Variant report

Variant	esv3342338
Chromosome Location	chr9:117241931-117246329
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:117241459..117243651-chr9:117245705..117247358,2	K562	blood:
2	chr9:117236246..117239136-chr9:117239512..117242248,3	MCF-7	breast:
3	chr9:117243687..117246488-chr9:117248496..117251442,4	K562	blood:
4	chr9:117243687..117246458-chr9:117248711..117251442,3	K562	blood:
5	chr9:117245407..117247837-chr9:117266254..117268083,4	MCF-7	breast:
6	chr9:117237971..117240449-chr9:117241611..117244941,3	MCF-7	breast:
7	chr9:117241459..117243651-chr9:117245705..117247358,2	K562	blood:
8	chr9:117245453..117248904-chr9:117263542..117267923,5	MCF-7	breast:
9	chr9:117243612..117247589-chr9:117265691..117269456,5	K562	blood:
10	chr9:117233076..117235078-chr9:117244132..117245653,2	K562	blood:
11	chr9:117245240..117247024-chr9:117349735..117351264,2	MCF-7	breast:
12	chr9:117190762..117192501-chr9:117241427..117244024,2	K562	blood:
13	chr9:117232781..117234959-chr9:117246014..117247674,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000095397	chromatin interactions
ENSG00000136888	chromatin interactions

Extended variants
information (count: 196 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:196 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs551079949	chr9:117241943-117241944	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs571266731	chr9:117241948-117241949	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs190876628	chr9:117241960-117241961	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs550658134	chr9:117241996-117241997	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs182597317	chr9:117242024-117242025	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs114054789	chr9:117242064-117242065	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs552775116	chr9:117242080-117242081	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs370548638	chr9:117242081-117242082	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs566416844	chr9:117242159-117242160	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs538967104	chr9:117242192-117242193	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs142931324	chr9:117242204-117242205	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs577974980	chr9:117242280-117242281	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs543512706	chr9:117242285-117242286	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs557508021	chr9:117242298-117242299	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs187647258	chr9:117242300-117242301	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs190962091	chr9:117242330-117242331	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs182842413	chr9:117242332-117242333	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs573573006	chr9:117242337-117242338	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs187524212	chr9:117242350-117242351	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs113073044	chr9:117242364-117242365	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs564683507	chr9:117242365-117242366	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs530542465	chr9:117242427-117242428	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs544097437	chr9:117242457-117242458	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs7852982	chr9:117242498-117242499	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs79608458	chr9:117242531-117242532	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs529775705	chr9:117242550-117242551	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs147004889	chr9:117242555-117242556	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs114262786	chr9:117242556-117242557	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs10817622	chr9:117242575-117242576	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs16929518	chr9:117242599-117242600	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs192673155	chr9:117242610-117242611	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs548197028	chr9:117242628-117242629	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs537476008	chr9:117242644-117242645	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs557420289	chr9:117242646-117242647	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs116245993	chr9:117242684-117242685	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs536789001	chr9:117242686-117242687	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs553557125	chr9:117242687-117242688	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs371642075	chr9:117242694-117242695	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs184709639	chr9:117242719-117242720	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs560236204	chr9:117242743-117242744	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs200208727	chr9:117242760-117242761	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs202209126	chr9:117242761-117242762	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs373941287	chr9:117242762-117242763	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs200406085	chr9:117242765-117242766	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs386415968	chr9:117242766-117242767	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs397723179	chr9:117242769-117242770	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs369732699	chr9:117242770-117242771	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs372446880	chr9:117242771-117242772	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs375426094	chr9:117242772-117242773	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs11787667	chr9:117242845-117242846	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:61)

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
Bladder cancer	21909424	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	21509527	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Cervical cancer	16585170	CNVD
Ependymoma	19289631	CNVD
Retinoblastoma	19183342	CNVD

Chromatin state (count:146 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:117217800-117242600	Weak transcription	HepG2	liver
2	chr9:117220400-117246600	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr9:117222200-117244600	Weak transcription	K562	blood
4	chr9:117222600-117246800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr9:117225600-117245800	Weak transcription	Fetal Lung	lung
6	chr9:117226400-117242600	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr9:117227800-117247000	Weak transcription	Duodenum Mucosa	Duodenum
8	chr9:117232800-117249800	Weak transcription	Adipose Nuclei	Adipose
9	chr9:117234200-117244800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr9:117235400-117246000	Weak transcription	Esophagus	oesophagus
11	chr9:117235800-117242200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr9:117236000-117247200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr9:117236600-117243200	Weak transcription	Fetal Muscle Leg	muscle
14	chr9:117237000-117242400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr9:117237800-117242800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr9:117238200-117242400	Weak transcription	Primary hematopoietic stem cells	blood
17	chr9:117238200-117243200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr9:117238200-117243400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr9:117238200-117247200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr9:117238400-117243200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr9:117238400-117246000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr9:117238600-117245800	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr9:117239000-117247000	Weak transcription	Primary B cells from peripheral blood	blood
24	chr9:117239400-117244600	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr9:117239400-117249800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr9:117239800-117242800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr9:117240000-117243800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr9:117240000-117243800	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr9:117240000-117266600	Weak transcription	Gastric	stomach
30	chr9:117240200-117244000	Weak transcription	Pancreas	Pancrea
31	chr9:117240200-117244600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr9:117240200-117244800	Weak transcription	Brain Angular Gyrus	brain
33	chr9:117240200-117244800	Weak transcription	Colon Smooth Muscle	Colon
34	chr9:117240400-117243200	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr9:117240400-117244600	Weak transcription	Brain Cingulate Gyrus	brain
36	chr9:117240400-117244800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr9:117240400-117249800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr9:117240600-117244600	Weak transcription	Brain Hippocampus Middle	brain
39	chr9:117240600-117244600	Weak transcription	Brain Substantia Nigra	brain
40	chr9:117240800-117243800	Weak transcription	Stomach Smooth Muscle	stomach
41	chr9:117241000-117243400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr9:117241000-117249800	Weak transcription	Brain Anterior Caudate	brain
43	chr9:117241000-117255800	Weak transcription	Fetal Intestine Small	intestine
44	chr9:117241200-117242600	Enhancers	Ovary	ovary
45	chr9:117241200-117243200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr9:117241200-117243200	Weak transcription	Fetal Stomach	stomach
47	chr9:117241200-117243400	Weak transcription	Fetal Muscle Trunk	muscle
48	chr9:117241200-117243800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr9:117241200-117245200	Weak transcription	Placenta	Placenta
50	chr9:117241400-117243200	Weak transcription	Fetal Intestine Large	intestine

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