Variant report

Variant	nsv520696
Chromosome Location	chr13:110818598-110819854
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOS	chr13:110819121-110819243	MCF10A-Er-Src	breast:	n/a	n/a
2	GTF2F1	chr13:110819759-110819805	Hela-S3	cervix:	n/a	n/a
3	MAFF	chr13:110819007-110819248	HepG2	liver:	n/a	chr13:110819156-110819174
4	MAFK	chr13:110819056-110819235	Hela-S3	cervix:	n/a	chr13:110819157-110819172
5	MAFK	chr13:110819000-110819315	IMR90	lung:	n/a	chr13:110819157-110819172
6	MAFK	chr13:110819015-110819323	HepG2	liver:	n/a	chr13:110819157-110819172
7	MAFK	chr13:110819027-110819291	HepG2	liver:	n/a	chr13:110819157-110819172

Variant related genes	Relation type
COL4A1	TF binding region

Extended variants
information (count: 74 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:74 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3742207	chr13:110818598-110818599	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance disease
2	rs141773246	chr13:110818601-110818602	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs141395813	chr13:110818603-110818604	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs150857429	chr13:110818604-110818605	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs535848796	chr13:110818628-110818629	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs369351745	chr13:110818674-110818675	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs537779159	chr13:110818677-110818678	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs372976243	chr13:110818678-110818679	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs375714769	chr13:110818688-110818689	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs577394000	chr13:110818708-110818709	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs139322033	chr13:110818721-110818722	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs9588106	chr13:110818728-110818729	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs150005695	chr13:110818730-110818731	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs142048694	chr13:110818758-110818759	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs541918272	chr13:110818792-110818793	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs561788202	chr13:110818804-110818805	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs181217810	chr13:110818820-110818821	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs544129739	chr13:110818827-110818828	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs41275086	chr13:110818836-110818837	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs564430643	chr13:110818850-110818851	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs113582902	chr13:110818859-110818860	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs566121548	chr13:110818883-110818884	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs533046567	chr13:110818889-110818890	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs546781049	chr13:110818934-110818935	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs186144235	chr13:110818950-110818951	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs145375343	chr13:110818956-110818957	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs549088703	chr13:110818996-110818997	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs535147634	chr13:110819000-110819001	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs558166128	chr13:110819070-110819071	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs568904166	chr13:110819090-110819091	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs76675954	chr13:110819104-110819105	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs557441466	chr13:110819107-110819108	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs571139452	chr13:110819115-110819116	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs140129322	chr13:110819119-110819120	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs553578508	chr13:110819124-110819125	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs571692664	chr13:110819142-110819143	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs694225	chr13:110819143-110819144	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs116856179	chr13:110819166-110819167	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs143906461	chr13:110819184-110819185	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs573861966	chr13:110819219-110819220	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs78978840	chr13:110819270-110819271	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs544218789	chr13:110819295-110819296	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs542758816	chr13:110819327-110819328	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs564285930	chr13:110819351-110819352	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs533256264	chr13:110819352-110819353	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs1213026	chr13:110819362-110819363	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs560334862	chr13:110819363-110819364	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs41275088	chr13:110819394-110819395	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs549125876	chr13:110819434-110819435	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs140243770	chr13:110819435-110819436	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
HIV/AIDS	22032296	CNVD
Prostate cancer	16705090	CNVD
High-proliferative meningiomas	17937814	CNVD
Cancer	20164919	CNVD
Chordoma	21602918	CNVD
Bladder cancer	21949216	CNVD
Acute myeloid leukemia	16864856	CNVD
Burkitt''s lymphoma	18698080	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	21518781	CNVD
colon cancer	17210682	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Ovarian cancer	20844748	CNVD
Colorectal cancer	19359472	CNVD
Intracranial aneurysm	19064780	CNVD
Breast cancer	19287154	CNVD
Acute myeloid leukemia	18379011	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Multiple myeloma	17077331	CNVD
Ependymoma	16718352	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Myoepithelioma	18604193	CNVD
Breast cancer	17133270	CNVD
Prostate cancer	18632612	CNVD
Melanoma	18172304	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	17053054	CNVD
Gastric cancer	17908304	CNVD
Liposarcoma	21253554	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal cancer	21851588	CNVD
Breast cancer	22032731	CNVD
Wilms tumour	21544195	CNVD
Thyroid cancer	19087340	CNVD
abortions and stillbirths	19751515	CNVD
Acute myeloid leukemia	21251322	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Burkitt''s lymphoma	20823134	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Burkitt''s lymphoma	19759907	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Medulloblastoma	19270706	CNVD
Mental retardation	17124404	CNVD
Leukemia	18688285	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21858162	CNVD
Melanoma	17363583	CNVD
Developmental delay	21147756	CNVD
Breast cancer	21364760	CNVD
Colorectal cancer	21645411	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Breast cancer	16608533	CNVD
Glioblastoma multiforme	22286061	CNVD
Follicular lymphoma	20505157	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
abnormal development	18461090	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Malignant glioma	17146433	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Glioma	17123091	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	20409316	CNVD
Central neurocytomas	17123091	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Neurocytoma	17123091	CNVD
Mantle cell lymphoma	19029149	CNVD
Multiple myeloma	16616336	CNVD

