Variant report

Variant	esv3432052
Chromosome Location	chr5:112232059-112232575
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:90)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:90 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr5:112232114-112232476	GM12878	blood:	n/a	n/a
2	CEBPB	chr5:112232191-112232468	MCF-7	breast:	n/a	n/a
3	CTCF	chr5:112232240-112232390	HCPEpiC	choroid plexus:	n/a	n/a
4	CTCF	chr5:112232180-112232330	HCT-116	colon:	n/a	n/a
5	CTCF	chr5:112232260-112232410	BJ	skin:	n/a	n/a
6	CTCF	chr5:112232180-112232330	GM12872	blood:	n/a	n/a
7	CTCF	chr5:112232240-112232390	HBMEC	blood vessel:	n/a	n/a
8	CTCF	chr5:112232368-112232409	H1-hESC	embryonic stem cell:	n/a	n/a
9	CTCF	chr5:112232240-112232390	HEEpiC	esophagus:	n/a	n/a
10	CTCF	chr5:112232240-112232390	HepG2	liver:	n/a	n/a
11	CTCF	chr5:112232240-112232390	HMEC	breast:	n/a	n/a
12	CTCF	chr5:112232260-112232410	GM12874	blood:	n/a	n/a
13	CTCF	chr5:112232345-112232371	IMR90	lung:	n/a	n/a
14	CTCF	chr5:112232220-112232370	WERI-Rb-1	eye:	n/a	n/a
15	CTCF	chr5:112232300-112232450	RPTEC	kidney:	n/a	n/a
16	CTCF	chr5:112232200-112232350	Caco-2	colon:	n/a	n/a
17	CTCF	chr5:112232220-112232370	HVMF	connective:	n/a	n/a
18	CTCF	chr5:112232220-112232370	HPF	lung:	n/a	n/a
19	CTCF	chr5:112232260-112232410	NHEK	skin:	n/a	n/a
20	CTCF	chr5:112232220-112232370	HBMEC	blood vessel:	n/a	n/a
21	CTCF	chr5:112232260-112232410	HMF	breast:	n/a	n/a
22	CTCF	chr5:112232260-112232410	HRPEpiC	eye:	n/a	n/a
23	CTCF	chr5:112232220-112232370	NHEK	skin:	n/a	n/a
24	CTCF	chr5:112232280-112232430	GM12865	blood:	n/a	n/a
25	CTCF	chr5:112232260-112232410	GM12868	blood:	n/a	n/a
26	CTCF	chr5:112232240-112232390	GM12874	blood:	n/a	n/a
27	CTCF	chr5:112232200-112232350	AoAF	blood vessel:	n/a	n/a
28	CTCF	chr5:112232260-112232410	GM12866	blood:	n/a	n/a
29	CTCF	chr5:112232180-112232330	HAc	cerebellar:	n/a	n/a
30	CTCF	chr5:112232240-112232390	GM06990	blood:	n/a	n/a
31	CTCF	chr5:112232200-112232350	GM12873	blood:	n/a	n/a
32	CTCF	chr5:112232240-112232390	AG10803	skin:	n/a	n/a
33	CTCF	chr5:112232220-112232370	GM12865	blood:	n/a	n/a
34	CTCF	chr5:112232240-112232390	Hela-S3	cervix:	n/a	n/a
35	CTCF	chr5:112232220-112232370	HUVEC	blood vessel:	n/a	n/a
36	CTCF	chr5:112232140-112232290	HFF	foreskin:	n/a	n/a
37	CTCF	chr5:112232341-112232384	MCF-7	breast:	n/a	n/a
38	CTCF	chr5:112232260-112232410	GM12878	blood:	n/a	n/a
39	CTCF	chr5:112232240-112232390	A549	lung:	n/a	n/a
40	CTCF	chr5:112232220-112232370	MCF-7	breast:	n/a	n/a
41	CTCF	chr5:112232080-112232230	GM06990	blood:	n/a	n/a
42	CTCF	chr5:112232280-112232430	HVMF	connective:	n/a	n/a
43	CTCF	chr5:112232260-112232410	GM12864	blood:	n/a	n/a
44	CTCF	chr5:112232220-112232370	SAEC	small airway:	n/a	n/a
45	CTCF	chr5:112232140-112232290	GM12869	blood:	n/a	n/a
46	CTCF	chr5:112232260-112232410	GM12871	blood:	n/a	n/a
47	CTCF	chr5:112232280-112232430	GM12867	blood:	n/a	n/a
48	CTCF	chr5:112232260-112232410	A549	lung:	n/a	n/a
49	CTCF	chr5:112232220-112232370	RPTEC	kidney:	n/a	n/a
50	CTCF	chr5:112232260-112232410	HEK293	kidney:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:112217974..112220953-chr5:112229731..112232331,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000272389	TF binding region
ENSG00000249947	chromatin interactions

