Variant report

Variant	nsv972793
Chromosome Location	chr9:100521630-100525389
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:100514901..100517878-chr9:100521505..100523332,2	K562	blood:
2	chr9:100524684..100526185-chr9:100530606..100532510,2	MCF-7	breast:
3	chr9:100521393..100523336-chr9:100532827..100534532,2	MCF-7	breast:
4	chr9:100443223..100445112-chr9:100524336..100526011,2	K562	blood:
5	chr9:100519613..100522363-chr9:100523340..100525819,2	K562	blood:
6	chr9:100519613..100522363-chr9:100523340..100525819,2	K562	blood:
7	chr9:100510873..100512697-chr9:100522952..100525566,2	MCF-7	breast:
8	chr9:100501560..100504087-chr9:100522833..100525239,2	K562	blood:

No data

Extended variants
information (count: 135 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:135 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs35727347	chr9:100521630-100521631	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs77470572	chr9:100521631-100521632	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs71308253	chr9:100521641-100521642	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs573093828	chr9:100521645-100521646	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs575791274	chr9:100521739-100521740	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs533804379	chr9:100521750-100521751	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs77493995	chr9:100521754-100521755	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs16924053	chr9:100521784-100521785	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs145081135	chr9:100521793-100521794	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs562254806	chr9:100521803-100521804	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs138867667	chr9:100521858-100521859	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs544625780	chr9:100521875-100521876	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs10983648	chr9:100521940-100521941	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs533125560	chr9:100521954-100521955	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs181949830	chr9:100521969-100521970	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs536499148	chr9:100522152-100522153	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs77448687	chr9:100522213-100522214	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs187647867	chr9:100522278-100522279	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs548896477	chr9:100522297-100522298	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs567389364	chr9:100522309-100522310	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs537522480	chr9:100522335-100522336	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs142005263	chr9:100522436-100522437	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs1512261	chr9:100522530-100522531	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs190770129	chr9:100522550-100522551	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs150407526	chr9:100522558-100522559	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs558492185	chr9:100522571-100522572	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs573572856	chr9:100522583-100522584	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs369828058	chr9:100522664-100522665	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs7023279	chr9:100522670-100522671	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs541410531	chr9:100522766-100522767	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs138630210	chr9:100522774-100522775	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs574105308	chr9:100522783-100522784	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs544397866	chr9:100522808-100522809	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs76178288	chr9:100522815-100522816	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs182300453	chr9:100522855-100522856	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs149331985	chr9:100522878-100522879	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs73655172	chr9:100522894-100522895	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs367989459	chr9:100522929-100522930	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs113583583	chr9:100522970-100522971	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs560946322	chr9:100522986-100522987	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs113601741	chr9:100522988-100522989	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs531498447	chr9:100523049-100523050	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs549910493	chr9:100523074-100523075	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs139767705	chr9:100523095-100523096	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs374920357	chr9:100523103-100523104	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs186960155	chr9:100523110-100523111	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs369436631	chr9:100523123-100523124	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs538681495	chr9:100523124-100523125	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs547404579	chr9:100523146-100523147	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs567186434	chr9:100523158-100523159	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

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
Non-syndromic sensorineural hearing loss	21987784	CNVD

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:100515200-100524200	Weak transcription	Esophagus	oesophagus
2	chr9:100519400-100523600	Enhancers	Fetal Intestine Large	intestine
3	chr9:100519800-100523600	Enhancers	Fetal Intestine Small	intestine
4	chr9:100521000-100524600	Enhancers	Adipose Nuclei	Adipose
5	chr9:100521400-100521800	Enhancers	HepG2	liver
6	chr9:100521400-100523800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr9:100521400-100524000	Enhancers	Liver	Liver
8	chr9:100521600-100522200	Enhancers	Colon Smooth Muscle	Colon
9	chr9:100521600-100522200	Enhancers	HSMMtube	muscle
10	chr9:100521600-100523800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr9:100521800-100522800	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr9:100521800-100522800	Enhancers	A549	lung
13	chr9:100521800-100522800	Flanking Active TSS	HepG2	liver
14	chr9:100522000-100522200	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr9:100522000-100522200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr9:100522000-100522200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
17	chr9:100522000-100522400	Enhancers	Right Atrium	heart
18	chr9:100522000-100522800	Enhancers	Small Intestine	intestine
19	chr9:100522000-100523600	Enhancers	Duodenum Mucosa	Duodenum
20	chr9:100522200-100522400	Bivalent Enhancer	Stomach Mucosa	stomach
21	chr9:100522400-100526200	Weak transcription	Right Atrium	heart
22	chr9:100522800-100523200	Enhancers	HepG2	liver
23	chr9:100523200-100523600	Enhancers	Hela-S3	cervix
24	chr9:100523200-100523800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
25	chr9:100523200-100524000	Flanking Active TSS	HepG2	liver
26	chr9:100523600-100524000	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
27	chr9:100523600-100524000	Flanking Active TSS	Fetal Intestine Large	intestine
28	chr9:100523600-100524000	Flanking Active TSS	Fetal Intestine Small	intestine
29	chr9:100523600-100527800	Weak transcription	Hela-S3	cervix
30	chr9:100523800-100524000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr9:100524000-100524400	Enhancers	HepG2	liver
32	chr9:100524000-100526600	Enhancers	Fetal Intestine Small	intestine
33	chr9:100524000-100526800	Enhancers	Fetal Intestine Large	intestine
34	chr9:100524200-100524400	Enhancers	Esophagus	oesophagus
35	chr9:100524400-100525400	Weak transcription	Esophagus	oesophagus
36	chr9:100524600-100525000	Weak transcription	Adipose Nuclei	Adipose
37	chr9:100525000-100525800	Enhancers	Adipose Nuclei	Adipose

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