Variant report

Variant	nsv1047164
Chromosome Location	chr9:118286742-118456851
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:25)
LncRNA
region (count:27)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:25 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:118332824..118334769-chr9:118337363..118339867,2	K562	blood:
2	chr9:118296994..118298706-chr9:118305730..118308270,2	K562	blood:
3	chr9:118382226..118384987-chr9:118388339..118391664,3	MCF-7	breast:
4	chr9:117776404..117777930-chr9:118286444..118287425,4	MCF-7	breast:
5	chr9:118353398..118354353-chr9:119423269..119423966,2	MCF-7	breast:
6	chr9:118313061..118314706-chr9:118831781..118833432,2	MCF-7	breast:
7	chr9:117443932..117444479-chr9:118286459..118287036,2	MCF-7	breast:
8	chr9:118346081..118348622-chr9:118350631..118353525,2	MCF-7	breast:
9	chr9:118357640..118358284-chr9:119334212..119334746,2	MCF-7	breast:
10	chr9:118382226..118384987-chr9:118388339..118391664,3	MCF-7	breast:
11	chr9:117988097..117989116-chr9:118286127..118287416,14	MCF-7	breast:
12	chr9:118332824..118334769-chr9:118337363..118339867,2	K562	blood:
13	chr9:118355902..118356600-chr9:119423587..119424574,2	MCF-7	breast:
14	chr6:97207001..97207610-chr9:118454286..118454887,2	MCF-7	breast:
15	chr9:117988130..117988677-chr9:118286316..118287411,4	MCF-7	breast:
16	chr9:118296994..118298706-chr9:118305730..118308270,2	K562	blood:
17	chr9:118355620..118356478-chr9:119334134..119334708,4	MCF-7	breast:
18	chr9:118456131..118456772-chr9:119334489..119335209,2	MCF-7	breast:
19	chr9:118346081..118348622-chr9:118350631..118353525,2	MCF-7	breast:
20	chr9:118364883..118366528-chr9:118368229..118369775,2	K562	blood:
21	chr9:118355579..118356098-chr9:118645880..118646443,2	MCF-7	breast:
22	chr9:118355882..118356453-chr9:119409217..119410111,2	MCF-7	breast:
23	chr9:118455999..118456785-chr9:118645700..118646640,3	MCF-7	breast:
24	chr9:118355052..118356699-chr9:119256698..119257676,4	MCF-7	breast:
25	chr9:118364883..118366528-chr9:118368229..118369775,2	K562	blood:

(count:27 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DEC1-1	chr9:118354210-118354302	ucscGeneNc_uc004bju_1
2	lnc-DEC1-1	chr9:118352079-118353358	ENSG00000197486
3	lnc-DEC1-3	chr9:118427115-118427216	XLOC_007531
4	lnc-DEC1-3	chr9:118454048-118454445	XLOC_007531
5	lnc-DEC1-1	chr9:118353087-118353193	ucscGeneNc_uc004bju_1
6	lnc-DEC1-2	chr9:118358893-118359024	XLOC_007530
7	lnc-DEC1-3	chr9:118454048-118454445	XLOC_007531
8	lnc-DEC1-2	chr9:118365137-118365964	XLOC_007530
9	lnc-DEC1-3	chr9:118427882-118427944	XLOC_007531
10	lnc-DEC1-1	chr9:118347849-118347927	ucscGeneNc_uc004bju_1
11	lnc-DEC1-3	chr9:118426662-118426755	XLOC_007531
12	lnc-DEC1-1	chr9:118349414-118349534	ucscGeneNc_uc004bju_1
13	lnc-DEC1-3	chr9:118426662-118426755	XLOC_007531
14	lnc-DEC1-3	chr9:118427115-118427216	XLOC_007531
15	lnc-DEC1-1	chr9:118349637-118349782	ucscGeneNc_uc004bju_1
16	lnc-DEC1-1	chr9:118306383-118306444	ucscGeneNc_uc004bju_1
17	lnc-DEC1-1	chr9:118359707-118359750	ucscGeneNc_uc004bju_1
18	lnc-DEC1-2	chr9:118359308-118359388	XLOC_007530
19	lnc-DEC1-1	chr9:118364099-118364393	ucscGeneNc_uc004bju_1
20	lnc-DEC1-3	chr9:118426646-118426755	NONHSAT134416
21	lnc-DEC1-1	chr9:118348649-118348799	ucscGeneNc_uc004bju_1
22	lnc-DEC1-1	chr9:118342540-118342839	ucscGeneNc_uc004bju_1
23	lnc-TNC-5	chr9:118442185-118442248	NONHSAT134420
24	lnc-TNC-3	chr9:118369851-118370463	XLOC_007835
25	lnc-DEC1-3	chr9:118427115-118427221	NONHSAT134416
26	lnc-DEC1-1	chr9:118345773-118345941	ucscGeneNc_uc004bju_1
27	lnc-DEC1-1	chr9:118348052-118348240	ucscGeneNc_uc004bju_1

No data

Variant related genes	Relation type
ELOVL5	miRNA target sites

Extended variants
information (count: 5194 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:5194 , 50 per page) page: 1 2 3 4 5 6 7 ... 104

