Variant report

Variant	esv4175
Chromosome Location	chr13:111109140-111109662
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:185)
Chromatin interactive
region (count:9)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	JUND	chr13:111109137-111109444	HepG2	liver:	n/a	n/a
2	JUND	chr13:111109449-111109653	HepG2	liver:	n/a	n/a
3	POLR2A	chr13:111109110-111109680	H1-hESC	embryonic stem cell:	n/a	n/a
4	REST	chr13:111109126-111109675	PANC-1	pancreas:	n/a	n/a
5	REST	chr13:111108976-111109802	U87	brain:	n/a	n/a
6	SRF	chr13:111109119-111109685	GM12878	blood:	n/a	n/a

(count:185 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr13:111109497-111109547	NB4	blood:	n/a
2	chr13:111109140-111109190	AoSMC	blood vessel:	n/a
3	chr13:111109497-111109547	NB4	blood:	n/a
4	chr13:111109140-111109190	AoSMC	blood vessel:	n/a
5	chr13:111109140-111109190	PFSK-1	brain:	n/a
6	chr13:111109651-111109701	BJ	skin:	n/a
7	chr13:111109651-111109701	HRPEpiC	eye:	n/a
8	chr13:111109651-111109701	H1-hESC	embryonic stem cell:	embryo
9	chr13:111109140-111109190	SK-N-SH_RA	brain:	n/a
10	chr13:111109651-111109701	AG04450	lung:	fetal
11	chr13:111109497-111109547	PFSK-1	brain:	n/a
12	chr13:111109497-111109547	HPAEpiC	pulmonary alveolar:	n/a
13	chr13:111109140-111109190	HCT-116	colon:	n/a
14	chr13:111109140-111109190	GM12878	blood:	n/a
15	chr13:111109651-111109701	ECC-1	luminal epithelium:	n/a
16	chr13:111109140-111109190	HMEC	breast:	n/a
17	chr13:111109497-111109547	HUVEC	blood vessel:	n/a
18	chr13:111109497-111109547	HMEC	breast:	n/a
19	chr13:111109140-111109190	Jurkat	blood:	n/a
20	chr13:111109651-111109701	AG10803	skin:	n/a
21	chr13:111109651-111109701	AG04449	skin:	fetal
22	chr13:111109140-111109190	U87	brain:	n/a
23	chr13:111109497-111109547	HCF	heart:	n/a
24	chr13:111109140-111109190	PANC-1	pancreas:	n/a
25	chr13:111109651-111109701	HMEC	breast:	n/a
26	chr13:111109651-111109701	NB4	blood:	n/a
27	chr13:111109497-111109547	MCF-7	breast:	n/a
28	chr13:111109497-111109547	SK-N-SH_RA	brain:	n/a
29	chr13:111109140-111109190	GM12892	blood:	n/a
30	chr13:111109140-111109190	HNPCEpiC	eye:	n/a
31	chr13:111109651-111109701	HAEpiC	amniotic membrane:	n/a
32	chr13:111109651-111109701	Caco-2	colon:	n/a
33	chr13:111109651-111109701	HEK293	kidney:	embryo
34	chr13:111109497-111109547	ovcar-3	ovarian:	n/a
35	chr13:111109140-111109190	HPAEpiC	pulmonary alveolar:	n/a
36	chr13:111109651-111109701	NH-A	brain:	n/a
37	chr13:111109497-111109547	MCF10A-Er-Src	breast:	n/a
38	chr13:111109497-111109547	Hepatocyte	liver:	n/a
39	chr13:111109497-111109547	K562	blood:	n/a
40	chr13:111109651-111109701	SKMC	muscle:	n/a
41	chr13:111109140-111109190	HRCEpiC	kidney:	n/a
42	chr13:111109140-111109190	PrEC	prostate:	n/a
43	chr13:111109497-111109547	PANC-1	pancreas:	n/a
44	chr13:111109497-111109547	GM12891	blood:	n/a
45	chr13:111109140-111109190	HCF	heart:	n/a
46	chr13:111109497-111109547	BJ	skin:	n/a
47	chr13:111109497-111109547	GM19239	blood:	n/a
48	chr13:111109497-111109547	NHDF-neo	bronchial:	n/a
49	chr13:111109140-111109190	LNCaP	prostate:	n/a
50	chr13:111109497-111109547	GM06990	blood:	n/a