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:110791200-110825600	Weak transcription	Esophagus	oesophagus
2	chr13:110791400-110820800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr13:110791400-110825800	Weak transcription	A549	lung
4	chr13:110791400-110868400	Weak transcription	Psoas Muscle	Psoas
5	chr13:110795800-110826000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr13:110798400-110825400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr13:110798800-110825600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr13:110798800-110853200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr13:110799000-110821200	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr13:110799600-110840200	Strong transcription	Duodenum Smooth Muscle	Duodenum
11	chr13:110800000-110824800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr13:110800000-110825800	Strong transcription	Ovary	ovary
13	chr13:110800200-110837800	Strong transcription	NH-A	brain
14	chr13:110800600-110834200	Weak transcription	Duodenum Mucosa	Duodenum
15	chr13:110800800-110821800	Strong transcription	Placenta	Placenta
16	chr13:110801000-110822600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
17	chr13:110802400-110822000	Strong transcription	Colon Smooth Muscle	Colon
18	chr13:110802400-110842800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr13:110803000-110822000	Weak transcription	Small Intestine	intestine
20	chr13:110803000-110834200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr13:110803000-110840400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr13:110803200-110826000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr13:110803200-110839800	Weak transcription	NHDF-Ad	bronchial
24	chr13:110803200-110839800	Strong transcription	Osteobl	bone
25	chr13:110803600-110840000	Strong transcription	Muscle Satellite Cultured Cells	--
26	chr13:110804000-110825800	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr13:110804800-110825200	Weak transcription	Brain Anterior Caudate	brain
28	chr13:110806200-110824000	Weak transcription	Liver	Liver
29	chr13:110806600-110860400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr13:110807800-110826200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr13:110808000-110824000	Weak transcription	Colonic Mucosa	Colon
32	chr13:110809000-110821400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr13:110809000-110822000	Strong transcription	Fetal Muscle Trunk	muscle
34	chr13:110809200-110821200	Strong transcription	Fetal Lung	lung
35	chr13:110809200-110840000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr13:110809400-110824800	Weak transcription	Fetal Brain Female	brain
37	chr13:110809600-110828000	Weak transcription	Fetal Brain Male	brain
38	chr13:110809800-110819800	Strong transcription	Fetal Intestine Large	intestine
39	chr13:110809800-110820200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr13:110809800-110820600	Strong transcription	Fetal Stomach	stomach
41	chr13:110809800-110831200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr13:110810200-110866400	Strong transcription	Stomach Smooth Muscle	stomach
43	chr13:110810400-110826000	Strong transcription	Aorta	Aorta
44	chr13:110810600-110825600	Weak transcription	Brain Cingulate Gyrus	brain
45	chr13:110810800-110819600	Strong transcription	HUES6 Cell Line	embryonic stem cell
46	chr13:110810800-110824000	Strong transcription	Lung	lung
47	chr13:110811000-110822000	Strong transcription	Cortex derived primary cultured neurospheres	brain
48	chr13:110811000-110822800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr13:110811000-110840200	Strong transcription	HUVEC	blood vessel
50	chr13:110811200-110822200	Strong transcription	HUES64 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links