Variant report

Variant	rs1951187
Chromosome Location	chr14:32908192-32908193
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:32902258..32904086-chr14:32906783..32908979,2	MCF-7	breast:
2	chr14:32908071..32910208-chr14:32913357..32914973,2	K562	blood:

Variant related genes	Relation type
ENSG00000151320	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11156744	1.00[JPT][hapmap]
rs11156747	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11621072	0.85[CHB][hapmap]
rs11622937	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11623071	1.00[ASN][1000 genomes]
rs12881167	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12882489	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.84[MKK][hapmap];1.00[ASN][1000 genomes]
rs12886529	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12886735	0.86[ASN][1000 genomes]
rs12891308	1.00[JPT][hapmap]
rs12894356	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17410904	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.84[MKK][hapmap];1.00[ASN][1000 genomes]
rs1957025	0.85[CEU][hapmap];0.85[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.87[TSI][hapmap]
rs1957026	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.86[TSI][hapmap]
rs2383304	1.00[ASN][1000 genomes]
rs34757755	1.00[ASN][1000 genomes]
rs34976846	1.00[ASN][1000 genomes]
rs61981143	1.00[ASN][1000 genomes]
rs941745	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs941749	0.88[CEU][hapmap];0.87[TSI][hapmap];1.00[ASN][1000 genomes]

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	esv2758352	chr14:32858480-33016442	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	esv2759978	chr14:32858480-33016442	Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1951187	SCFD1	cis	parietal	SCAN

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:32897600-32908400	Weak transcription	Fetal Brain Female	brain
2	chr14:32898200-32908200	Weak transcription	Right Atrium	heart
3	chr14:32898400-32908400	Weak transcription	Psoas Muscle	Psoas
4	chr14:32899000-32913400	Weak transcription	Fetal Lung	lung
5	chr14:32903000-32910200	Weak transcription	Esophagus	oesophagus
6	chr14:32903400-32908200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr14:32903600-32908600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr14:32904400-32908600	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr14:32904600-32913400	Weak transcription	Brain Germinal Matrix	brain
10	chr14:32905400-32908400	Enhancers	Brain Substantia Nigra	brain
11	chr14:32905600-32908600	Enhancers	Brain Angular Gyrus	brain
12	chr14:32905800-32908200	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr14:32905800-32908600	Enhancers	Brain Cingulate Gyrus	brain
14	chr14:32906000-32908600	Enhancers	Brain Hippocampus Middle	brain
15	chr14:32906200-32908200	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr14:32906400-32908600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
17	chr14:32906400-32909000	Enhancers	Left Ventricle	heart
18	chr14:32906600-32908400	Weak transcription	Right Ventricle	heart
19	chr14:32906600-32908600	Enhancers	Brain Inferior Temporal Lobe	brain
20	chr14:32907200-32908600	Enhancers	Rectal Smooth Muscle	rectum
21	chr14:32907200-32908600	Flanking Active TSS	GM12878-XiMat	blood
22	chr14:32907400-32908600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr14:32907400-32909000	Enhancers	Fetal Heart	heart
24	chr14:32907800-32908600	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr14:32907800-32908600	Enhancers	Skeletal Muscle Male	skeletal muscle
26	chr14:32907800-32910000	Weak transcription	Aorta	Aorta
27	chr14:32908000-32908200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr14:32908000-32908200	Flanking Active TSS	Brain Anterior Caudate	brain
29	chr14:32908000-32908400	Flanking Active TSS	Colon Smooth Muscle	Colon
30	chr14:32908000-32908400	Flanking Active TSS	Stomach Smooth Muscle	stomach
31	chr14:32908000-32908600	Enhancers	Small Intestine	intestine
32	chr14:32908000-32909000	Enhancers	Ovary	ovary

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