Variant report

Variant	esv14762
Chromosome Location	chr9:93603341-93605009
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:93603689..93605375-chr9:93607023..93609459,2	K562	blood:

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

Extended variants
information (count: 125 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:125 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs567520657	chr9:93603350-93603351	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs58583731	chr9:93603354-93603355	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs536417669	chr9:93603370-93603371	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs546703023	chr9:93603385-93603386	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs111882771	chr9:93603387-93603388	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs375044496	chr9:93603394-93603395	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs566657135	chr9:93603428-93603429	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
8	rs568997948	chr9:93603437-93603438	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
9	rs539099917	chr9:93603451-93603452	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
10	rs558727538	chr9:93603455-93603456	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
11	rs575585233	chr9:93603472-93603473	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
12	rs376273153	chr9:93603483-93603484	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
13	rs187469019	chr9:93603502-93603503	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
14	rs554858085	chr9:93603507-93603508	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
15	rs574708298	chr9:93603539-93603540	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
16	rs200616692	chr9:93603559-93603560	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
17	rs201059161	chr9:93603560-93603561	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
18	rs540396300	chr9:93603585-93603586	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
19	rs557737291	chr9:93603589-93603590	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
20	rs560376207	chr9:93603597-93603598	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	lncRNA	n/a	Overlapped CNVs	n/a
21	rs529521858	chr9:93603609-93603610	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
22	rs200400857	chr9:93603610-93603611	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
23	rs576895955	chr9:93603628-93603629	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
24	rs545883730	chr9:93603633-93603634	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
25	rs11793487	chr9:93603639-93603640	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
26	rs111207153	chr9:93603662-93603663	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
27	rs531288468	chr9:93603675-93603676	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
28	rs56006363	chr9:93603677-93603678	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
29	rs55881747	chr9:93603679-93603680	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
30	rs56240642	chr9:93603683-93603684	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
31	rs386736220	chr9:93603699-93603700	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
32	rs201663330	chr9:93603701-93603702	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
33	rs55944607	chr9:93603702-93603703	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
34	rs201422128	chr9:93603709-93603710	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
35	rs12156534	chr9:93603711-93603712	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
36	rs200456448	chr9:93603724-93603725	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
37	rs561211180	chr9:93603739-93603740	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
38	rs111216704	chr9:93603744-93603745	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
39	rs530312298	chr9:93603759-93603760	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
40	rs546817083	chr9:93603770-93603771	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
41	rs567050199	chr9:93603783-93603784	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
42	rs532538499	chr9:93603800-93603801	ZNF genes & repeats Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
43	rs192073656	chr9:93603802-93603803	ZNF genes & repeats Weak transcription Enhancers Strong transcription Genic enhancers Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
44	rs199668251	chr9:93603819-93603820	ZNF genes & repeats Weak transcription Enhancers Strong transcription Genic enhancers Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
45	rs141069100	chr9:93603839-93603840	ZNF genes & repeats Weak transcription Enhancers Strong transcription Genic enhancers Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
46	rs56651623	chr9:93603841-93603842	ZNF genes & repeats Weak transcription Enhancers Strong transcription Genic enhancers Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
47	rs200948975	chr9:93603853-93603854	ZNF genes & repeats Weak transcription Enhancers Strong transcription Genic enhancers Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
48	rs538091460	chr9:93603868-93603869	ZNF genes & repeats Weak transcription Enhancers Strong transcription Genic enhancers Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
49	rs577596699	chr9:93603871-93603872	ZNF genes & repeats Weak transcription Enhancers Strong transcription Genic enhancers Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
50	rs569161164	chr9:93603882-93603883	ZNF genes & repeats Weak transcription Enhancers Strong transcription Genic enhancers Active TSS	lncRNA	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:98 , 50 per page) page: 1 2

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	chr9:93593600-93603400	Genic enhancers	Primary B cells from peripheral blood	blood
7	chr9:93595800-93606600	Weak transcription	Stomach Mucosa	stomach
8	chr9:93596000-93607600	Weak transcription	Fetal Intestine Large	intestine
9	chr9:93598200-93606600	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr9:93599200-93616600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr9:93599800-93603400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chr9:93600200-93606400	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr9:93600200-93613800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr9:93601000-93603400	Weak transcription	Fetal Lung	lung
15	chr9:93601000-93603400	Weak transcription	Gastric	stomach
16	chr9:93601600-93604800	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr9:93601800-93642200	Weak transcription	Rectal Smooth Muscle	rectum
18	chr9:93602000-93606600	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr9:93602200-93603600	Enhancers	GM12878-XiMat	blood
20	chr9:93602200-93604200	Weak transcription	Thymus	Thymus
21	chr9:93602200-93605400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr9:93602400-93603400	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr9:93602400-93604200	Weak transcription	Primary hematopoietic stem cells	blood
24	chr9:93602400-93606000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr9:93602600-93603400	Enhancers	Fetal Muscle Leg	muscle
26	chr9:93602600-93603600	Weak transcription	Primary neutrophils fromperipheralblood	blood
27	chr9:93602600-93604400	Weak transcription	Duodenum Mucosa	Duodenum
28	chr9:93602600-93604600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr9:93602600-93606000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr9:93602600-93606000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr9:93602600-93606000	Weak transcription	Fetal Intestine Small	intestine
32	chr9:93602600-93609200	Weak transcription	Right Ventricle	heart
33	chr9:93602800-93604400	Weak transcription	Fetal Thymus	thymus
34	chr9:93602800-93604800	Strong transcription	Primary B cells from cord blood	blood
35	chr9:93602800-93605400	Weak transcription	Fetal Stomach	stomach
36	chr9:93603200-93603400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr9:93603200-93603400	Enhancers	Spleen	Spleen
38	chr9:93603200-93604600	Genic enhancers	Esophagus	oesophagus
39	chr9:93603200-93604800	ZNF genes & repeats	NHEK	skin
40	chr9:93603200-93605000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr9:93603200-93605000	ZNF genes & repeats	Fetal Kidney	kidney
42	chr9:93603200-93605000	Enhancers	Pancreas	Pancrea
43	chr9:93603200-93605400	Enhancers	Monocytes-CD14+_RO01746	blood
44	chr9:93603200-93605600	Enhancers	Primary monocytes fromperipheralblood	blood
45	chr9:93603400-93603600	Flanking Bivalent TSS/Enh	Fetal Lung	lung
46	chr9:93603400-93603600	Enhancers	Gastric	stomach
47	chr9:93603400-93603600	Enhancers	Skeletal Muscle Female	skeletal muscle
48	chr9:93603400-93604000	Strong transcription	K562	blood
49	chr9:93603400-93604400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr9:93603400-93604600	Enhancers	Primary B cells from peripheral blood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links