Variant report

Variant	rs12718869
Chromosome Location	chr7:50811885-50811886
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	chr7:50804663..50812652-chr7:50812790..50817860,10	K562	blood:

Variant related genes	Relation type
ENSG00000106070	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs35876172	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62447566	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62447585	0.86[AFR][1000 genomes]
rs6593185	0.92[CEU][hapmap];0.89[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016665	chr7:50452552-51404524	Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv1031138	chr7:50651793-50814881	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12718869	FIGNL1	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:50788000-50816000	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr7:50798000-50812000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr7:50798600-50822600	Weak transcription	Ovary	ovary
4	chr7:50798800-50815200	Weak transcription	Aorta	Aorta
5	chr7:50798800-50815200	Weak transcription	Stomach Smooth Muscle	stomach
6	chr7:50798800-50824800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr7:50798800-50832400	Weak transcription	HSMM	muscle
8	chr7:50798800-50837200	Weak transcription	HSMMtube	muscle
9	chr7:50799000-50815200	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr7:50799000-50817400	Weak transcription	Rectal Smooth Muscle	rectum
11	chr7:50799000-50823000	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr7:50801600-50814400	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr7:50802000-50814200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr7:50802200-50815600	Weak transcription	Placenta	Placenta
15	chr7:50802600-50813200	Weak transcription	Hela-S3	cervix
16	chr7:50802600-50824000	Weak transcription	NH-A	brain
17	chr7:50802800-50814400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr7:50807600-50821800	Weak transcription	Fetal Muscle Trunk	muscle
19	chr7:50807800-50821800	Weak transcription	Esophagus	oesophagus
20	chr7:50807800-50834800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr7:50808000-50813600	Weak transcription	Right Ventricle	heart
22	chr7:50808000-50813800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr7:50808000-50814400	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr7:50808000-50814400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr7:50808000-50814400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr7:50808000-50814400	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr7:50808000-50814600	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr7:50808000-50815400	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr7:50808000-50815600	Weak transcription	Fetal Lung	lung
30	chr7:50808000-50816000	Weak transcription	HepG2	liver
31	chr7:50808000-50817600	Weak transcription	Colon Smooth Muscle	Colon
32	chr7:50808000-50818400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr7:50808000-50818600	Weak transcription	Brain Cingulate Gyrus	brain
34	chr7:50808000-50821200	Weak transcription	Primary neutrophils fromperipheralblood	blood
35	chr7:50808000-50821600	Weak transcription	Gastric	stomach
36	chr7:50808000-50827200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr7:50808000-50829400	Weak transcription	Small Intestine	intestine
38	chr7:50808000-50832400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr7:50808000-50835800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr7:50808200-50814600	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr7:50808200-50815000	Weak transcription	Brain Anterior Caudate	brain
42	chr7:50808200-50815200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr7:50808200-50815400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr7:50808200-50818800	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr7:50808200-50834200	Weak transcription	Brain Angular Gyrus	brain
46	chr7:50808600-50813000	Weak transcription	HUVEC	blood vessel
47	chr7:50808600-50818800	Weak transcription	Brain Hippocampus Middle	brain
48	chr7:50808800-50813800	Weak transcription	A549	lung
49	chr7:50809000-50821400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr7:50809200-50814600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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