Variant report

Variant	rs227389
Chromosome Location	chr14:70401143-70401144
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:70400669..70402672-chr14:70439209..70441810,2	K562	blood:
2	chr14:70399354..70401514-chr14:70407995..70410127,2	K562	blood:

Extended variants
information (count: 6 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs170568	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];0.84[MEX][hapmap];0.94[TSI][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs227390	0.88[CHB][hapmap];0.88[CHD][hapmap]
rs227399	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.91[TSI][hapmap];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv456336	chr14:70081956-70574149	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
2	nsv565007	chr14:70081956-70574149	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
3	nsv832824	chr14:70320639-70511401	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs227389	SMOC1	cis	cerebellum	SCAN
rs227389	GALNTL1	cis	parietal	SCAN

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70395000-70402400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr14:70395200-70404200	Weak transcription	Spleen	Spleen
3	chr14:70395600-70404400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr14:70396000-70404200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr14:70397400-70406400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr14:70398200-70402000	Weak transcription	Psoas Muscle	Psoas
7	chr14:70398400-70409400	Enhancers	Liver	Liver
8	chr14:70398800-70403000	Weak transcription	Placenta	Placenta
9	chr14:70399400-70407200	Weak transcription	Brain Substantia Nigra	brain
10	chr14:70399600-70406400	Strong transcription	Hela-S3	cervix
11	chr14:70399600-70409600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr14:70400200-70404800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr14:70400400-70402000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr14:70400600-70401200	Genic enhancers	Cortex derived primary cultured neurospheres	brain
15	chr14:70400600-70401400	Genic enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr14:70400600-70402800	Weak transcription	HepG2	liver
17	chr14:70400800-70401200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr14:70400800-70401200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr14:70400800-70401200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr14:70400800-70403000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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