Variant report

Variant	rs1957025
Chromosome Location	chr14:32936878-32936879
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	chr14:32936100..32938638-chr14:32940941..32943770,2	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:19)

rs_ID	r²[population]
rs11156744	1.00[JPT][hapmap]
rs11156747	0.85[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11623071	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12100892	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12100893	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12881167	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs12882489	0.85[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs12886529	0.84[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap]
rs12886735	0.93[ASN][1000 genomes]
rs12891308	1.00[JPT][hapmap]
rs12894356	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs17099168	1.00[YRI][hapmap]
rs17410904	0.85[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs1951187	0.85[CEU][hapmap];0.85[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.87[TSI][hapmap]
rs1957026	0.84[ASW][hapmap];0.96[CEU][hapmap];0.85[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34757755	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35901369	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs941745	0.85[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs941749	0.84[ASW][hapmap];0.96[CEU][hapmap];0.86[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.81[MKK][hapmap];0.95[TSI][hapmap];0.97[AMR][1000 genomes];0.94[EUR][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	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
3	nsv901595	chr14:32928634-32961434	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1957025	SCFD1	cis	parietal	SCAN

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:32930600-32937400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr14:32931000-32941400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr14:32936200-32937400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
4	chr14:32936200-32937600	Enhancers	Fetal Heart	heart
5	chr14:32936200-32942800	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr14:32936200-32942800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr14:32936400-32937000	Weak transcription	Brain Angular Gyrus	brain
8	chr14:32936400-32937000	Enhancers	Brain Inferior Temporal Lobe	brain
9	chr14:32936400-32938400	Enhancers	NHEK	skin
10	chr14:32936400-32943200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr14:32936400-32944800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr14:32936600-32939400	Enhancers	Colon Smooth Muscle	Colon
13	chr14:32936600-32941800	Enhancers	HMEC	breast
14	chr14:32936800-32937000	Enhancers	Brain Cingulate Gyrus	brain
15	chr14:32936800-32937000	Enhancers	Brain Substantia Nigra	brain
16	chr14:32936800-32937000	Enhancers	Rectal Smooth Muscle	rectum
17	chr14:32936800-32937000	Enhancers	HSMMtube	muscle
18	chr14:32936800-32937400	Enhancers	Aorta	Aorta
19	chr14:32936800-32941200	Enhancers	Brain Anterior Caudate	brain
20	chr14:32936800-32942200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr14:32936800-32944000	Enhancers	Cortex derived primary cultured neurospheres	brain

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