Variant report

Variant	nsv1030557
Chromosome Location	chr9:12505018-12637189
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:0)
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	chr9:12615022..12617476-chr9:12617492..12619010,2	MCF-7	breast:
2	chr9:12631997..12633907-chr9:12634270..12637039,2	MCF-7	breast:
3	chr1:149223798..149224416-chr9:12526808..12527328,4	MCF-7	breast:
4	chr9:12607055..12609983-chr9:12671838..12674027,2	K562	blood:
5	chr9:12526692..12528486-chr9:12531576..12533111,2	MCF-7	breast:
6	chr9:12554435..12555308-chr9:12639713..12640600,2	MCF-7	breast:
7	chr9:12526692..12528486-chr9:12531576..12533111,2	MCF-7	breast:
8	chr9:12631997..12633907-chr9:12634270..12637039,2	MCF-7	breast:
9	chr9:12615022..12617476-chr9:12617492..12619010,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000206737	chromatin interactions

Extended variants
information (count: 1744 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:1744 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs551113287	chr9:12511636-12511637	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs567796433	chr9:12511638-12511639	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs532093954	chr9:12511696-12511697	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs377546257	chr9:12511699-12511700	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs544510207	chr9:12511708-12511709	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs553578437	chr9:12511714-12511715	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs566943252	chr9:12511726-12511727	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs115370211	chr9:12511730-12511731	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs558778914	chr9:12511811-12511812	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs574913533	chr9:12511834-12511835	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs561005090	chr9:12511903-12511904	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs145266999	chr9:12511990-12511991	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs189922721	chr9:12512027-12512028	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs555471562	chr9:12512037-12512038	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs181205867	chr9:12512047-12512048	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs539945715	chr9:12512072-12512073	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs560333124	chr9:12512086-12512087	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs574708715	chr9:12512128-12512129	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs147614173	chr9:12512165-12512166	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs73413433	chr9:12512167-12512168	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs536094423	chr9:12512187-12512188	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs142876445	chr9:12512191-12512192	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs531623092	chr9:12512205-12512206	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs1408802	chr9:12512207-12512208	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs559689173	chr9:12512216-12512217	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs561265094	chr9:12512229-12512230	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs79358845	chr9:12512280-12512281	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs113742378	chr9:12512282-12512283	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs187123849	chr9:12512300-12512301	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs567056386	chr9:12512308-12512309	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs551814810	chr9:12512338-12512339	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs538828224	chr9:12512382-12512383	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs562282044	chr9:12512394-12512395	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs114896960	chr9:12512404-12512405	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs191552328	chr9:12512408-12512409	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs551182132	chr9:12512418-12512419	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs182083692	chr9:12512422-12512423	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs567779533	chr9:12512448-12512449	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs530392467	chr9:12512506-12512507	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs73413434	chr9:12512543-12512544	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs149766779	chr9:12512544-12512545	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs186449618	chr9:12512572-12512573	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs533892849	chr9:12512579-12512580	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs190877995	chr9:12512608-12512609	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs553561541	chr9:12512609-12512610	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs576985265	chr9:12512619-12512620	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs376112887	chr9:12512636-12512637	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs147538079	chr9:12512652-12512653	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs182351117	chr9:12512653-12512654	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs1325128	chr9:12512699-12512700	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:103)

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
Cancer	20164920	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
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Renal cell carcinoma	21215367	CNVD
Chordoma	21215367	CNVD

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:12511600-12512800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr9:12511800-12512200	Enhancers	Fetal Brain Female	brain
3	chr9:12512800-12513000	Enhancers	Pancreatic Islets	Pancreatic Islet
4	chr9:12512800-12513800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr9:12513000-12514200	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr9:12514000-12514200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr9:12514200-12514400	Enhancers	Pancreatic Islets	Pancreatic Islet
8	chr9:12515400-12516600	Enhancers	Colon Smooth Muscle	Colon
9	chr9:12516200-12517000	Enhancers	H1 Cell Line	embryonic stem cell
10	chr9:12516200-12517000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr9:12516800-12517200	Enhancers	Rectal Smooth Muscle	rectum
12	chr9:12519000-12519600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr9:12519600-12520000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr9:12520000-12520600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr9:12539000-12540200	Active TSS	Pancreas	Pancrea
16	chr9:12539200-12539400	Enhancers	Ovary	ovary
17	chr9:12539200-12539600	Flanking Active TSS	Fetal Lung	lung
18	chr9:12539200-12539800	Active TSS	Right Atrium	heart
19	chr9:12539200-12540000	Active TSS	Pancreatic Islets	Pancreatic Islet
20	chr9:12539400-12539800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr9:12539400-12539800	Active TSS	Aorta	Aorta
22	chr9:12539400-12539800	Active TSS	Fetal Adrenal Gland	Adrenal Gland
23	chr9:12539400-12540000	Flanking Active TSS	Ovary	ovary
24	chr9:12539600-12540400	Enhancers	Fetal Lung	lung
25	chr9:12539800-12540200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr9:12540000-12540200	Enhancers	Ovary	ovary
27	chr9:12540200-12544600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr9:12540400-12540800	Enhancers	Pancreas	Pancrea
29	chr9:12544400-12544600	Enhancers	Brain Germinal Matrix	brain
30	chr9:12544600-12546400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
31	chr9:12544800-12545400	Weak transcription	Brain Germinal Matrix	brain
32	chr9:12544800-12545800	Enhancers	Pancreatic Islets	Pancreatic Islet
33	chr9:12545400-12546400	Enhancers	Brain Germinal Matrix	brain
34	chr9:12546000-12546400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr9:12555400-12556200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr9:12555400-12556800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr9:12559600-12560000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr9:12560000-12560400	Enhancers	iPS-20b Cell Line	embryonic stem cell
39	chr9:12566800-12567400	Enhancers	Stomach Mucosa	stomach
40	chr9:12595600-12596000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr9:12598800-12599800	Enhancers	Fetal Heart	heart
42	chr9:12599800-12604000	Weak transcription	Fetal Heart	heart
43	chr9:12604000-12604400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr9:12604000-12604600	Enhancers	Skeletal Muscle Female	skeletal muscle
45	chr9:12604000-12604600	Enhancers	HMEC	breast
46	chr9:12604000-12605200	Enhancers	Fetal Heart	heart
47	chr9:12604000-12605200	Enhancers	Skeletal Muscle Male	skeletal muscle
48	chr9:12604200-12604600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr9:12604200-12604600	Enhancers	Psoas Muscle	Psoas
50	chr9:12604600-12605800	Weak transcription	Psoas Muscle	Psoas

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links