Variant report

Variant	esv3392644
Chromosome Location	chr9:93602031-93605929
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:93595760..93597786-chr9:93599471..93602045,2	MCF-7	breast:
2	chr9:93562704..93564594-chr9:93601013..93602789,2	MCF-7	breast:
3	chr9:93603689..93605375-chr9:93607023..93609459,2	K562	blood:
4	chr9:93562170..93565767-chr9:93598280..93603069,5	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DIRAS2-9	chr9:93604142-93604223	NONHSAT133101
2	lnc-DIRAS2-9	chr9:93603594-93604087	NONHSAT133101

Variant related genes	Relation type
ENSG00000165025	chromatin interactions

Extended variants
information (count: 221 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:221 , 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	rs74527110	chr9:93602052-93602053	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs151199263	chr9:93602057-93602058	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs189843540	chr9:93602072-93602073	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs1864201	chr9:93602073-93602074	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs368786094	chr9:93602136-93602137	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs193073203	chr9:93602137-93602138	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs1864200	chr9:93602185-93602186	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs1864199	chr9:93602189-93602190	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs74539666	chr9:93602220-93602221	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs542008290	chr9:93602237-93602238	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs572858938	chr9:93602247-93602248	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs545289097	chr9:93602267-93602268	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs565003042	chr9:93602288-93602289	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs185269400	chr9:93602328-93602329	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs138874735	chr9:93602335-93602336	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs530865742	chr9:93602346-93602347	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs542272667	chr9:93602379-93602380	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs550583469	chr9:93602466-93602467	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs561041684	chr9:93602476-93602477	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs529861589	chr9:93602498-93602499	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs546709541	chr9:93602517-93602518	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs560199763	chr9:93602535-93602536	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs531965892	chr9:93602595-93602596	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs557308966	chr9:93602642-93602643	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs140369985	chr9:93602654-93602655	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs570789521	chr9:93602691-93602692	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs571816109	chr9:93602699-93602700	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs537737309	chr9:93602704-93602705	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs149958024	chr9:93602757-93602758	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs73650262	chr9:93602759-93602760	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs567508888	chr9:93602763-93602764	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs373411131	chr9:93602771-93602772	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs113050745	chr9:93602796-93602797	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs12346938	chr9:93602835-93602836	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs369052065	chr9:93602837-93602838	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs77695434	chr9:93602840-93602841	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs80223680	chr9:93602841-93602842	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs111898268	chr9:93602855-93602856	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs71360457	chr9:93602858-93602859	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs188545359	chr9:93602878-93602879	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs533156992	chr9:93602929-93602930	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs181340212	chr9:93602948-93602949	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs10993706	chr9:93602967-93602968	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs201122820	chr9:93602995-93602996	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs371227690	chr9:93602999-93603000	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs184926694	chr9:93603009-93603010	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs188175403	chr9:93603011-93603012	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs561107569	chr9:93603033-93603034	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs574644746	chr9:93603061-93603062	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs373144537	chr9:93603092-93603093	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

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
Glioma	17123091	CNVD
Mantle cell lymphoma	19029149	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
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:162 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:93565000-93609000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr9:93577800-93606200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr9:93580800-93603400	Weak transcription	K562	blood
4	chr9:93585600-93607800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr9:93589200-93606000	Weak transcription	Colonic Mucosa	Colon
6	chr9:93591000-93603200	Weak transcription	Fetal Kidney	kidney
7	chr9:93592600-93602200	Weak transcription	Esophagus	oesophagus
8	chr9:93593600-93603400	Genic enhancers	Primary B cells from peripheral blood	blood
9	chr9:93594200-93602800	Genic enhancers	Primary B cells from cord blood	blood
10	chr9:93595800-93603200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr9:93595800-93603200	Weak transcription	NHEK	skin
12	chr9:93595800-93606600	Weak transcription	Stomach Mucosa	stomach
13	chr9:93596000-93607600	Weak transcription	Fetal Intestine Large	intestine
14	chr9:93596800-93602200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr9:93598000-93602200	Weak transcription	Lung	lung
16	chr9:93598000-93603200	Weak transcription	Pancreas	Pancrea
17	chr9:93598200-93606600	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr9:93599200-93616600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr9:93599400-93602600	Genic enhancers	Primary monocytes fromperipheralblood	blood
20	chr9:93599600-93602400	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr9:93599600-93602600	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr9:93599600-93602600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr9:93599600-93602600	Strong transcription	Fetal Intestine Small	intestine
24	chr9:93599600-93602600	Genic enhancers	Monocytes-CD14+_RO01746	blood
25	chr9:93599800-93603400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
26	chr9:93600200-93602600	Strong transcription	Primary neutrophils fromperipheralblood	blood
27	chr9:93600200-93606400	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
28	chr9:93600200-93613800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr9:93600800-93602200	Enhancers	Thymus	Thymus
30	chr9:93600800-93602400	Enhancers	Fetal Muscle Trunk	muscle
31	chr9:93600800-93602800	Enhancers	Fetal Thymus	thymus
32	chr9:93601000-93603400	Weak transcription	Fetal Lung	lung
33	chr9:93601000-93603400	Weak transcription	Gastric	stomach
34	chr9:93601200-93602400	Enhancers	Primary hematopoietic stem cells	blood
35	chr9:93601200-93602800	Genic enhancers	Spleen	Spleen
36	chr9:93601400-93602200	Strong transcription	Fetal Stomach	stomach
37	chr9:93601400-93602600	Weak transcription	Fetal Muscle Leg	muscle
38	chr9:93601600-93604800	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr9:93601800-93602400	Enhancers	Skeletal Muscle Female	skeletal muscle
40	chr9:93601800-93602600	Enhancers	Skeletal Muscle Male	skeletal muscle
41	chr9:93601800-93603200	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr9:93601800-93642200	Weak transcription	Rectal Smooth Muscle	rectum
43	chr9:93602000-93602200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr9:93602000-93602200	Flanking Active TSS	GM12878-XiMat	blood
45	chr9:93602000-93602600	Genic enhancers	Duodenum Mucosa	Duodenum
46	chr9:93602000-93606600	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr9:93602200-93602400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr9:93602200-93602400	Genic enhancers	Esophagus	oesophagus
49	chr9:93602200-93602400	Genic enhancers	Fetal Stomach	stomach
50	chr9:93602200-93602600	Enhancers	Lung	lung

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