Variant report

Variant	rs11158808
Chromosome Location	chr14:69933892-69933893
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:69932792..69935168-chr14:70232400..70234408,2	K562	blood:

Variant related genes	Relation type
ENSG00000100650	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 3 )

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

rs_ID	r²[population]
rs10131686	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10137655	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.91[TSI][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10137668	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.91[TSI][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10150434	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12147167	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12147518	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12147983	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12147999	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12385913	0.82[MEX][hapmap];0.82[TSI][hapmap]
rs17836240	1.00[CHD][hapmap]
rs2061087	0.84[CEU][hapmap];1.00[MEX][hapmap];0.90[TSI][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2061088	0.82[TSI][hapmap]
rs28791926	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55708330	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs55751520	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs59116152	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs59181716	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs60238702	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61436917	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61564515	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7152301	0.82[MEX][hapmap]
rs7155178	0.82[AMR][1000 genomes]
rs72723857	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74061833	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3396933	chr14:69906914-70001258	Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv1048882	chr14:69920881-69976694	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv1052107	chr14:69922552-69969297	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv1039230	chr14:69922552-69972002	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv1039192	chr14:69922552-69976694	Bivalent Enhancer Weak transcription Strong transcription Bivalent/Poised TSS Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv456335	chr14:69928307-69971598	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
7	nsv564967	chr14:69928307-69971598	Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs11158808	RAD51L1	cis	cerebellum	SCAN
rs11158808	GALNTL1	cis	cerebellum	SCAN
rs11158808	ADAM21	cis	parietal	SCAN

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69903600-69937800	Weak transcription	Psoas Muscle	Psoas
2	chr14:69923600-69950400	Weak transcription	Gastric	stomach
3	chr14:69925400-69939600	Weak transcription	Pancreas	Pancrea
4	chr14:69925400-69942000	Weak transcription	Spleen	Spleen
5	chr14:69925600-69940000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr14:69925600-69940000	Weak transcription	Hela-S3	cervix
7	chr14:69926000-69940000	Weak transcription	Brain Anterior Caudate	brain
8	chr14:69926000-69940000	Weak transcription	Fetal Intestine Small	intestine
9	chr14:69926200-69935200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr14:69926200-69937200	Weak transcription	Left Ventricle	heart
11	chr14:69927800-69939400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr14:69928000-69941000	Weak transcription	Stomach Smooth Muscle	stomach
13	chr14:69928400-69934400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr14:69928600-69935000	Weak transcription	Primary neutrophils fromperipheralblood	blood
15	chr14:69928600-69950600	Weak transcription	Aorta	Aorta
16	chr14:69928800-69940200	Weak transcription	Thymus	Thymus
17	chr14:69928800-69940400	Weak transcription	Adipose Nuclei	Adipose
18	chr14:69928800-69941000	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr14:69929000-69934000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr14:69929000-69934200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr14:69929000-69935200	Weak transcription	Primary monocytes fromperipheralblood	blood
22	chr14:69929000-69935800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr14:69929000-69938800	Weak transcription	Primary T cells fromperipheralblood	blood
24	chr14:69929000-69940200	Weak transcription	HSMMtube	muscle
25	chr14:69929000-69940400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr14:69929000-69941400	Weak transcription	Ovary	ovary
27	chr14:69929200-69935800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr14:69929400-69935200	Weak transcription	Primary hematopoietic stem cells	blood
29	chr14:69929400-69935800	Weak transcription	Fetal Lung	lung
30	chr14:69929400-69938800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr14:69929400-69940200	Weak transcription	Placenta	Placenta
32	chr14:69929800-69935200	Weak transcription	Monocytes-CD14+_RO01746	blood
33	chr14:69929800-69935600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr14:69931800-69938200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr14:69931800-69940000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr14:69932400-69935600	Weak transcription	HUVEC	blood vessel

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links