Variant report

Variant	esv2757318
Chromosome Location	chr9:12721881-12758881
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:16)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:12733476..12735004-chr9:12774992..12776567,2	MCF-7	breast:
2	chr9:12723429..12724424-chr9:12884471..12885741,6	MCF-7	breast:
3	chr9:12732393..12734244-chr9:12774652..12776497,2	MCF-7	breast:
4	chr9:12723685..12724314-chr9:12988034..12988919,3	MCF-7	breast:
5	chr9:12750217..12752763-chr9:12757622..12759170,2	MCF-7	breast:
6	chr9:12752690..12755433-chr9:12775370..12778156,2	MCF-7	breast:
7	chr9:12723451..12724539-chr9:12884675..12885414,3	MCF-7	breast:
8	chr9:12750217..12752763-chr9:12757622..12759170,2	MCF-7	breast:
9	chr9:12722041..12725292-chr9:12774361..12778280,6	MCF-7	breast:
10	chr9:12737180..12738894-chr9:12739213..12741322,2	MCF-7	breast:
11	chr9:12748565..12752577-chr9:12774636..12778893,4	MCF-7	breast:
12	chr9:12736141..12737643-chr9:12774520..12776197,2	MCF-7	breast:
13	chr9:12728162..12729688-chr9:12774800..12776867,2	MCF-7	breast:
14	chr9:12723856..12726602-chr9:12884690..12886916,2	MCF-7	breast:
15	chr9:12729225..12731478-chr9:12790178..12792905,2	MCF-7	breast:
16	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
ENSG00000222658	chromatin interactions

Extended variants
information (count: 1846 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:1846 , 50 per page) page: 1 2 3 4 5 6 7 ... 37

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13288681	chr9:12721881-12721882	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs184448144	chr9:12721901-12721902	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs532846148	chr9:12721931-12721932	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs187592099	chr9:12721941-12721942	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs569428206	chr9:12721943-12721944	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs115238467	chr9:12722003-12722004	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs202233936	chr9:12722065-12722066	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs200218692	chr9:12722066-12722067	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs144379619	chr9:12722112-12722113	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs370521727	chr9:12722134-12722135	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs74347542	chr9:12722146-12722147	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs191659268	chr9:12722182-12722183	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs527680225	chr9:12722211-12722212	Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs1326798	chr9:12722227-12722228	Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs570934198	chr9:12722234-12722235	Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs539502980	chr9:12722237-12722238	Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs556818285	chr9:12722246-12722247	Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs548793489	chr9:12722252-12722253	Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs540410504	chr9:12722283-12722284	Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs536191287	chr9:12722312-12722313	Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs372816090	chr9:12722318-12722319	Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs7871257	chr9:12722357-12722358	Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs571995411	chr9:12722364-12722365	Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs541029329	chr9:12722405-12722406	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs370121317	chr9:12722413-12722414	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs557419385	chr9:12722436-12722437	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs184804533	chr9:12722452-12722453	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs577686653	chr9:12722463-12722464	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs543076839	chr9:12722505-12722506	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs563176751	chr9:12722511-12722512	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs534463060	chr9:12722514-12722515	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs374555021	chr9:12722520-12722521	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs190033947	chr9:12722590-12722591	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs542559238	chr9:12722617-12722618	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs559211675	chr9:12722624-12722625	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs554171367	chr9:12722632-12722633	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs528336056	chr9:12722696-12722697	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs148803732	chr9:12722729-12722730	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs180824797	chr9:12722760-12722761	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs557380050	chr9:12722804-12722805	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs533482580	chr9:12722858-12722859	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs550285196	chr9:12722863-12722864	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs570830871	chr9:12722903-12722904	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs184622435	chr9:12722964-12722965	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs536055599	chr9:12722983-12722984	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs549739530	chr9:12723011-12723012	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs141396774	chr9:12723014-12723015	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs146304769	chr9:12723022-12723023	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs557747711	chr9:12723033-12723034	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs116099105	chr9:12723037-12723038	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:100)

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
Breast cancer	22522925	CNVD
Renal cell carcinoma	21215367	CNVD

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:12711200-12722400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr9:12718800-12722200	Weak transcription	HMEC	breast
3	chr9:12719200-12722000	Weak transcription	Fetal Lung	lung
4	chr9:12719200-12740400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr9:12719400-12722000	Weak transcription	Osteobl	bone
6	chr9:12719600-12722000	Weak transcription	NHEK	skin
7	chr9:12720800-12722400	Enhancers	Psoas Muscle	Psoas
8	chr9:12720800-12724400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr9:12721200-12723200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr9:12721400-12722400	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr9:12721400-12723800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr9:12721600-12723800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr9:12721800-12722000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr9:12721800-12722200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr9:12722000-12722400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr9:12722000-12722400	Enhancers	NHEK	skin
17	chr9:12722000-12722600	Enhancers	Fetal Lung	lung
18	chr9:12722000-12723800	Enhancers	Osteobl	bone
19	chr9:12722200-12722400	Enhancers	HMEC	breast
20	chr9:12722200-12722600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr9:12722400-12722800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr9:12722400-12722800	Flanking Active TSS	NHEK	skin
23	chr9:12722400-12723200	Weak transcription	HMEC	breast
24	chr9:12722400-12723600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr9:12722400-12723800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr9:12722600-12722800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr9:12722600-12723000	Weak transcription	Fetal Lung	lung
28	chr9:12722600-12725000	Enhancers	A549	lung
29	chr9:12722800-12723800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr9:12722800-12723800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr9:12722800-12723800	Enhancers	NHDF-Ad	bronchial
32	chr9:12722800-12724400	Enhancers	NHEK	skin
33	chr9:12723000-12725000	Enhancers	Fetal Lung	lung
34	chr9:12723200-12723600	Enhancers	Rectal Smooth Muscle	rectum
35	chr9:12723200-12723800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr9:12723200-12723800	Enhancers	Colon Smooth Muscle	Colon
37	chr9:12723200-12723800	Enhancers	Rectal Mucosa Donor 31	rectum
38	chr9:12723200-12723800	Enhancers	HMEC	breast
39	chr9:12723400-12723800	Enhancers	NHLF	lung
40	chr9:12723600-12723800	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr9:12723800-12726000	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr9:12725000-12727000	Weak transcription	Fetal Lung	lung
43	chr9:12725000-12728000	Weak transcription	A549	lung
44	chr9:12726000-12726200	Enhancers	Rectal Mucosa Donor 31	rectum
45	chr9:12726200-12726600	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr9:12726600-12727000	Enhancers	Duodenum Mucosa	Duodenum
47	chr9:12726600-12727200	Enhancers	Fetal Intestine Small	intestine
48	chr9:12726600-12727200	Enhancers	Rectal Mucosa Donor 31	rectum
49	chr9:12726600-12727400	Enhancers	Stomach Mucosa	stomach
50	chr9:12727000-12729200	Enhancers	Fetal Lung	lung

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