Variant report

Variant	nsv818690
Chromosome Location	chr9:12726962-12748962
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:8)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:12728162..12729688-chr9:12774800..12776867,2	MCF-7	breast:
2	chr9:12748565..12752577-chr9:12774636..12778893,4	MCF-7	breast:
3	chr9:12729225..12731478-chr9:12790178..12792905,2	MCF-7	breast:
4	chr9:12736141..12737643-chr9:12774520..12776197,2	MCF-7	breast:
5	chr9:12737180..12738894-chr9:12739213..12741322,2	MCF-7	breast:
6	chr9:12732393..12734244-chr9:12774652..12776497,2	MCF-7	breast:
7	chr9:12733476..12735004-chr9:12774992..12776567,2	MCF-7	breast:
8	chr9:12737180..12738894-chr9:12739213..12741322,2	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C9orf150-2	chr9:12728519-12728662	l_3734_chr9:12728518-12759537_heart
2	lnc-C9orf150-1	chr9:12738519-12738662	XLOC_007283

No data

Variant related genes	Relation type
ENSG00000153714	chromatin interactions

Extended variants
information (count: 1138 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:1138 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs992652	chr9:12726962-12726963	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs549423569	chr9:12726999-12727000	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs561898599	chr9:12727013-12727014	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs527819263	chr9:12727014-12727015	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs547552260	chr9:12727018-12727019	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs566075565	chr9:12727025-12727026	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs187104868	chr9:12727042-12727043	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs540030431	chr9:12727047-12727048	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs534796952	chr9:12727085-12727086	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs557579873	chr9:12727086-12727087	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs577508944	chr9:12727093-12727094	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs551107574	chr9:12727124-12727125	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs570368673	chr9:12727145-12727146	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs535747743	chr9:12727181-12727182	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs199533023	chr9:12727188-12727189	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs60562863	chr9:12727198-12727199	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs555360782	chr9:12727258-12727259	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs191085310	chr9:12727272-12727273	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs556856295	chr9:12727273-12727274	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs569345004	chr9:12727285-12727286	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs7466076	chr9:12727298-12727299	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs144226987	chr9:12727325-12727326	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs573544648	chr9:12727326-12727327	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs181474910	chr9:12727343-12727344	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs577277020	chr9:12727362-12727363	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs543214027	chr9:12727420-12727421	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs563113930	chr9:12727438-12727439	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs80204372	chr9:12727486-12727487	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs185170207	chr9:12727513-12727514	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs10756397	chr9:12727526-12727527	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs73647229	chr9:12727527-12727528	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs547911118	chr9:12727531-12727532	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs564582407	chr9:12727575-12727576	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs189883090	chr9:12727584-12727585	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs145496035	chr9:12727596-12727597	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs183215359	chr9:12727607-12727608	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs370634256	chr9:12727646-12727647	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs536183149	chr9:12727725-12727726	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs549392478	chr9:12727768-12727769	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs565707607	chr9:12727792-12727793	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs375293912	chr9:12727799-12727800	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs186412399	chr9:12727813-12727814	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs371695022	chr9:12727814-12727815	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs577338431	chr9:12727842-12727843	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs536713050	chr9:12727865-12727866	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs553167501	chr9:12727917-12727918	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs148853685	chr9:12727918-12727919	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs573732437	chr9:12727931-12727932	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs191171381	chr9:12727970-12727971	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs552982810	chr9:12728002-12728003	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:99)

Disease	PMID	Source
Disorders of sex development	21048976	CNVD
Honadal dysgenesis	21048976	CNVD
Medulloblastoma	21979893	CNVD
Lung cancer	16740712	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
abnormal development	18461090	CNVD
Glioblastoma multiforme	21080181	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
Myelofibrosis	22110671	CNVD
Glioblastoma	19074898	CNVD
Malignant melanoma	19074898	CNVD
Prostate cancer	16573809	CNVD
Metanephric adenoma	20802469	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	21764851	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioma	17123091	CNVD
Lung cancer	16773561	CNVD
Colorectal cancer	16272173	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Gastric cancer	16891809	CNVD
Mental retardation	17847001	CNVD
Cutaneous squamous cell carcinomas	17420988	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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	21611746	CNVD
Renal cell carcinoma	21215367	CNVD

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:12719200-12740400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr9:12725000-12727000	Weak transcription	Fetal Lung	lung
3	chr9:12725000-12728000	Weak transcription	A549	lung
4	chr9:12726600-12727000	Enhancers	Duodenum Mucosa	Duodenum
5	chr9:12726600-12727200	Enhancers	Fetal Intestine Small	intestine
6	chr9:12726600-12727200	Enhancers	Rectal Mucosa Donor 31	rectum
7	chr9:12726600-12727400	Enhancers	Stomach Mucosa	stomach
8	chr9:12727000-12729200	Enhancers	Fetal Lung	lung
9	chr9:12728000-12728200	Enhancers	A549	lung
10	chr9:12729200-12729600	Flanking Active TSS	Fetal Lung	lung
11	chr9:12729200-12729600	Active TSS	NHLF	lung
12	chr9:12729600-12731600	Enhancers	Fetal Lung	lung
13	chr9:12730400-12730800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr9:12730400-12731000	Enhancers	HUVEC	blood vessel
15	chr9:12731600-12732000	Flanking Active TSS	Fetal Lung	lung
16	chr9:12732000-12732600	Enhancers	Fetal Lung	lung
17	chr9:12732600-12736000	Weak transcription	Fetal Lung	lung
18	chr9:12734800-12736800	Enhancers	GM12878-XiMat	blood
19	chr9:12736000-12736200	Enhancers	Fetal Lung	lung
20	chr9:12736200-12737400	Weak transcription	Fetal Lung	lung
21	chr9:12737400-12739200	Enhancers	Fetal Lung	lung
22	chr9:12737400-12739400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr9:12737600-12737800	Enhancers	Fetal Muscle Leg	muscle
24	chr9:12737600-12738400	Enhancers	HSMMtube	muscle
25	chr9:12737600-12741000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr9:12737800-12738000	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr9:12737800-12739400	Enhancers	NHDF-Ad	bronchial
28	chr9:12737800-12741200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr9:12738000-12738600	Enhancers	Fetal Kidney	kidney
30	chr9:12738000-12738800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr9:12738400-12738600	Enhancers	Fetal Muscle Leg	muscle
32	chr9:12738600-12739600	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr9:12738800-12739600	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr9:12739000-12739200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr9:12739000-12739400	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr9:12739000-12739600	Enhancers	Osteobl	bone
37	chr9:12739000-12741200	Enhancers	HMEC	breast
38	chr9:12739200-12739400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr9:12739200-12739600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr9:12739200-12739600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr9:12739200-12739600	Enhancers	Fetal Intestine Small	intestine
42	chr9:12739200-12740200	Weak transcription	Fetal Lung	lung
43	chr9:12739200-12741000	Enhancers	Muscle Satellite Cultured Cells	--
44	chr9:12739200-12741400	Enhancers	NHEK	skin
45	chr9:12739400-12740000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr9:12739400-12740800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr9:12739600-12740000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr9:12739600-12740600	Weak transcription	Osteobl	bone
49	chr9:12739600-12740800	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr9:12740000-12741000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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