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:111104435..111110355-chr13:111364229..111367898,5	MCF-7	breast:
2	chr13:111106850..111109675-chr13:111241801..111244096,2	MCF-7	breast:
3	chr13:111106557..111109185-chr13:111212224..111215375,3	MCF-7	breast:
4	chr13:111108605..111110640-chr13:111363694..111365787,2	MCF-7	breast:
5	chr13:111107610..111109499-chr13:111162077..111163995,2	K562	blood:
6	chr13:111106451..111110358-chr13:111364193..111366968,4	K562	blood:
7	chr13:111107958..111109838-chr2:11209436..11210956,2	MCF-7	breast:
8	chr13:111107216..111109712-chr13:111113064..111115037,2	K562	blood:
9	chr13:111107847..111110592-chr13:111111239..111113236,3	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-COL4A2-AS2-1	chr13:111108743-111109703	ENSG00000224821.5

No data

Variant related genes	Relation type
COL4A2	TF binding region
COL4A2	CpG island
ENSG00000134905	chromatin interactions
ENSG00000139832	chromatin interactions
ENSG00000134871	chromatin interactions
ENSG00000153487	chromatin interactions

Extended variants
information (count: 59 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:59 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs545470705	chr13:111109140-111109141	Weak transcription Strong transcription	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
2	rs71201249	chr13:111109153-111109154	Weak transcription Strong transcription	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
3	rs9583497	chr13:111109156-111109157	Weak transcription Strong transcription	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
4	rs28502737	chr13:111109157-111109158	Weak transcription Strong transcription	Chromatin interactive region lncRNA	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs186587913	chr13:111109163-111109164	Weak transcription Strong transcription	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
6	rs9583498	chr13:111109177-111109178	Weak transcription Strong transcription	Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
7	rs563808677	chr13:111109187-111109188	Weak transcription Strong transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
8	rs530982663	chr13:111109190-111109191	Weak transcription Strong transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
9	rs9583499	chr13:111109205-111109206	Weak transcription Strong transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
10	rs189476385	chr13:111109208-111109209	Weak transcription Strong transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
11	rs561182370	chr13:111109209-111109210	Weak transcription Strong transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
12	rs528741657	chr13:111109213-111109214	Weak transcription Strong transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
13	rs547318994	chr13:111109219-111109220	Weak transcription Strong transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
14	rs181801540	chr13:111109228-111109229	Weak transcription Strong transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
15	rs370055942	chr13:111109251-111109252	Weak transcription Strong transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
16	rs373423717	chr13:111109273-111109274	Weak transcription Strong transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
17	rs539420098	chr13:111109274-111109275	Weak transcription Strong transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
18	rs9588168	chr13:111109283-111109284	Weak transcription Strong transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
19	rs28660620	chr13:111109289-111109290	Weak transcription Strong transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
20	rs551159570	chr13:111109292-111109293	Weak transcription Strong transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
21	rs112463686	chr13:111109303-111109304	Weak transcription Strong transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
22	rs111791213	chr13:111109313-111109314	Weak transcription Strong transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
23	rs56160019	chr13:111109325-111109326	Weak transcription Strong transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
24	rs28576470	chr13:111109331-111109332	Weak transcription Strong transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
25	rs9521778	chr13:111109345-111109346	Weak transcription Strong transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
26	rs569782202	chr13:111109354-111109355	Weak transcription Strong transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
27	rs537177209	chr13:111109359-111109360	Weak transcription Strong transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
28	rs373030497	chr13:111109367-111109368	Weak transcription Strong transcription	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
29	rs377179846	chr13:111109373-111109374	Weak transcription Strong transcription	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
30	rs9588170	chr13:111109387-111109388	Weak transcription Strong transcription	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
31	rs28588005	chr13:111109409-111109410	Weak transcription Strong transcription	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
32	rs9521779	chr13:111109415-111109416	Weak transcription Strong transcription	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
33	rs555579368	chr13:111109442-111109443	Weak transcription Strong transcription	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
34	rs79789554	chr13:111109457-111109458	Weak transcription Strong transcription	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
35	rs9515215	chr13:111109461-111109462	Weak transcription Strong transcription	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
36	rs540909253	chr13:111109482-111109483	Weak transcription Strong transcription	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
37	rs377024164	chr13:111109483-111109484	Weak transcription Strong transcription	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
38	rs186814808	chr13:111109487-111109488	Weak transcription Strong transcription	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
39	rs9559804	chr13:111109498-111109499	Weak transcription Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
40	rs9555702	chr13:111109534-111109535	Weak transcription Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
41	rs9588171	chr13:111109540-111109541	Weak transcription Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
42	rs553243089	chr13:111109550-111109551	Weak transcription Strong transcription	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
43	rs371114646	chr13:111109566-111109567	Weak transcription Strong transcription	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
44	rs9521780	chr13:111109576-111109577	Weak transcription Strong transcription	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
45	rs112999667	chr13:111109582-111109583	Weak transcription Strong transcription	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
46	rs113492074	chr13:111109596-111109597	Weak transcription Strong transcription	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
47	rs577913297	chr13:111109606-111109607	Weak transcription Strong transcription	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
48	rs545408932	chr13:111109610-111109611	Weak transcription Strong transcription	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
49	rs9515216	chr13:111109618-111109619	Weak transcription Strong transcription	TF binding region Chromatin interactive region lncRNA	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs563409931	chr13:111109626-111109627	Weak transcription Strong transcription	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:95)

