926	chr9:103352024-103352025	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs367918336	chr9:103352026-103352027	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs150605459	chr9:103352039-103352040	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs536296636	chr9:103352060-103352061	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs567067305	chr9:103352062-103352063	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs115123309	chr9:103352098-103352099	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs560415506	chr9:103352117-103352118	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs181740115	chr9:103352138-103352139	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs538752266	chr9:103352157-103352158	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs3748163	chr9:103352242-103352243	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs577447570	chr9:103352266-103352267	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs534467005	chr9:103352290-103352291	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs139696175	chr9:103352302-103352303	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs17815616	chr9:103352380-103352381	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs577351993	chr9:103352448-103352449	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs573866975	chr9:103352501-103352502	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs542513369	chr9:103352584-103352585	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs562505783	chr9:103352588-103352589	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs200227779	chr9:103352691-103352692	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs11372453	chr9:103352693-103352694	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs398046682	chr9:103352696-103352697	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs202019509	chr9:103352721-103352722	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs76866470	chr9:103352726-103352727	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs370212782	chr9:103352743-103352744	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs550318228	chr9:103352748-103352749	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs1226595	chr9:103352750-103352751	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs149363480	chr9:103352752-103352753	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs542474652	chr9:103352804-103352805	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs561466357	chr9:103352816-103352817	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs116548971	chr9:103352819-103352820	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs550161613	chr9:103352830-103352831	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs547353820	chr9:103352853-103352854	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs111566802	chr9:103352871-103352872	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs78248437	chr9:103352930-103352931	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs1226594	chr9:103352968-103352969	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs540095102	chr9:103353005-103353006	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs1226593	chr9:103353017-103353018	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs565831912	chr9:103353082-103353083	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs533775792	chr9:103353095-103353096	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs553938886	chr9:103353140-103353141	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs568890965	chr9:103353163-103353164	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs532023198	chr9:103353199-103353200	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs536567437	chr9:103353235-103353236	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs539088152	chr9:103353252-103353253	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs556151986	chr9:103353270-103353271	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:68)

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
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
Gastrointestinal stromal cancer	20877625	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
small cell lung cancer	20016488	CNVD
Cardiac fibroma	18329553	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Fukuyama congenital muscular dystrophy	21572526	CNVD
Testicular germ cell tumor	18059402	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Mantle cell lymphoma	19029149	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	22522925	CNVD
Melanoma	20877625	CNVD

Chromatin state (count:642 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:103329600-103360800	Weak transcription	Aorta	Aorta
2	chr9:103330000-103357800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr9:103331600-103360200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr9:103332400-103357600	Weak transcription	Fetal Lung	lung
5	chr9:103333600-103360800	Weak transcription	Fetal Brain Male	brain
6	chr9:103337600-103352200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr9:103338800-103352200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr9:103343200-103360600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr9:103344200-103352200	Weak transcription	Brain Angular Gyrus	brain
10	chr9:103346200-103359800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr9:103346600-103353600	Weak transcription	Psoas Muscle	Psoas
12	chr9:103348400-103353400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr9:103348600-103361000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr9:103348800-103360600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr9:103349000-103353200	Enhancers	HUVEC	blood vessel
16	chr9:103349200-103352200	Weak transcription	Brain Cingulate Gyrus	brain
17	chr9:103349200-103353000	Weak transcription	Brain Anterior Caudate	brain
18	chr9:103349600-103360800	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr9:103349800-103352000	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr9:103349800-103359400	Weak transcription	Brain Germinal Matrix	brain
21	chr9:103350000-103352000	Weak transcription	HSMM	muscle
22	chr9:103350000-103352000	Weak transcription	NHEK	skin
23	chr9:103350000-103352200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr9:103350000-103352400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr9:103350000-103352400	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr9:103350000-103352600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr9:103350000-103353200	Weak transcription	Fetal Muscle Trunk	muscle
28	chr9:103350000-103353600	Weak transcription	Fetal Muscle Leg	muscle
29	chr9:103350000-103357600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr9:103350000-103357600	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr9:103350000-103360200	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr9:103350200-103352200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr9:103350200-103357600	Weak transcription	Fetal Brain Female	brain
34	chr9:103350200-103360200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr9:103350400-103357600	Weak transcription	Hela-S3	cervix
36	chr9:103350400-103359200	Weak transcription	Fetal Heart	heart
37	chr9:103350400-103360000	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr9:103350600-103352000	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr9:103350600-103360800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr9:103350800-103357600	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr9:103351000-103352000	Weak transcription	A549	lung
42	chr9:103351000-103360000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr9:103351000-103360600	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr9:103351200-103357600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr9:103351400-103353600	Enhancers	NHDF-Ad	bronchial
46	chr9:103351400-103354200	Enhancers	Brain Inferior Temporal Lobe	brain
47	chr9:103351400-103354400	Enhancers	Brain Hippocampus Middle	brain
48	chr9:103351600-103353800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr9:103351600-103355600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr9:103351600-103360600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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