Variant report

Variant	rs7991744
Chromosome Location	chr13:50696448-50696449
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:50693847..50696829-chr13:51484594..51486146,2	K562	blood:
2	chr13:50696115..50698761-chr13:50935615..50937568,2	K562	blood:
3	chr13:50681112..50683288-chr13:50696129..50697840,2	MCF-7	breast:
4	chr13:50576641..50578970-chr13:50694354..50696520,2	K562	blood:
5	chr13:50678670..50682437-chr13:50696050..50699691,4	K562	blood:
6	chr13:50652169..50667024-chr13:50693268..50703943,57	K562	blood:
7	chr13:50696202..50700492-chr13:50759152..50762847,4	K562	blood:
8	chr13:50569500..50573569-chr13:50696112..50701767,10	K562	blood:
9	chr13:50667173..50669730-chr13:50696420..50698590,2	K562	blood:
10	chr13:50652189..50666968-chr13:50693462..50701392,46	MCF-7	breast:
11	chr13:50648761..50651214-chr13:50695521..50698783,3	K562	blood:
12	chr13:50695987..50698741-chr13:50773838..50775840,2	K562	blood:
13	chr13:50653006..50665770-chr13:50696335..50703879,43	K562	blood:

No data

Variant related genes	Relation type
ENSG00000221198	Chromatin interaction
ENSG00000223676	Chromatin interaction
ENSG00000204977	Chromatin interaction
ENSG00000231607	Chromatin interaction
ENSG00000176124	Chromatin interaction
ENSG00000264864	Chromatin interaction
ENSG00000233672	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs12100048	0.83[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs1323451	0.81[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs17073724	0.89[EUR][1000 genomes]
rs17073826	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17073834	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17471092	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2066566	0.83[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs2066586	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2066598	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61961304	0.80[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs61961305	0.85[EUR][1000 genomes]
rs61961323	0.80[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs61961325	0.80[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs61961327	0.89[EUR][1000 genomes]
rs61961328	0.89[EUR][1000 genomes]
rs61962359	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6561575	0.91[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs73196768	0.95[EUR][1000 genomes]
rs7325091	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7325993	0.89[EUR][1000 genomes]
rs7331247	0.80[EUR][1000 genomes]
rs7981648	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7982125	0.80[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs9596240	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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
5	nsv832608	chr13:50678628-50888413	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
6	nsv1041501	chr13:50683189-50795195	Flanking Active TSS Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7991744	TRIM13	Cis_1M	lymphoblastoid	RTeQTL
rs7991744	DLEU1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:50658000-50697200	Weak transcription	HSMMtube	muscle
2	chr13:50659800-50697200	Weak transcription	Hela-S3	cervix
3	chr13:50673800-50697600	Weak transcription	HSMM	muscle
4	chr13:50674000-50697200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr13:50674000-50697600	Weak transcription	Esophagus	oesophagus
6	chr13:50679200-50697200	Weak transcription	NH-A	brain
7	chr13:50681400-50697200	Weak transcription	Fetal Kidney	kidney
8	chr13:50682000-50697200	Weak transcription	NHDF-Ad	bronchial
9	chr13:50682200-50696600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr13:50682800-50698000	Weak transcription	Ovary	ovary
11	chr13:50689000-50697200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr13:50689200-50697600	Weak transcription	Fetal Stomach	stomach
13	chr13:50690000-50696800	Weak transcription	Stomach Mucosa	stomach
14	chr13:50690000-50697000	Weak transcription	Brain Angular Gyrus	brain
15	chr13:50690000-50698000	Weak transcription	Gastric	stomach
16	chr13:50690200-50696600	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr13:50690200-50697600	Weak transcription	Aorta	Aorta
18	chr13:50690800-50696600	Weak transcription	Small Intestine	intestine
19	chr13:50691400-50696800	Weak transcription	Osteobl	bone
20	chr13:50691400-50697000	Weak transcription	HUVEC	blood vessel
21	chr13:50691600-50697200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr13:50694000-50697400	Weak transcription	Rectal Smooth Muscle	rectum
23	chr13:50694200-50696600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr13:50694400-50696800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr13:50694400-50697200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr13:50694400-50697200	Weak transcription	NHLF	lung
27	chr13:50694600-50697400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr13:50695000-50697000	Enhancers	K562	blood
29	chr13:50695000-50697200	Genic enhancers	Dnd41	blood
30	chr13:50695000-50697600	Enhancers	Pancreas	Pancrea
31	chr13:50695000-50697600	Enhancers	Psoas Muscle	Psoas
32	chr13:50695200-50696600	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr13:50695200-50696600	Enhancers	Brain Germinal Matrix	brain
34	chr13:50695400-50696600	Genic enhancers	Primary B cells from peripheral blood	blood
35	chr13:50695400-50697600	Enhancers	Primary T cells fromperipheralblood	blood
36	chr13:50695400-50697600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
37	chr13:50695400-50697600	Enhancers	Brain Hippocampus Middle	brain
38	chr13:50695600-50696600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr13:50695600-50696600	Genic enhancers	Cortex derived primary cultured neurospheres	brain
40	chr13:50695600-50697200	Enhancers	Fetal Heart	heart
41	chr13:50695600-50697400	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
42	chr13:50695600-50698000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
43	chr13:50695800-50696600	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
44	chr13:50695800-50696600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
45	chr13:50695800-50696600	Enhancers	Rectal Mucosa Donor 29	rectum
46	chr13:50695800-50697200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr13:50695800-50697200	Enhancers	Brain Inferior Temporal Lobe	brain
48	chr13:50695800-50697200	Weak transcription	Fetal Muscle Trunk	muscle
49	chr13:50695800-50697400	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
50	chr13:50695800-50697400	Enhancers	Colon Smooth Muscle	Colon

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links