Variant report

Variant	nsv1048733
Chromosome Location	chr9:115523926-115549547
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:32)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:32 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:115512086..115513984-chr9:115541004..115543980,2	MCF-7	breast:
2	chr9:115545740..115547705-chr9:115549522..115552424,3	K562	blood:
3	chr9:115549478..115551812-chr9:115554338..115556959,2	MCF-7	breast:
4	chr9:115543121..115545474-chr9:115548889..115551043,2	K562	blood:
5	chr9:115545454..115548524-chr9:115549503..115552233,3	MCF-7	breast:
6	chr9:115537609..115539652-chr9:115540859..115543192,2	K562	blood:
7	chr9:115512316..115514216-chr9:115529153..115530836,3	MCF-7	breast:
8	chr9:115534861..115537925-chr9:115540163..115544235,3	MCF-7	breast:
9	chr9:115545740..115547705-chr9:115549522..115552424,3	K562	blood:
10	chr9:115549006..115551974-chr9:115557854..115560441,2	K562	blood:
11	chr9:115529521..115533265-chr9:115533546..115536712,4	K562	blood:
12	chr9:115533346..115535894-chr9:115545369..115547662,2	MCF-7	breast:
13	chr9:115511878..115514992-chr9:115533885..115537158,3	MCF-7	breast:
14	chr9:115549226..115551545-chr9:115577690..115579571,2	MCF-7	breast:
15	chr9:115513405..115514933-chr9:115545989..115548662,2	MCF-7	breast:
16	chr9:115545454..115548524-chr9:115549503..115552233,3	MCF-7	breast:
17	chr9:115542323..115543892-chr9:115545474..115547035,2	K562	blood:
18	chr9:115534861..115537925-chr9:115540163..115544235,3	MCF-7	breast:
19	chr9:115511487..115514115-chr9:115544583..115546972,6	MCF-7	breast:
20	chr9:115533906..115536575-chr9:115567141..115568722,2	MCF-7	breast:
21	chr9:115537609..115539652-chr9:115540859..115543192,2	K562	blood:
22	chr9:115512668..115515460-chr9:115534425..115536617,2	K562	blood:
23	chr9:115512640..115515348-chr9:115547273..115548788,2	MCF-7	breast:
24	chr9:115529521..115533265-chr9:115533546..115536712,4	K562	blood:
25	chr9:115512422..115514539-chr9:115533926..115536411,4	MCF-7	breast:
26	chr9:115512086..115514376-chr9:115549215..115552051,3	MCF-7	breast:
27	chr9:115543121..115545474-chr9:115548889..115551043,2	K562	blood:
28	chr9:115511729..115513827-chr9:115524619..115527032,2	K562	blood:
29	chr9:115542323..115543892-chr9:115545474..115547035,2	K562	blood:
30	chr9:115478560..115480431-chr9:115540497..115542363,2	MCF-7	breast:
31	chr12:52582802..52585733-chr9:115525055..115527320,2	MCF-7	breast:
32	chr9:115533346..115535894-chr9:115545369..115547662,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000148153	chromatin interactions
ENSG00000148158	chromatin interactions
ENSG00000226609	chromatin interactions

Extended variants
information (count: 991 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:991 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs113423720	chr9:115523956-115523957	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs188709277	chr9:115523967-115523968	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs143077201	chr9:115524014-115524015	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs556068330	chr9:115524076-115524077	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs576332303	chr9:115524122-115524123	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs542140514	chr9:115524154-115524155	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs180714824	chr9:115524160-115524161	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs66510162	chr9:115524187-115524188	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs398046832	chr9:115524188-115524189	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs79135094	chr9:115524225-115524226	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs148151208	chr9:115524365-115524366	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs80095093	chr9:115524404-115524405	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs112311727	chr9:115524406-115524407	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs73656443	chr9:115524415-115524416	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs141937564	chr9:115524428-115524429	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs570131258	chr9:115524479-115524480	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs554108395	chr9:115524519-115524520	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs529493144	chr9:115524520-115524521	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs572902509	chr9:115524526-115524527	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs146161997	chr9:115524545-115524546	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs566043380	chr9:115524573-115524574	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs140167689	chr9:115524584-115524585	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs557889407	chr9:115524599-115524600	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs571681063	chr9:115524614-115524615	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs537127455	chr9:115524624-115524625	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs185978805	chr9:115524722-115524723	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs539901109	chr9:115524727-115524728	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs553578398	chr9:115524772-115524773	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs542054448	chr9:115524787-115524788	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs116750565	chr9:115524792-115524793	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs62576370	chr9:115524869-115524870	