Variant report

Variant	rs1241386
Chromosome Location	chr13:50657950-50657951
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:11)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:11 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SPI1	chr13:50657609-50657993	GM12891	blood:	n/a	chr13:50657792-50657805
2	CUX1	chr13:50657896-50658231	K562	blood:	n/a	n/a
3	MYC	chr13:50657699-50658541	K562	blood:	n/a	n/a
4	CTCF	chr13:50657800-50657950	SAEC	small airway:	n/a	n/a
5	SPI1	chr13:50657668-50658064	HL-60	blood:	n/a	chr13:50657792-50657805
6	ARID3A	chr13:50657943-50658170	HepG2	liver:	n/a	n/a
7	TBL1XR1	chr13:50657720-50658032	K562	blood:	n/a	n/a
8	POLR2A	chr13:50657811-50658113	K562	blood:	n/a	n/a
9	POLR2A	chr13:50657709-50658374	HL-60	blood:	n/a	n/a
10	SPI1	chr13:50657488-50658035	GM12878	blood:	n/a	chr13:50657792-50657805
11	SPI1	chr13:50657712-50658006	HL-60	blood:	n/a	chr13:50657792-50657805

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:50657717..50659486-chr13:50663780..50665748,2	MCF-7	breast:
2	chr13:50652169..50667024-chr13:50693268..50703943,57	K562	blood:
3	chr13:50569852..50573038-chr13:50651628..50659276,11	K562	blood:
4	chr13:50657825..50659478-chr13:50684121..50686082,2	K562	blood:
5	chr13:50653265..50655572-chr13:50657148..50659226,2	MCF-7	breast:
6	chr13:50656878..50660410-chr13:50670774..50674010,3	K562	blood:
7	chr13:50653006..50665770-chr13:50696335..50703879,43	K562	blood:
8	chr13:50657111..50659219-chr13:51482850..51485149,3	MCF-7	breast:
9	chr13:50654073..50663597-chr13:50696674..50702768,25	MCF-7	breast:
10	chr13:50652189..50666968-chr13:50693462..50701392,46	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RNASEH2B-3	chr13:50657946-50658107	NONHSAT033810

