Variant report

Variant	nsv825009
Chromosome Location	chr9:101576414-101580337
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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:101573972..101577031-chr9:101580194..101584196,5	MCF-7	breast:
2	chr9:101574618..101578718-chr9:101578881..101584261,5	K562	blood:
3	chr9:101552665..101555032-chr9:101579639..101581833,2	K562	blood:
4	chr9:101574969..101576630-chr9:101576738..101578393,2	K562	blood:
5	chr9:101573972..101577031-chr9:101580194..101584196,5	MCF-7	breast:
6	chr9:101569707..101574064-chr9:101576163..101580274,6	K562	blood:
7	chr9:101574969..101576630-chr9:101576738..101578393,2	K562	blood:
8	chr9:101574618..101578718-chr9:101578881..101584261,5	K562	blood:
9	chr9:101567189..101569993-chr9:101576279..101580091,3	K562	blood:
10	chr9:101579352..101582875-chr9:101585039..101587415,4	K562	blood:
11	chr9:101573922..101578023-chr9:101591893..101597789,5	K562	blood:
12	chr9:101569805..101572939-chr9:101577293..101579763,4	MCF-7	breast:
13	chr9:101574925..101576845-chr9:101603404..101606201,2	K562	blood:
14	chr9:101571158..101574064-chr9:101576391..101578581,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000119514	chromatin interactions
ENSG00000165138	chromatin interactions

Extended variants
information (count: 139 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:139 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542382438	chr9:101576440-101576441	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs150197618	chr9:101576475-101576476	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs187142407	chr9:101576479-101576480	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs555502999	chr9:101576513-101576514	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs544798474	chr9:101576521-101576522	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs77078797	chr9:101576547-101576548	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs527588553	chr9:101576558-101576559	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs189832139	chr9:101576606-101576607	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs11793365	chr9:101576609-101576610	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs80240283	chr9:101576611-101576612	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs182114151	chr9:101576635-101576636	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs531268581	chr9:101576644-101576645	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs563795837	chr9:101576676-101576677	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs375601205	chr9:101576710-101576711	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs549362653	chr9:101576727-101576728	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs566238102	chr9:101576742-101576743	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs535357400	chr9:101576773-101576774	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs369715114	chr9:101576813-101576814	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs141933997	chr9:101576821-101576822	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs544679360	chr9:101576860-101576861	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs113432337	chr9:101576861-101576862	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs116064453	chr9:101577074-101577075	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs138753966	chr9:101577080-101577081	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs567683741	chr9:101577093-101577094	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs78280499	chr9:101577136-101577137	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs528547768	chr9:101577172-101577173	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs571879729	chr9:101577195-101577196	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs547124146	chr9:101577214-101577215	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs144522517	chr9:101577219-101577220	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs372970749	chr9:101577254-101577255	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs571760348	chr9:101577283-101577284	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs148431376	chr9:101577292-101577293	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs543796671	chr9:101577310-101577311	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs142544599	chr9:101577386-101577387	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs532663803	chr9:101577422-101577423	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs557975777	chr9:101577436-101577437	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs147145415	chr9:101577453-101577454	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs560012200	chr9:101577468-101577469	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs528677598	chr9:101577475-101577476	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs140322521	chr9:101577486-101577487	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs148603541	chr9:101577505-101577506	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs151074848	chr9:101577506-101577507	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs568730779	chr9:101577564-101577565	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs59425448	chr9:101577622-101577623	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs144182469	chr9:101577683-101577684	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs569274433	chr9:101577687-101577688	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs1022796	chr9:101577690-101577691	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs34132548	chr9:101577694-101577695	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs558207876	chr9:101577695-101577696	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs147975940	chr9:101577720-101577721	Weak transcription Enhancers	Chromatin interactive region	1 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
Melanoma	17363583	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:101571000-101586600	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr9:101571200-101577000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr9:101572000-101580800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr9:101572400-101581200	Weak transcription	Colonic Mucosa	Colon
5	chr9:101572400-101581200	Weak transcription	Fetal Stomach	stomach
6	chr9:101572600-101585800	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr9:101572600-101586600	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr9:101572800-101580400	Weak transcription	Stomach Smooth Muscle	stomach
9	chr9:101572800-101581200	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr9:101572800-101589200	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr9:101573000-101580800	Weak transcription	Duodenum Mucosa	Duodenum
12	chr9:101573000-101580800	Weak transcription	Rectal Smooth Muscle	rectum
13	chr9:101573000-101586600	Weak transcription	Esophagus	oesophagus
14	chr9:101573000-101612800	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr9:101573600-101581200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr9:101573800-101586000	Weak transcription	Fetal Intestine Large	intestine
17	chr9:101574000-101580800	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr9:101574000-101585800	Weak transcription	Primary T cells from cord blood	blood
19	chr9:101574400-101580600	Weak transcription	Fetal Intestine Small	intestine
20	chr9:101574400-101585200	Weak transcription	Stomach Mucosa	stomach
21	chr9:101575600-101581400	Weak transcription	K562	blood
22	chr9:101576000-101605000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr9:101577000-101577400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr9:101577200-101577600	Enhancers	Brain Hippocampus Middle	brain
25	chr9:101577400-101585600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr9:101577600-101577800	Enhancers	Brain Inferior Temporal Lobe	brain
27	chr9:101577600-101578200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr9:101577800-101610600	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr9:101578000-101596800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr9:101578200-101580800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr9:101579200-101610800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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