Extended variants
information (count: 29 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:29 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs549317590	chr5:112232080-112232081	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs182104288	chr5:112232081-112232082	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs538054598	chr5:112232086-112232087	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs532898357	chr5:112232094-112232095	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs141122226	chr5:112232133-112232134	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs150324831	chr5:112232145-112232146	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs144926472	chr5:112232167-112232168	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs455469	chr5:112232228-112232229	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs149090489	chr5:112232234-112232235	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs28540398	chr5:112232239-112232240	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs28627152	chr5:112232240-112232241	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs189104551	chr5:112232241-112232242	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs143117946	chr5:112232255-112232256	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs559918837	chr5:112232294-112232295	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs528275317	chr5:112232320-112232321	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs544789473	chr5:112232335-112232336	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs527442076	chr5:112232370-112232371	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs562978926	chr5:112232382-112232383	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs548756632	chr5:112232390-112232391	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs138655726	chr5:112232391-112232392	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs545150884	chr5:112232402-112232403	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs113131684	chr5:112232415-112232416	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs527299597	chr5:112232430-112232431	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs549258344	chr5:112232446-112232447	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs561237604	chr5:112232453-112232454	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs531553186	chr5:112232455-112232456	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs112345576	chr5:112232520-112232521	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs571381776	chr5:112232521-112232522	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs539519882	chr5:112232526-112232527	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:83)

Disease	PMID	Source
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Colorectal cancer	16774939	CNVD
Colorectal cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Myelofibrosis	22110671	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Colorectal cancer	21297112	CNVD
Glioblastoma multiforme	22286061	CNVD
Prostate cancer	16461572	CNVD
Sezary syndrome	18413736	CNVD
Cancer	17440070	CNVD
Prostate cancer	22341455	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:147 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112200600-112242000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr5:112206400-112242800	Weak transcription	Fetal Brain Male	brain
3	chr5:112209800-112238600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr5:112210800-112232400	Strong transcription	Primary B cells from peripheral blood	blood
5	chr5:112211200-112240000	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr5:112211600-112256400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr5:112211800-112239200	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr5:112212200-112256400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr5:112212600-112251400	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr5:112214200-112232200	Strong transcription	Primary neutrophils fromperipheralblood	blood
11	chr5:112214800-112234800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr5:112215200-112255800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr5:112215800-112240400	Strong transcription	Primary B cells from cord blood	blood
14	chr5:112215800-112247200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr5:112219800-112232200	Strong transcription	Fetal Intestine Small	intestine
16	chr5:112221400-112237800	Weak transcription	Small Intestine	intestine
17	chr5:112221800-112256600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr5:112222000-112233800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr5:112222000-112256400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr5:112222800-112239000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr5:112223000-112233600	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr5:112223000-112233800	Weak transcription	Primary hematopoietic stem cells	blood
23	chr5:112223000-112234200	Weak transcription	Aorta	Aorta
24	chr5:112223000-112234400	Weak transcription	Ovary	ovary
25	chr5:112223000-112235800	Weak transcription	K562	blood
26	chr5:112223000-112240800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr5:112223000-112243000	Weak transcription	Right Ventricle	heart
28	chr5:112223000-112245200	Weak transcription	Colonic Mucosa	Colon
29	chr5:112223000-112245200	Weak transcription	Rectal Smooth Muscle	rectum
30	chr5:112223000-112256400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr5:112223000-112256600	Weak transcription	Thymus	Thymus
32	chr5:112223400-112234000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr5:112223600-112235200	Weak transcription	NHDF-Ad	bronchial
34	chr5:112223600-112236800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr5:112224600-112238800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
36	chr5:112224800-112233000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
37	chr5:112224800-112242400	Weak transcription	Right Atrium	heart
38	chr5:112224800-112250600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
39	chr5:112225000-112251600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
40	chr5:112225600-112232200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr5:112225600-112238600	Strong transcription	Fetal Stomach	stomach
42	chr5:112226400-112235000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr5:112226400-112238800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr5:112226800-112239000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr5:112227200-112232600	Strong transcription	Fetal Muscle Trunk	muscle
46	chr5:112227200-112239000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr5:112227400-112232200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr5:112227400-112239200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr5:112227600-112238600	Strong transcription	Dnd41	blood
50	chr5:112227600-112238800	Strong transcription	Breast Myoepithelial Primary Cells	Breast

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