Variant report

Variant	nsv1042957
Chromosome Location	chr9:118153824-118313540
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:9)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:118313061..118314706-chr9:118831781..118833432,2	MCF-7	breast:
2	chr9:118296994..118298706-chr9:118305730..118308270,2	K562	blood:
3	chr9:118296994..118298706-chr9:118305730..118308270,2	K562	blood:
4	chr9:117443932..117444479-chr9:118286459..118287036,2	MCF-7	breast:
5	chr9:117776404..117777930-chr9:118286444..118287425,4	MCF-7	breast:
6	chr9:118172097..118173608-chr9:118174134..118175717,2	MCF-7	breast:
7	chr9:117988097..117989116-chr9:118286127..118287416,14	MCF-7	breast:
8	chr9:117988130..117988677-chr9:118286316..118287411,4	MCF-7	breast:
9	chr9:118172097..118173608-chr9:118174134..118175717,2	MCF-7	breast:

(count:6 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DEC1-1	chr9:118279334-118279475	ENSG00000197486
2	lnc-DEC1-6	chr9:118284992-118285098	NONHSAT134413
3	lnc-TNC-4	chr9:118198732-118199045	predAs_ge08_PAPPA_1
4	lnc-DEC1-6	chr9:118258510-118258849	NONHSAT134413
5	lnc-DEC1-1	chr9:118306383-118306444	ucscGeneNc_uc004bju_1
6	lnc-DEC1-1	chr9:118235807-118236059	ENSG00000197486

No data

Variant related genes	Relation type
DMXL2	miRNA target sites
CREBL2	miRNA target sites

Extended variants
information (count: 6150 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:6150 , 50 per page) page: 1 2 3 4 5 6 7 ... 123

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555511627	chr9:118153863-118153864	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs74413007	chr9:118153865-118153866	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs7038027	chr9:118153891-118153892	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs191004589	chr9:118153937-118153938	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs144087875	chr9:118153942-118153943	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs544428119	chr9:118153978-118153979	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs563016172	chr9:118154004-118154005	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs146489838	chr9:118154131-118154132	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs542172184	chr9:118154144-118154145	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs371421717	chr9:118154154-118154155	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs562267146	chr9:118154199-118154200	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs527890075	chr9:118154230-118154231	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs547512211	chr9:118154267-118154268	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs564210710	chr9:118154314-118154315	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs532941847	chr9:118154325-118154326	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs549777197	chr9:118154333-118154334	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs62577503	chr9:118154367-118154368	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs116447527	chr9:118154371-118154372	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs62577504	chr9:118154384-118154385	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs565493971	chr9:118154439-118154440	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs534556381	chr9:118154459-118154460	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs62577505	chr9:118154491-118154492	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs183200410	chr9:118154550-118154551	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs186015072	chr9:118154572-118154573	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs10123209	chr9:118154603-118154604	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs576366703	chr9:118154616-118154617	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs542461601	chr9:118154676-118154677	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs190390027	chr9:118154678-118154679	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs572667326	chr9:118154707-118154708	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs139849182	chr9:118154717-118154718	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs541680327	chr9:118154753-118154754	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs563620707	chr9:118154755-118154756	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs141488064	chr9:118154824-118154825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs559055039	chr9:118154870-118154871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs531510083	chr9:118154871-118154872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs535919429	chr9:118154874-118154875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs397786226	chr9:118154875-118154876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs202091485	chr9:118154876-118154877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs564148288	chr9:118154912-118154913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs149696042	chr9:118154957-118154958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs368206164	chr9:118154966-118154967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs543169980	chr9:118154987-118154988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs563256552	chr9:118155030-118155031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs528887114	chr9:118155038-118155039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs528009702	chr9:118155054-118155055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs577313490	chr9:118155064-118155065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs182560222	chr9:118155086-118155087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs551131184	chr9:118155117-118155118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs187678724	chr9:118155128-118155129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs79267792	chr9:118155132-118155133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

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
Amyotrophic lateral sclerosis	20685689	CNVD
Breast cancer	22522925	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Intellectual disability	21811512	CNVD
Schizophrenia	20838587	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:992 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:118150000-118155800	Weak transcription	Adipose Nuclei	Adipose
2	chr9:118150000-118158000	Weak transcription	Stomach Smooth Muscle	stomach
3	chr9:118153000-118154600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr9:118153400-118154600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr9:118153800-118154600	Enhancers	Fetal Kidney	kidney
6	chr9:118154000-118154200	Enhancers	NHDF-Ad	bronchial
7	chr9:118154000-118154800	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr9:118154200-118157600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr9:118154600-118155800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr9:118154600-118155800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr9:118154600-118161800	Weak transcription	Fetal Kidney	kidney
12	chr9:118154800-118159800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr9:118155200-118155600	Weak transcription	NHDF-Ad	bronchial
14	chr9:118155800-118158200	Enhancers	Adipose Nuclei	Adipose
15	chr9:118155800-118159000	Enhancers	NHDF-Ad	bronchial
16	chr9:118155800-118159400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr9:118155800-118159600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr9:118156000-118156800	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr9:118156000-118157600	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr9:118156200-118156400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr9:118156200-118156400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr9:118156200-118159000	Enhancers	NHEK	skin
23	chr9:118156200-118159200	Enhancers	HMEC	breast
24	chr9:118156400-118156600	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr9:118156400-118157000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr9:118156400-118157400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr9:118156600-118157200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr9:118156600-118157400	Enhancers	NH-A	brain
29	chr9:118156600-118158000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr9:118156600-118159200	Enhancers	Osteobl	bone
31	chr9:118156800-118158000	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr9:118156800-118159000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr9:118157000-118158600	Enhancers	A549	lung
34	chr9:118157000-118159200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr9:118157400-118157800	Enhancers	Brain Substantia Nigra	brain
36	chr9:118157400-118157800	Weak transcription	NH-A	brain
37	chr9:118157400-118162200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr9:118157600-118158000	Enhancers	Skeletal Muscle Male	skeletal muscle
39	chr9:118157600-118158200	Enhancers	Rectal Smooth Muscle	rectum
40	chr9:118157600-118159000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr9:118157600-118159000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
42	chr9:118157600-118159000	Enhancers	Fetal Lung	lung
43	chr9:118157600-118159200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr9:118157600-118160600	Enhancers	HUES6 Cell Line	embryonic stem cell
45	chr9:118157800-118158000	Enhancers	Fetal Stomach	stomach
46	chr9:118157800-118159000	Enhancers	HSMM	muscle
47	chr9:118157800-118159200	Enhancers	Fetal Muscle Leg	muscle
48	chr9:118157800-118159200	Enhancers	NH-A	brain
49	chr9:118158000-118158200	Enhancers	ES-I3 Cell Line	embryonic stem cell
50	chr9:118158000-118158200	Enhancers	Cortex derived primary cultured neurospheres	brain

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