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs527954374	chr9:115524871-115524872	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs563913456	chr9:115524877-115524878	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs532974188	chr9:115524922-115524923	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs547716050	chr9:115524985-115524986	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs563085836	chr9:115524991-115524992	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs529406882	chr9:115524995-115524996	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs549170949	chr9:115525047-115525048	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs386737715	chr9:115525066-115525067	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs371821052	chr9:115525078-115525079	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs559590022	chr9:115525082-115525083	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs117122087	chr9:115525102-115525103	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs141974875	chr9:115525153-115525154	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs192181345	chr9:115525167-115525168	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs183954443	chr9:115525207-115525208	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs550756636	chr9:115525245-115525246	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs567763005	chr9:115525246-115525247	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs10981499	chr9:115525259-115525260	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	mRNA abundance
49	rs111908109	chr9:115525355-115525356	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs115307838	chr9:115525413-115525414	Weak transcription Enhancers Strong transcription	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:825 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:115514600-115526400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr9:115514600-115526400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr9:115515200-115536800	Weak transcription	Fetal Brain Female	brain
4	chr9:115515400-115526600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr9:115516400-115542200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr9:115516600-115526400	Weak transcription	Aorta	Aorta
7	chr9:115517200-115528800	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr9:115517400-115526600	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr9:115517400-115542800	Weak transcription	HSMMtube	muscle
10	chr9:115517800-115524000	Weak transcription	Primary B cells from peripheral blood	blood
11	chr9:115517800-115524400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr9:115517800-115524800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr9:115518000-115524000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr9:115518200-115524000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr9:115518200-115524200	Weak transcription	Ovary	ovary
16	chr9:115518200-115524200	Weak transcription	Pancreas	Pancrea
17	chr9:115518200-115524400	Weak transcription	HepG2	liver
18	chr9:115518200-115526400	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr9:115518200-115526400	Weak transcription	Adipose Nuclei	Adipose
20	chr9:115518200-115526400	Weak transcription	Right Ventricle	heart
21	chr9:115518200-115526600	Weak transcription	Esophagus	oesophagus
22	chr9:115518200-115526600	Weak transcription	Left Ventricle	heart
23	chr9:115518200-115526800	Weak transcription	Stomach Mucosa	stomach
24	chr9:115518200-115527000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr9:115518200-115534400	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr9:115518400-115524400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr9:115518400-115526400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr9:115518600-115524000	Weak transcription	NHLF	lung
29	chr9:115518600-115524600	Weak transcription	Small Intestine	intestine
30	chr9:115518600-115526800	Weak transcription	Colonic Mucosa	Colon
31	chr9:115518600-115526800	Weak transcription	Gastric	stomach
32	chr9:115518600-115528400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr9:115518800-115526200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr9:115519000-115526400	Weak transcription	Right Atrium	heart
35	chr9:115519400-115526200	Weak transcription	Fetal Intestine Large	intestine
36	chr9:115520000-115524000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
37	chr9:115520000-115526200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr9:115520000-115526200	Weak transcription	Duodenum Mucosa	Duodenum
39	chr9:115520000-115526200	Weak transcription	Osteobl	bone
40	chr9:115520200-115526200	Weak transcription	HMEC	breast
41	chr9:115520200-115534200	Weak transcription	Fetal Lung	lung
42	chr9:115520400-115525000	Weak transcription	Spleen	Spleen
43	chr9:115520400-115534200	Weak transcription	Primary T helper cells PMA-I stimulated	--
44	chr9:115520400-115541000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr9:115520600-115524800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr9:115520600-115530400	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr9:115520600-115530800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr9:115520600-115531400	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr9:115520600-115534400	Weak transcription	Stomach Smooth Muscle	stomach
50	chr9:115520800-115524400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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