Variant report

Variant	esv3356539
Chromosome Location	chr9:96378631-96382829
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:96382332..96382997-chr9:96442806..96443414,2	MCF-7	breast:
2	chr9:96381800..96384732-chr9:96385534..96387472,3	MCF-7	breast:
3	chr9:96379107..96381453-chr9:96385591..96387233,2	MCF-7	breast:
4	chr9:96346772..96349327-chr9:96380904..96383527,2	MCF-7	breast:
5	chr9:96338100..96342684-chr9:96381746..96385734,6	MCF-7	breast:
6	chr9:96337969..96340007-chr9:96379464..96381194,2	MCF-7	breast:
7	chr9:96375382..96377064-chr9:96378905..96380672,2	MCF-7	breast:
8	chr9:96374097..96376355-chr9:96382214..96384351,2	K562	blood:
9	chr9:96371713..96374026-chr9:96382749..96385685,2	K562	blood:
10	chr9:96336833..96339118-chr9:96375167..96379434,3	MCF-7	breast:
11	chr9:96382620..96384260-chr9:96389901..96392114,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000197724	chromatin interactions

Extended variants
information (count: 231 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:231 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs200768064	chr9:96378667-96378668	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs78738062	chr9:96378676-96378677	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs202047488	chr9:96378683-96378684	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs200150193	chr9:96378689-96378690	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs560824983	chr9:96378755-96378756	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs143673392	chr9:96378763-96378764	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs544455540	chr9:96378817-96378818	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs374471461	chr9:96378823-96378824	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs4744260	chr9:96378829-96378830	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs73651296	chr9:96378833-96378834	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs74312821	chr9:96378892-96378893	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs148914728	chr9:96378893-96378894	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs398068784	chr9:96378894-96378895	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs117916481	chr9:96378914-96378915	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs112101838	chr9:96378933-96378934	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs34471538	chr9:96378934-96378935	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs111374021	chr9:96378946-96378947	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs398011513	chr9:96378947-96378948	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs77688649	chr9:96378948-96378949	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs367984337	chr9:96378962-96378963	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs576792149	chr9:96378989-96378990	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs532110684	chr9:96378993-96378994	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs76883066	chr9:96379002-96379003	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs547475663	chr9:96379007-96379008	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs566293348	chr9:96379010-96379011	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs77030578	chr9:96379014-96379015	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs80206098	chr9:96379016-96379017	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs536812863	chr9:96379033-96379034	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs141321153	chr9:96379038-96379039	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs115265515	chr9:96379044-96379045	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs562479032	chr9:96379061-96379062	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs374793841	chr9:96379064-96379065	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs529769057	chr9:96379126-96379127	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs376923836	chr9:96379154-96379155	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs541871917	chr9:96379166-96379167	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs367957549	chr9:96379169-96379170	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs193045297	chr9:96379179-96379180	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs145034266	chr9:96379189-96379190	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs369037827	chr9:96379262-96379263	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs553019223	chr9:96379295-96379296	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs571935058	chr9:96379340-96379341	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs542395716	chr9:96379343-96379344	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs527531123	chr9:96379377-96379378	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs551945114	chr9:96379380-96379381	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs77586221	chr9:96379391-96379392	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs72745492	chr9:96379399-96379400	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs142533839	chr9:96379427-96379428	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs75729879	chr9:96379428-96379429	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs576254609	chr9:96379429-96379430	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs10821181	chr9:96379483-96379484	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	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
Mental retardation	21693067	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
Microcephaly	18830227	CNVD
overgrowth syndrome	16570072	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:246 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:96352400-96384600	Weak transcription	NHLF	lung
2	chr9:96361400-96380400	Weak transcription	Fetal Brain Male	brain
3	chr9:96361600-96379400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr9:96363200-96392000	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr9:96363600-96383600	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr9:96364200-96380600	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr9:96366400-96379400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr9:96366600-96386600	Weak transcription	Fetal Heart	heart
9	chr9:96372800-96392000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr9:96373000-96379400	Weak transcription	Primary T helper cells fromperipheralblood	blood
11	chr9:96373400-96379400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr9:96373400-96379400	Weak transcription	Brain Anterior Caudate	brain
13	chr9:96373400-96379400	Weak transcription	Fetal Intestine Large	intestine
14	chr9:96373400-96386200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr9:96373400-96387000	Weak transcription	Fetal Brain Female	brain
16	chr9:96373400-96390000	Weak transcription	Primary B cells from cord blood	blood
17	chr9:96373600-96379400	Weak transcription	Brain Germinal Matrix	brain
18	chr9:96373800-96379000	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr9:96374600-96399800	Weak transcription	K562	blood
20	chr9:96374800-96379400	Weak transcription	Small Intestine	intestine
21	chr9:96374800-96385400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr9:96375000-96381600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr9:96375000-96382400	Weak transcription	Liver	Liver
24	chr9:96375000-96382600	Weak transcription	Hela-S3	cervix
25	chr9:96375200-96379200	Weak transcription	Brain Hippocampus Middle	brain
26	chr9:96375200-96379400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr9:96375200-96379600	Weak transcription	Thymus	Thymus
28	chr9:96375200-96383200	Weak transcription	Primary hematopoietic stem cells	blood
29	chr9:96375200-96383200	Weak transcription	Stomach Mucosa	stomach
30	chr9:96375200-96383800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr9:96375200-96391800	Weak transcription	Colonic Mucosa	Colon
32	chr9:96375400-96379400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr9:96375400-96379400	Weak transcription	Adipose Nuclei	Adipose
34	chr9:96375400-96379400	Weak transcription	Brain Substantia Nigra	brain
35	chr9:96375400-96380400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr9:96375400-96385800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr9:96375600-96379400	Weak transcription	Aorta	Aorta
38	chr9:96375600-96379400	Weak transcription	Placenta	Placenta
39	chr9:96375600-96382800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr9:96375600-96383000	Weak transcription	Primary T helper cells PMA-I stimulated	--
41	chr9:96375600-96383200	Weak transcription	Brain Angular Gyrus	brain
42	chr9:96375600-96383600	Weak transcription	Duodenum Mucosa	Duodenum
43	chr9:96375600-96383800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr9:96375600-96390000	Weak transcription	Rectal Smooth Muscle	rectum
45	chr9:96375800-96379400	Weak transcription	Ovary	ovary
46	chr9:96375800-96383400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr9:96375800-96386200	Weak transcription	Dnd41	blood
48	chr9:96375800-96390000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
49	chr9:96376000-96380400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
50	chr9:96376000-96381000	Weak transcription	Primary T cells fromperipheralblood	blood

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