Variant report

Variant	esv3523513
Chromosome Location	chr13:111329690-111330147
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	BATF	chr13:111329690-111330085	GM12878	blood:	n/a	n/a
2	BCL11A	chr13:111329451-111330173	GM12878	blood:	n/a	n/a
3	BHLHE40	chr13:111328344-111329778	GM12878	blood:	n/a	chr13:111328790-111328806 chr13:111328782-111328798
4	EBF1	chr13:111329657-111330177	GM12878	blood:	n/a	n/a
5	EBF1	chr13:111329597-111330195	GM12878	blood:	n/a	n/a
6	EP300	chr13:111328368-111329762	GM12878	blood:	n/a	chr13:111329137-111329144
7	EP300	chr13:111329686-111330153	GM12878	blood:	n/a	n/a
8	IRF4	chr13:111329601-111330168	GM12878	blood:	n/a	n/a
9	MAZ	chr13:111328422-111329787	GM12878	blood:	n/a	n/a
10	MTA3	chr13:111328044-111329851	GM12878	blood:	n/a	n/a
11	NFIC	chr13:111329631-111330240	GM12878	blood:	n/a	n/a
12	NFIC	chr13:111329367-111329925	GM12878	blood:	n/a	n/a
13	PAX5	chr13:111328292-111330332	GM12878	blood:	n/a	chr13:111329107-111329116
14	PAX5	chr13:111329685-111330084	GM12878	blood:	n/a	n/a
15	PAX5	chr13:111329677-111330195	GM12878	blood:	n/a	n/a
16	PAX5	chr13:111328277-111330032	GM12878	blood:	n/a	chr13:111329107-111329116
17	PML	chr13:111328339-111329763	GM12878	blood:	n/a	n/a
18	POLR2A	chr13:111329677-111330279	GM12891	blood:	n/a	n/a
19	POLR2A	chr13:111329713-111330374	GM12892	blood:	n/a	n/a
20	POLR2A	chr13:111329711-111330145	GM12878	blood:	n/a	n/a
21	POLR2A	chr13:111329732-111330199	GM12878	blood:	n/a	n/a
22	POLR2A	chr13:111329677-111330342	GM12878	blood:	n/a	n/a
23	POLR2A	chr13:111329706-111330185	GM12878	blood:	n/a	n/a
24	POLR2A	chr13:111330000-111330287	GM12891	blood:	n/a	n/a
25	POU2F2	chr13:111329560-111330257	GM12878	blood:	n/a	n/a
26	POU2F2	chr13:111329667-111330116	GM12891	blood:	n/a	n/a
27	POU2F2	chr13:111329638-111330211	GM12891	blood:	n/a	n/a
28	RELA	chr13:111328466-111329769	GM18951	blood:	n/a	n/a
29	RELA	chr13:111328440-111329838	GM19099	blood:	n/a	n/a
30	RUNX3	chr13:111330034-111330370	GM12878	blood:	n/a	n/a
31	RUNX3	chr13:111329981-111330284	GM12878	blood:	n/a	n/a
32	RUNX3	chr13:111328025-111329844	GM12878	blood:	n/a	n/a
33	RUNX3	chr13:111328037-111329841	GM12878	blood:	n/a	n/a
34	SP1	chr13:111329605-111330116	GM12878	blood:	n/a	n/a
35	SP1	chr13:111329653-111330193	GM12878	blood:	n/a	n/a
36	TBL1XR1	chr13:111328406-111329753	GM12878	blood:	n/a	n/a
37	TCF12	chr13:111329776-111330103	GM12878	blood:	n/a	n/a
38	TCF3	chr13:111329714-111330059	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:111328800..111330834-chr13:111364440..111366788,2	K562	blood:
2	chr13:111328800..111332502-chr13:111363272..111367932,6	K562	blood:

Variant related genes	Relation type
CARS2	TF binding region
ENSG00000134905	chromatin interactions
ENSG00000153487	chromatin interactions

