Variant report

Variant	rs1325738
Chromosome Location	chr1:62759959-62759960
allele	A/C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:62695851..62696415-chr1:62759671..62760258,2	MCF-7	breast:
2	chr1:62759537..62760142-chr1:62872912..62873611,2	MCF-7	breast:
3	chr1:62759279..62761889-chr1:62763662..62766108,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000201153	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10889316	0.95[CHB][hapmap]
rs11207950	0.85[CHB][hapmap]
rs11579934	0.85[CHB][hapmap]
rs11584786	0.85[CHB][hapmap]
rs12127930	0.90[CHB][hapmap]
rs1886830	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.83[JPT][hapmap];0.90[MEX][hapmap];0.95[TSI][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1925825	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1925827	0.85[CEU][hapmap]
rs2666467	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2765254	0.88[CEU][hapmap];1.00[CHB][hapmap];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2765255	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[MEX][hapmap];0.87[TSI][hapmap];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2765260	1.00[CEU][hapmap];1.00[CHB][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2765262	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.83[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3850633	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3903928	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4915810	1.00[CHB][hapmap];0.97[CHD][hapmap];0.91[ASN][1000 genomes]
rs6680736	0.85[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.85[MEX][hapmap];0.91[ASN][1000 genomes]
rs6691591	0.85[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.80[MEX][hapmap];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1004446	chr1:62394631-62813533	Enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
2	nsv534984	chr1:62394631-62813533	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
3	nsv1009398	chr1:62656660-62780644	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1013582	chr1:62723703-62910632	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	31 gene(s)	inside rSNPs	diseases
5	nsv431712	chr1:62759369-62766001	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1325738	DAB1	cis	cerebellum	SCAN

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:62753200-62760000	Weak transcription	Fetal Stomach	stomach
2	chr1:62753200-62761600	Weak transcription	Pancreas	Pancrea
3	chr1:62753200-62761600	Weak transcription	Right Atrium	heart
4	chr1:62754200-62760200	Weak transcription	Placenta	Placenta
5	chr1:62754400-62773400	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr1:62754800-62765200	Weak transcription	Fetal Heart	heart
7	chr1:62755600-62761000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr1:62756200-62765000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr1:62756400-62764800	Weak transcription	HepG2	liver
10	chr1:62757800-62760000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr1:62758400-62760000	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr1:62759600-62760200	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr1:62759800-62760000	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr1:62759800-62760000	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr1:62759800-62760000	Enhancers	HSMMtube	muscle
16	chr1:62759800-62760200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr1:62759800-62760200	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr1:62759800-62760400	Enhancers	HMEC	breast
19	chr1:62759800-62760600	Enhancers	H9 Cell Line	embryonic stem cell
20	chr1:62759800-62760600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr1:62759800-62761800	Enhancers	Fetal Muscle Trunk	muscle
22	chr1:62759800-62765400	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr1:62759800-62770800	Enhancers	Fetal Muscle Leg	muscle

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