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10124639	chr9:118286742-118286743	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs570178561	chr9:118286789-118286790	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs535827718	chr9:118286795-118286796	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs555832452	chr9:118286799-118286800	Weak transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs10124673	chr9:118286802-118286803	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs535052840	chr9:118286807-118286808	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs558428104	chr9:118286905-118286906	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs552529309	chr9:118286949-118286950	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs182804672	chr9:118286952-118286953	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs571013863	chr9:118286954-118286955	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs199917360	chr9:118286966-118286967	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs543621646	chr9:118286968-118286969	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs148798888	chr9:118287007-118287008	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs117973284	chr9:118287019-118287020	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs113021710	chr9:118287102-118287103	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs376773995	chr9:118287108-118287109	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs188230914	chr9:118287117-118287118	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs528386111	chr9:118287118-118287119	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs375414284	chr9:118287193-118287194	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs556199390	chr9:118287205-118287206	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs192515449	chr9:118287232-118287233	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs144784949	chr9:118287237-118287238	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs530689786	chr9:118287280-118287281	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs147928108	chr9:118287283-118287284	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs141803480	chr9:118287317-118287318	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs184375160	chr9:118287341-118287342	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs560843300	chr9:118287479-118287480	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs189603401	chr9:118287488-118287489	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs7033617	chr9:118287508-118287509	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs558130552	chr9:118287516-118287517	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs571927615	chr9:118287517-118287518	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs7033287	chr9:118287525-118287526	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs375426364	chr9:118287534-118287535	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs573394558	chr9:118287570-118287571	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs542363083	chr9:118287623-118287624	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs55806800	chr9:118287634-118287635	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs572712150	chr9:118287652-118287653	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs545005774	chr9:118287709-118287710	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs565005227	chr9:118287726-118287727	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs530860906	chr9:118287727-118287728	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs544410655	chr9:118287736-118287737	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs561111822	chr9:118287752-118287753	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs529916750	chr9:118287781-118287782	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs549165609	chr9:118287806-118287807	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs145428565	chr9:118287828-118287829	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs528445328	chr9:118287829-118287830	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs77627694	chr9:118287843-118287844	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs571594980	chr9:118287886-118287887	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs77665414	chr9:118288005-118288006	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs550761194	chr9:118288012-118288013	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

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
Breast cancer	21509527	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Cervical cancer	16585170	CNVD
Ependymoma	19289631	CNVD
Schizophrenia	18940311	CNVD
Neuroticism	17667963	CNVD
Cervical cancer	17311676	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Neurodevelopmental disorder	0	CNVD
Intellectual disability	21811512	CNVD
Schizophrenia	20838587	CNVD
Breast cancer	22522925	CNVD
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:1208 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:118277000-118292400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr9:118282800-118286800	Enhancers	Fetal Muscle Leg	muscle
3	chr9:118283200-118291200	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr9:118284400-118288000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr9:118285200-118289200	Enhancers	Fetal Lung	lung
6	chr9:118285400-118314600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr9:118286000-118288400	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr9:118286400-118286800	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr9:118286400-118286800	Enhancers	Fetal Kidney	kidney
10	chr9:118286400-118287200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr9:118286400-118288000	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr9:118286400-118288400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr9:118286400-118288400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr9:118286400-118288400	Enhancers	Rectal Smooth Muscle	rectum
15	chr9:118286400-118289200	Enhancers	Colon Smooth Muscle	Colon
16	chr9:118286400-118289200	Enhancers	Duodenum Smooth Muscle	Duodenum
17	chr9:118286600-118286800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr9:118286600-118286800	Genic enhancers	HUES6 Cell Line	embryonic stem cell
19	chr9:118286600-118286800	Genic enhancers	HUES64 Cell Line	embryonic stem cell
20	chr9:118286600-118286800	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr9:118286600-118287000	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr9:118286600-118287000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr9:118286600-118287000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr9:118286600-118287000	Enhancers	Adipose Nuclei	Adipose
25	chr9:118286600-118287000	Enhancers	Aorta	Aorta
26	chr9:118286600-118287000	Enhancers	Placenta Amnion	Placenta Amnion
27	chr9:118286600-118287000	Flanking Active TSS	Stomach Smooth Muscle	stomach
28	chr9:118286600-118287000	Flanking Active TSS	Osteobl	bone
29	chr9:118286600-118287200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr9:118286600-118287200	Enhancers	NHDF-Ad	bronchial
31	chr9:118286600-118287800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr9:118286600-118287800	Enhancers	NH-A	brain
33	chr9:118286600-118288400	Enhancers	Fetal Stomach	stomach
34	chr9:118286800-118287200	Flanking Active TSS	Fetal Kidney	kidney
35	chr9:118286800-118287200	Enhancers	HMEC	breast
36	chr9:118286800-118289600	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr9:118286800-118293000	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr9:118287000-118287200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr9:118287000-118287200	Enhancers	Brain Inferior Temporal Lobe	brain
40	chr9:118287000-118288000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr9:118287000-118288000	Enhancers	Stomach Smooth Muscle	stomach
42	chr9:118287000-118288000	Enhancers	Osteobl	bone
43	chr9:118287200-118288000	Weak transcription	NHDF-Ad	bronchial
44	chr9:118287200-118288200	Enhancers	Fetal Kidney	kidney
45	chr9:118288000-118288200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr9:118288000-118288200	Enhancers	NHDF-Ad	bronchial
47	chr9:118288000-118293200	Weak transcription	Osteobl	bone
48	chr9:118288200-118288600	Weak transcription	NHDF-Ad	bronchial
49	chr9:118288400-118288800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr9:118288400-118293200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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