Variant report

Variant	nsv613645
Chromosome Location	chr9:14687455-14690419
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	chr9:14686674..14691236-chr9:14691548..14694778,7	MCF-7	breast:
2	chr9:14685829..14688724-chr9:14693473..14695940,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CER1-1	chr9:14690335-14690383	NONHSAT130254

Variant related genes	Relation type
ENSG00000175893	chromatin interactions

Extended variants
information (count: 160 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:160 , 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	rs574849358	chr9:14687461-14687462	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs534267514	chr9:14687478-14687479	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs184161527	chr9:14687497-14687498	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs528866124	chr9:14687534-14687535	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs376648120	chr9:14687537-14687538	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs138664225	chr9:14687538-14687539	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs546161838	chr9:14687551-14687552	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs199902434	chr9:14687576-14687577	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs562770401	chr9:14687577-14687578	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs115891803	chr9:14687592-14687593	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs80109233	chr9:14687593-14687594	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs541647090	chr9:14687600-14687601	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs186995935	chr9:14687615-14687616	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs10961671	chr9:14687650-14687651	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs534203769	chr9:14687656-14687657	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs145103704	chr9:14687678-14687679	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs547424365	chr9:14687702-14687703	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs145260595	chr9:14687704-14687705	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs532762186	chr9:14687772-14687773	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs552478850	chr9:14687798-14687799	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs56156786	chr9:14687843-14687844	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs191822464	chr9:14687864-14687865	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs7865184	chr9:14687867-14687868	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs539651322	chr9:14687876-14687877	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs137860943	chr9:14687985-14687986	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs4316232	chr9:14687991-14687992	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs534042325	chr9:14687998-14687999	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs202116075	chr9:14688001-14688002	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs142459303	chr9:14688004-14688005	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs183671414	chr9:14688006-14688007	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs539824224	chr9:14688011-14688012	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs143980269	chr9:14688084-14688085	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs576274861	chr9:14688111-14688112	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs34072998	chr9:14688115-14688116	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs397763587	chr9:14688120-14688121	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs542080292	chr9:14688123-14688124	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs561737987	chr9:14688128-14688129	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs565896983	chr9:14688142-14688143	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs535426267	chr9:14688156-14688157	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs189272029	chr9:14688204-14688205	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs563815433	chr9:14688259-14688260	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs572433823	chr9:14688290-14688291	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs148217364	chr9:14688294-14688295	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs549381146	chr9:14688315-14688316	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs562913159	chr9:14688319-14688320	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs531911849	chr9:14688326-14688327	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs548820293	chr9:14688356-14688357	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs568599491	chr9:14688364-14688365	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs527885344	chr9:14688369-14688370	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs547941679	chr9:14688391-14688392	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:90)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
abnormal development	18461090	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Breast cancer	16608533	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Cervical cancer	21063398	CNVD
Retinoblastoma	22278416	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Melanoma	18172304	CNVD
Biliary cancer	19435499	CNVD
Gastric cancer	21586687	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myopathy	18421352	CNVD
Neuroblastoma	18664255	CNVD
Acute lymphoblastic leukemia	18957548	CNVD
Myeloproliferative neoplasm	17564968	CNVD
Malignant meningioma	17937814	CNVD
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oligodendroglial tumors	17285580	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
microdeletion syndrome	16199537	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164919	CNVD
Chronic myeloid leukemia	21384125	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21785460	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	21668985	CNVD
Myelodysplastic syndrome	21251322	CNVD
Autism	22495311	CNVD
Hepatocellular carcinoma	18803288	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	16573809	CNVD
Metanephric adenoma	20802469	CNVD
Developmental delay	21147756	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pilocytic astrocytoma	18670637	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Melanoma	22183965	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21611746	CNVD
Glycine encephalopathy	21572526	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Non-small cell lung cancer	19010865	CNVD
Myoepithelioma	18604193	CNVD
early-passage human iPS cells	21368824	CNVD
Glioblastoma multiforme	18628472	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:223 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:14631000-14692400	Weak transcription	HSMMtube	muscle
2	chr9:14634600-14692400	Weak transcription	Gastric	stomach
3	chr9:14634600-14692600	Weak transcription	Aorta	Aorta
4	chr9:14654200-14692600	Weak transcription	Pancreas	Pancrea
5	chr9:14655200-14690600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr9:14655400-14689200	Weak transcription	Rectal Smooth Muscle	rectum
7	chr9:14655400-14690600	Weak transcription	Brain Angular Gyrus	brain
8	chr9:14655400-14690600	Weak transcription	Fetal Kidney	kidney
9	chr9:14655400-14691000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr9:14655400-14691400	Weak transcription	A549	lung
11	chr9:14655400-14692200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr9:14655600-14688200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr9:14655600-14692200	Weak transcription	Fetal Lung	lung
14	chr9:14655800-14692200	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr9:14656000-14692400	Weak transcription	Colonic Mucosa	Colon
16	chr9:14656200-14692400	Weak transcription	Primary T cells from cord blood	blood
17	chr9:14657000-14692600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr9:14658600-14688800	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr9:14659600-14692400	Weak transcription	Colon Smooth Muscle	Colon
20	chr9:14660200-14691000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr9:14663200-14689400	Weak transcription	Brain Cingulate Gyrus	brain
22	chr9:14663400-14692000	Weak transcription	Brain Substantia Nigra	brain
23	chr9:14668600-14689400	Weak transcription	Fetal Thymus	thymus
24	chr9:14670800-14692200	Weak transcription	NHLF	lung
25	chr9:14671200-14692000	Weak transcription	HepG2	liver
26	chr9:14671600-14692200	Weak transcription	NHEK	skin
27	chr9:14671800-14688200	Weak transcription	Esophagus	oesophagus
28	chr9:14672600-14692400	Weak transcription	Small Intestine	intestine
29	chr9:14672800-14689000	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr9:14672800-14692200	Weak transcription	Stomach Smooth Muscle	stomach
31	chr9:14675400-14692400	Weak transcription	Ovary	ovary
32	chr9:14676800-14692200	Weak transcription	Fetal Brain Female	brain
33	chr9:14678400-14690800	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr9:14678800-14692200	Weak transcription	Liver	Liver
35	chr9:14679200-14688800	Weak transcription	Brain Germinal Matrix	brain
36	chr9:14679200-14691000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr9:14680200-14692200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr9:14681400-14690400	Weak transcription	Primary T helper cells PMA-I stimulated	--
39	chr9:14681400-14692600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr9:14681800-14689000	Weak transcription	Primary hematopoietic stem cells	blood
41	chr9:14681800-14689200	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr9:14681800-14691000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr9:14681800-14692200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr9:14682000-14692600	Weak transcription	Spleen	Spleen
45	chr9:14683000-14688200	Weak transcription	Duodenum Mucosa	Duodenum
46	chr9:14685000-14692400	Weak transcription	Right Ventricle	heart
47	chr9:14685800-14687600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr9:14685800-14690200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
49	chr9:14685800-14690400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr9:14685800-14690400	Strong transcription	Fetal Muscle Leg	muscle

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