Variant report

Variant	nsv8420
Chromosome Location	chr9:12725200-12750151
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:10)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:12722041..12725292-chr9:12774361..12778280,6	MCF-7	breast:
2	chr9:12729225..12731478-chr9:12790178..12792905,2	MCF-7	breast:
3	chr9:12748565..12752577-chr9:12774636..12778893,4	MCF-7	breast:
4	chr9:12723856..12726602-chr9:12884690..12886916,2	MCF-7	breast:
5	chr9:12737180..12738894-chr9:12739213..12741322,2	MCF-7	breast:
6	chr9:12737180..12738894-chr9:12739213..12741322,2	MCF-7	breast:
7	chr9:12733476..12735004-chr9:12774992..12776567,2	MCF-7	breast:
8	chr9:12728162..12729688-chr9:12774800..12776867,2	MCF-7	breast:
9	chr9:12736141..12737643-chr9:12774520..12776197,2	MCF-7	breast:
10	chr9:12732393..12734244-chr9:12774652..12776497,2	MCF-7	breast:

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

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

No data

Variant related genes	Relation type
ENSG00000222658	chromatin interactions
ENSG00000153714	chromatin interactions

Extended variants
information (count: 1270 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:1270 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs376570828	chr9:12725217-12725218	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs531386306	chr9:12725231-12725232	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs10756396	chr9:12725277-12725278	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs139508132	chr9:12725295-12725296	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs533878721	chr9:12725327-12725328	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs185451636	chr9:12725328-12725329	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs368265577	chr9:12725365-12725366	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs538640170	chr9:12725392-12725393	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs142791818	chr9:12725485-12725486	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs575338634	chr9:12725494-12725495	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs10960761	chr9:12725532-12725533	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs367826013	chr9:12725546-12725547	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs574952317	chr9:12725587-12725588	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs11794202	chr9:12725593-12725594	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs7350190	chr9:12725644-12725645	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs560828387	chr9:12725680-12725681	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs116346408	chr9:12725733-12725734	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs187924156	chr9:12725741-12725742	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs562439064	chr9:12725835-12725836	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs572178439	chr9:12725851-12725852	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs541931811	chr9:12725921-12725922	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs561762894	chr9:12725942-12725943	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs534533614	chr9:12725970-12725971	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs78552947	chr9:12725986-12725987	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs192971009	chr9:12726031-12726032	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs113592777	chr9:12726050-12726051	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs184207527	chr9:12726051-12726052	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs10960762	chr9:12726054-12726055	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs543013518	chr9:12726063-12726064	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs369063764	chr9:12726079-12726080	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs568880741	chr9:12726087-12726088	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs79285379	chr9:12726120-12726121	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs148747703	chr9:12726137-12726138	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs201596717	chr9:12726141-12726142	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs553142930	chr9:12726190-12726191	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs534411503	chr9:12726204-12726205	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs188222571	chr9:12726227-12726228	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs577633912	chr9:12726243-12726244	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs546484906	chr9:12726307-12726308	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs181763360	chr9:12726324-12726325	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs112493083	chr9:12726358-12726359	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs12001964	chr9:12726413-12726414	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs542676837	chr9:12726431-12726432	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs138752305	chr9:12726437-12726438	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs184729955	chr9:12726438-12726439	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs370160358	chr9:12726439-12726440	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs35317232	chr9:12726440-12726441	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs34238052	chr9:12726441-12726442	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs372444625	chr9:12726467-12726468	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs10809829	chr9:12726483-12726484	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	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:79 , 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	chr9:12723800-12726000	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr9:12725000-12727000	Weak transcription	Fetal Lung	lung
4	chr9:12725000-12728000	Weak transcription	A549	lung
5	chr9:12726000-12726200	Enhancers	Rectal Mucosa Donor 31	rectum
6	chr9:12726200-12726600	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr9:12726600-12727000	Enhancers	Duodenum Mucosa	Duodenum
8	chr9:12726600-12727200	Enhancers	Fetal Intestine Small	intestine
9	chr9:12726600-12727200	Enhancers	Rectal Mucosa Donor 31	rectum
10	chr9:12726600-12727400	Enhancers	Stomach Mucosa	stomach
11	chr9:12727000-12729200	Enhancers	Fetal Lung	lung
12	chr9:12728000-12728200	Enhancers	A549	lung
13	chr9:12729200-12729600	Flanking Active TSS	Fetal Lung	lung
14	chr9:12729200-12729600	Active TSS	NHLF	lung
15	chr9:12729600-12731600	Enhancers	Fetal Lung	lung
16	chr9:12730400-12730800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr9:12730400-12731000	Enhancers	HUVEC	blood vessel
18	chr9:12731600-12732000	Flanking Active TSS	Fetal Lung	lung
19	chr9:12732000-12732600	Enhancers	Fetal Lung	lung
20	chr9:12732600-12736000	Weak transcription	Fetal Lung	lung
21	chr9:12734800-12736800	Enhancers	GM12878-XiMat	blood
22	chr9:12736000-12736200	Enhancers	Fetal Lung	lung
23	chr9:12736200-12737400	Weak transcription	Fetal Lung	lung
24	chr9:12737400-12739200	Enhancers	Fetal Lung	lung
25	chr9:12737400-12739400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr9:12737600-12737800	Enhancers	Fetal Muscle Leg	muscle
27	chr9:12737600-12738400	Enhancers	HSMMtube	muscle
28	chr9:12737600-12741000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr9:12737800-12738000	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr9:12737800-12739400	Enhancers	NHDF-Ad	bronchial
31	chr9:12737800-12741200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr9:12738000-12738600	Enhancers	Fetal Kidney	kidney
33	chr9:12738000-12738800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr9:12738400-12738600	Enhancers	Fetal Muscle Leg	muscle
35	chr9:12738600-12739600	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chr9:12738800-12739600	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr9:12739000-12739200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr9:12739000-12739400	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr9:12739000-12739600	Enhancers	Osteobl	bone
40	chr9:12739000-12741200	Enhancers	HMEC	breast
41	chr9:12739200-12739400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr9:12739200-12739600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr9:12739200-12739600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr9:12739200-12739600	Enhancers	Fetal Intestine Small	intestine
45	chr9:12739200-12740200	Weak transcription	Fetal Lung	lung
46	chr9:12739200-12741000	Enhancers	Muscle Satellite Cultured Cells	--
47	chr9:12739200-12741400	Enhancers	NHEK	skin
48	chr9:12739400-12740000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr9:12739400-12740800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr9:12739600-12740000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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