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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:111078200-111136800	Weak transcription	Colonic Mucosa	Colon
2	chr13:111083600-111110000	Weak transcription	Esophagus	oesophagus
3	chr13:111099000-111123400	Strong transcription	Fetal Muscle Trunk	muscle
4	chr13:111099800-111116400	Strong transcription	Fetal Muscle Leg	muscle
5	chr13:111100000-111120000	Weak transcription	Pancreas	Pancrea
6	chr13:111100400-111118200	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr13:111101600-111130200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr13:111101800-111127800	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr13:111102200-111122000	Strong transcription	Placenta	Placenta
10	chr13:111103600-111112000	Weak transcription	HSMMtube	muscle
11	chr13:111103800-111125600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr13:111104200-111111600	Weak transcription	Fetal Lung	lung
13	chr13:111104400-111111400	Weak transcription	HSMM	muscle
14	chr13:111105800-111138000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr13:111106200-111110400	Strong transcription	Adipose Nuclei	Adipose
16	chr13:111106400-111115200	Weak transcription	Fetal Kidney	kidney
17	chr13:111106600-111111800	Strong transcription	Aorta	Aorta
18	chr13:111106600-111112400	Strong transcription	NHLF	lung
19	chr13:111106800-111110600	Strong transcription	Lung	lung
20	chr13:111107000-111109800	Weak transcription	Left Ventricle	heart
21	chr13:111107000-111111600	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr13:111107400-111110200	Weak transcription	HUVEC	blood vessel
23	chr13:111107400-111114600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr13:111107600-111109800	Weak transcription	Spleen	Spleen
25	chr13:111107600-111118000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr13:111107600-111130400	Weak transcription	Right Atrium	heart
27	chr13:111108000-111109800	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr13:111108200-111109600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr13:111108200-111109800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr13:111108200-111110000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr13:111108200-111129200	Strong transcription	Right Ventricle	heart
32	chr13:111108200-111138400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
33	chr13:111108400-111109600	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr13:111108400-111109800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr13:111108400-111109800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr13:111108400-111109800	Weak transcription	Osteobl	bone
37	chr13:111108400-111110000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr13:111108400-111110400	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr13:111108400-111110800	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr13:111108400-111113800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr13:111108400-111126800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr13:111108600-111109800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr13:111108600-111109800	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr13:111108600-111109800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr13:111108600-111110000	Weak transcription	HMEC	breast
46	chr13:111108600-111114600	Weak transcription	Gastric	stomach
47	chr13:111108600-111118600	Weak transcription	Brain Cingulate Gyrus	brain
48	chr13:111108600-111127000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr13:111108600-111138200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr13:111108600-111149200	Strong transcription	Fetal Stomach	stomach

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