Variant report

Variant	rs913947
Chromosome Location	chr13:110356731-110356732
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:110355348..110357050-chr13:110370423..110373303,2	K562	blood:
2	chr13:110355569..110358710-chr13:110439541..110442319,3	MCF-7	breast:
3	chr13:110356090..110357900-chr13:110437295..110440917,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000185950	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1411552	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1550044	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1556225	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1928937	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4773073	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7336416	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7990738	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8000638	0.94[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs892672	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs913952	0.94[CEU][hapmap];0.88[CHB][hapmap];0.81[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap];0.87[YRI][hapmap];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9301407	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9521489	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[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	nsv1051686	chr13:110283468-110362954	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv1044855	chr13:110301572-110408608	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs913947	ABHD13	cis	parietal	SCAN

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:110347600-110356800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr13:110352400-110357600	Weak transcription	Colonic Mucosa	Colon
3	chr13:110352800-110356800	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr13:110352800-110356800	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr13:110352800-110356800	Weak transcription	A549	lung
6	chr13:110352800-110357400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr13:110352800-110357600	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr13:110352800-110357600	Weak transcription	HMEC	breast
9	chr13:110353000-110357600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr13:110353200-110357200	Weak transcription	Fetal Thymus	thymus
11	chr13:110353200-110357400	Weak transcription	Primary T cells from cord blood	blood
12	chr13:110353200-110357600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr13:110353800-110356800	Weak transcription	Duodenum Mucosa	Duodenum
14	chr13:110356000-110357000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
15	chr13:110356000-110359200	Genic enhancers	Dnd41	blood
16	chr13:110356200-110356800	Enhancers	Primary neutrophils fromperipheralblood	blood
17	chr13:110356400-110356800	ZNF genes & repeats	Fetal Intestine Small	intestine
18	chr13:110356400-110357000	Enhancers	Liver	Liver
19	chr13:110356400-110357000	ZNF genes & repeats	Spleen	Spleen
20	chr13:110356400-110357000	Enhancers	Hela-S3	cervix
21	chr13:110356400-110357400	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr13:110356600-110356800	Enhancers	Monocytes-CD14+_RO01746	blood
23	chr13:110356600-110357200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr13:110356600-110357400	Enhancers	Primary B cells from cord blood	blood
25	chr13:110356600-110357400	Enhancers	Primary hematopoietic stem cells	blood

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