No data

Variant related genes	Relation type
DLEU2	TF binding region
ENSG00000204977	Chromatin interaction
ENSG00000233672	Chromatin interaction
ENSG00000231607	Chromatin interaction
ENSG00000264864	Chromatin interaction
ENSG00000136104	Chromatin interaction
ENSG00000214359	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs1086510	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1149856	1.00[EUR][1000 genomes]
rs2252794	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2472595	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2740536	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2760916	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2760917	0.96[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55929963	1.00[EUR][1000 genomes]
rs56277884	1.00[EUR][1000 genomes]
rs56285935	1.00[EUR][1000 genomes]
rs56794415	1.00[EUR][1000 genomes]
rs58214088	1.00[EUR][1000 genomes]
rs58364236	1.00[EUR][1000 genomes]
rs58438849	1.00[EUR][1000 genomes]
rs58450365	1.00[EUR][1000 genomes]
rs58521176	1.00[EUR][1000 genomes]
rs59563441	1.00[EUR][1000 genomes]
rs59609469	1.00[EUR][1000 genomes]
rs59729773	1.00[EUR][1000 genomes]
rs59951137	1.00[EUR][1000 genomes]
rs60016474	1.00[EUR][1000 genomes]
rs60154020	1.00[EUR][1000 genomes]
rs61384266	1.00[EUR][1000 genomes]
rs61495306	1.00[EUR][1000 genomes]
rs706607	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs706612	0.91[YRI][hapmap];0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7321063	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs7323645	1.00[EUR][1000 genomes]
rs7330228	1.00[EUR][1000 genomes]
rs7336462	1.00[EUR][1000 genomes]
rs73494087	1.00[EUR][1000 genomes]
rs73495815	1.00[EUR][1000 genomes]
rs73495825	1.00[EUR][1000 genomes]
rs73495852	1.00[EUR][1000 genomes]
rs73495865	1.00[EUR][1000 genomes]
rs73495869	1.00[EUR][1000 genomes]
rs73495873	1.00[EUR][1000 genomes]
rs73495880	1.00[EUR][1000 genomes]
rs73495885	1.00[EUR][1000 genomes]
rs73495888	1.00[EUR][1000 genomes]
rs73495900	1.00[EUR][1000 genomes]
rs73498015	1.00[EUR][1000 genomes]
rs73498022	1.00[EUR][1000 genomes]
rs73498030	1.00[EUR][1000 genomes]
rs73498061	1.00[EUR][1000 genomes]
rs74079205	1.00[EUR][1000 genomes]
rs790936	1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs790938	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs790946	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs7981983	1.00[EUR][1000 genomes]
rs7992306	1.00[EUR][1000 genomes]
rs7996036	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035151	chr13:50513535-51167850	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1254 gene(s)	inside rSNPs	diseases
2	esv2753964	chr13:50545399-51421199	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1256 gene(s)	inside rSNPs	diseases
3	esv2753492	chr13:50550081-51461720	Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1256 gene(s)	inside rSNPs	diseases
4	esv2752608	chr13:50550099-51054499	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1249 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:50651800-50658200	Active TSS	HMEC	breast
2	chr13:50651800-50659600	Active TSS	K562	blood
3	chr13:50652200-50658000	Active TSS	HSMMtube	muscle
4	chr13:50652400-50658000	Active TSS	Hela-S3	cervix
5	chr13:50652800-50658200	Active TSS	A549	lung
6	chr13:50653000-50658200	Active TSS	Fetal Intestine Large	intestine
7	chr13:50653000-50658200	Active TSS	NH-A	brain
8	chr13:50653200-50658000	Active TSS	NHLF	lung
9	chr13:50653400-50658000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr13:50653600-50658000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr13:50653800-50658000	Active TSS	ES-I3 Cell Line	embryonic stem cell
12	chr13:50654000-50658200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr13:50655400-50658000	Active TSS	Colonic Mucosa	Colon
14	chr13:50656400-50658000	Flanking Active TSS	Primary B cells from cord blood	blood
15	chr13:50656400-50658000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
16	chr13:50656400-50658000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
17	chr13:50656400-50658200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr13:50656400-50658200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr13:50657000-50658200	Active TSS	Rectal Mucosa Donor 29	rectum
20	chr13:50657000-50659400	Weak transcription	Ovary	ovary
21	chr13:50657200-50658000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr13:50657200-50658000	Enhancers	Brain Angular Gyrus	brain
23	chr13:50657200-50658200	Active TSS	Brain Germinal Matrix	brain
24	chr13:50657200-50658400	Enhancers	Brain Hippocampus Middle	brain
25	chr13:50657200-50659800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
26	chr13:50657200-50665000	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr13:50657200-50673400	Weak transcription	Pancreas	Pancrea
28	chr13:50657400-50658000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr13:50657400-50658000	Enhancers	Primary T killer memory cells from peripheral blood	blood
30	chr13:50657400-50658000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr13:50657400-50658000	Enhancers	Brain Cingulate Gyrus	brain
32	chr13:50657400-50658000	Active TSS	Fetal Brain Female	brain
33	chr13:50657400-50658000	Weak transcription	Psoas Muscle	Psoas
34	chr13:50657400-50658000	Active TSS	Rectal Smooth Muscle	rectum
35	chr13:50657400-50658000	Enhancers	Skeletal Muscle Male	skeletal muscle
36	chr13:50657400-50658200	Enhancers	Adipose Nuclei	Adipose
37	chr13:50657400-50658200	Active TSS	Osteobl	bone
38	chr13:50657400-50658400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr13:50657400-50658400	Enhancers	Fetal Lung	lung
40	chr13:50657400-50658400	Enhancers	Fetal Muscle Trunk	muscle
41	chr13:50657400-50658600	Enhancers	Primary T cells fromperipheralblood	blood
42	chr13:50657400-50658600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
43	chr13:50657400-50658600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
44	chr13:50657400-50658600	Enhancers	Fetal Brain Male	brain
45	chr13:50657400-50659000	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr13:50657400-50659000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr13:50657400-50659000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr13:50657400-50659000	Weak transcription	Brain Substantia Nigra	brain
49	chr13:50657400-50659000	Weak transcription	Fetal Kidney	kidney
50	chr13:50657400-50659200	Enhancers	Primary T cells from cord blood	blood

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