Extended variants
information (count: 40 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:40 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs112411948	chr13:111329731-111329732	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	mRNA abundance
2	rs116445785	chr13:111329741-111329742	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs375733871	chr13:111329749-111329750	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs111861692	chr13:111329762-111329763	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs555745014	chr13:111329790-111329791	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs573906307	chr13:111329792-111329793	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs111337923	chr13:111329806-111329807	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs535011932	chr13:111329807-111329808	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs553542826	chr13:111329812-111329813	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs56390422	chr13:111329813-111329814	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs559014010	chr13:111329830-111329831	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs55698523	chr13:111329855-111329856	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs371387530	chr13:111329865-111329866	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs56402184	chr13:111329867-111329868	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs56303604	chr13:111329874-111329875	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs113152490	chr13:111329877-111329878	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs55900054	chr13:111329879-111329880	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs56362560	chr13:111329885-111329886	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs56042147	chr13:111329893-111329894	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs56112855	chr13:111329899-111329900	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs55654030	chr13:111329900-111329901	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs534222517	chr13:111329914-111329915	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs578130793	chr13:111329916-111329917	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs544395733	chr13:111329918-111329919	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs547137033	chr13:111329939-111329940	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs367590116	chr13:111329953-111329954	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs544892193	chr13:111329974-111329975	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs113376408	chr13:111330024-111330025	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs188051054	chr13:111330046-111330047	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs61971608	chr13:111330052-111330053	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs61971609	chr13:111330058-111330059	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs142156861	chr13:111330066-111330067	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs374916590	chr13:111330069-111330070	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs145764371	chr13:111330072-111330073	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs112861134	chr13:111330078-111330079	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs545642386	chr13:111330089-111330090	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs149629919	chr13:111330104-111330105	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs7399501	chr13:111330126-111330127	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs180933645	chr13:111330134-111330135	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs542910304	chr13:111330147-111330148	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:90)

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
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
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:133 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:111297800-111336400	Weak transcription	Small Intestine	intestine
2	chr13:111302200-111351400	Weak transcription	Stomach Mucosa	stomach
3	chr13:111310800-111352200	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr13:111311600-111352000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr13:111312800-111357400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr13:111316200-111330600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr13:111316600-111332800	Weak transcription	K562	blood
8	chr13:111319400-111337600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr13:111319800-111348400	Weak transcription	Fetal Brain Male	brain
10	chr13:111319800-111354600	Weak transcription	Fetal Heart	heart
11	chr13:111320200-111339200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr13:111321800-111332800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr13:111322000-111330000	Weak transcription	NHDF-Ad	bronchial
14	chr13:111322800-111333800	Weak transcription	Fetal Kidney	kidney
15	chr13:111322800-111349600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr13:111327800-111331400	Strong transcription	Colonic Mucosa	Colon
17	chr13:111327800-111336000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr13:111327800-111344200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr13:111327800-111347400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr13:111327800-111355000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr13:111328000-111330400	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
22	chr13:111328000-111331000	Strong transcription	Fetal Lung	lung
23	chr13:111328000-111331200	Strong transcription	Fetal Muscle Trunk	muscle
24	chr13:111328000-111331600	Strong transcription	Duodenum Smooth Muscle	Duodenum
25	chr13:111328000-111331800	Strong transcription	Brain Inferior Temporal Lobe	brain
26	chr13:111328000-111331800	Strong transcription	Gastric	stomach
27	chr13:111328000-111331800	Strong transcription	Ovary	ovary
28	chr13:111328000-111331800	Strong transcription	Thymus	Thymus
29	chr13:111328000-111332400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr13:111328000-111333200	Strong transcription	NHLF	lung
31	chr13:111328000-111335200	Strong transcription	Brain Cingulate Gyrus	brain
32	chr13:111328000-111335200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr13:111328000-111335400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr13:111328000-111335400	Strong transcription	HepG2	liver
35	chr13:111328000-111335600	Strong transcription	Liver	Liver
36	chr13:111328000-111335600	Strong transcription	Duodenum Mucosa	Duodenum
37	chr13:111328000-111336000	Strong transcription	Fetal Intestine Large	intestine
38	chr13:111328000-111336600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr13:111328000-111336800	Strong transcription	Left Ventricle	heart
40	chr13:111328000-111337800	Strong transcription	Brain Germinal Matrix	brain
41	chr13:111328000-111338200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr13:111328000-111339800	Strong transcription	HUES6 Cell Line	embryonic stem cell
43	chr13:111328000-111340200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr13:111328000-111341000	Strong transcription	HUES64 Cell Line	embryonic stem cell
45	chr13:111328000-111342400	Strong transcription	Fetal Muscle Leg	muscle
46	chr13:111328000-111342400	Strong transcription	Osteobl	bone
47	chr13:111328000-111342800	Strong transcription	Primary T helper cells PMA-I stimulated	--
48	chr13:111328000-111343200	Strong transcription	Cortex derived primary cultured neurospheres	brain
49	chr13:111328000-111343400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr13:111328000-111343400	Strong transcription	Adipose Nuclei	Adipose

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