Variant report

Variant	rs13377352
Chromosome Location	chr11:9864398-9864399
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs11042504	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11042508	1.00[EUR][1000 genomes]
rs11042513	1.00[EUR][1000 genomes]
rs11042520	1.00[EUR][1000 genomes]
rs11042522	1.00[EUR][1000 genomes]
rs11042537	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11042538	0.87[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11042544	0.89[YRI][hapmap];1.00[AMR][1000 genomes]
rs11042546	1.00[AMR][1000 genomes]
rs11042551	1.00[AMR][1000 genomes]
rs11042587	0.89[YRI][hapmap]
rs12270313	1.00[EUR][1000 genomes]
rs12270444	0.89[YRI][hapmap];1.00[AMR][1000 genomes]
rs12270596	1.00[AMR][1000 genomes]
rs12285985	1.00[EUR][1000 genomes]
rs12290340	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12291871	0.80[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12294282	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12295264	0.89[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13377319	1.00[AMR][1000 genomes]
rs360121	1.00[EUR][1000 genomes]
rs57108291	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57125659	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57460369	1.00[EUR][1000 genomes]
rs57669768	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60528623	1.00[EUR][1000 genomes]
rs7116821	1.00[EUR][1000 genomes]
rs7358421	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7358470	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9630162	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9971601	1.00[ASW][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933855	chr11:9645441-10130519	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv1053369	chr11:9647837-9876054	Genic enhancers Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv896987	chr11:9759918-9885849	Strong transcription Enhancers Genic enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	esv3384280	chr11:9766350-9911228	Flanking Bivalent TSS/Enh Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	esv2762895	chr11:9849511-9954549	Flanking Active TSS Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs13377352	SBF2	cis	lymphoblastoid	seeQTL

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:9818600-9881400	Weak transcription	Spleen	Spleen
2	chr11:9824200-9867600	Weak transcription	Psoas Muscle	Psoas
3	chr11:9826800-9868200	Weak transcription	Aorta	Aorta
4	chr11:9829600-9865600	Weak transcription	Gastric	stomach
5	chr11:9830000-9864400	Weak transcription	Esophagus	oesophagus
6	chr11:9830400-9880400	Weak transcription	Thymus	Thymus
7	chr11:9830800-9865600	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr11:9830800-9866800	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr11:9830800-9880600	Weak transcription	Fetal Brain Male	brain
10	chr11:9833400-9868400	Weak transcription	Fetal Kidney	kidney
11	chr11:9833600-9878800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr11:9834200-9876600	Weak transcription	Brain Germinal Matrix	brain
13	chr11:9834600-9867400	Weak transcription	Brain Hippocampus Middle	brain
14	chr11:9834600-9877200	Weak transcription	Right Ventricle	heart
15	chr11:9837600-9885800	Weak transcription	Hela-S3	cervix
16	chr11:9838600-9879800	Weak transcription	Fetal Thymus	thymus
17	chr11:9848200-9877000	Weak transcription	HepG2	liver
18	chr11:9851200-9880000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr11:9851600-9875400	Weak transcription	Stomach Mucosa	stomach
20	chr11:9851600-9880400	Weak transcription	Small Intestine	intestine
21	chr11:9853000-9871600	Weak transcription	Fetal Intestine Small	intestine
22	chr11:9853400-9877400	Weak transcription	Brain Substantia Nigra	brain
23	chr11:9854000-9865600	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr11:9854000-9868400	Weak transcription	Lung	lung
25	chr11:9854000-9877400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr11:9854000-9880600	Weak transcription	Colonic Mucosa	Colon
27	chr11:9856600-9880000	Weak transcription	Fetal Heart	heart
28	chr11:9856800-9865600	Weak transcription	Pancreas	Pancrea
29	chr11:9859000-9872800	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr11:9859600-9871400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr11:9859800-9880200	Strong transcription	Monocytes-CD14+_RO01746	blood
32	chr11:9860600-9865600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr11:9860600-9867200	Weak transcription	NHLF	lung
34	chr11:9860800-9864800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
35	chr11:9861000-9866800	Weak transcription	NH-A	brain
36	chr11:9861000-9868400	Weak transcription	Brain Angular Gyrus	brain
37	chr11:9861200-9866800	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr11:9861200-9866800	Weak transcription	Brain Anterior Caudate	brain
39	chr11:9861200-9867200	Weak transcription	Colon Smooth Muscle	Colon
40	chr11:9861200-9867600	Weak transcription	Brain Cingulate Gyrus	brain
41	chr11:9861400-9864400	Weak transcription	Stomach Smooth Muscle	stomach
42	chr11:9861400-9865600	Weak transcription	Primary neutrophils fromperipheralblood	blood
43	chr11:9861400-9865600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr11:9861400-9865600	Weak transcription	NHDF-Ad	bronchial
45	chr11:9861400-9866600	Weak transcription	Osteobl	bone
46	chr11:9861400-9866800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr11:9861400-9866800	Weak transcription	HUES48 Cell Line	embryonic stem cell
48	chr11:9861400-9866800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr11:9861400-9866800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
50	chr11:9861400-9866800	Weak transcription	Primary hematopoietic stem cells	blood

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