Variant report

Variant	rs60358932
Chromosome Location	chr1:179202023-179202024
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr1:179201654-179202115	K562	blood:	n/a	chr1:179202003-179202014 chr1:179202003-179202014 chr1:179202003-179202016
2	CEBPB	chr1:179201691-179202065	Hela-S3	cervix:	n/a	chr1:179202003-179202014 chr1:179202003-179202014 chr1:179202003-179202016

No.	Distal block	Cell Line	Cell type
1	chr1:179198171..179200339-chr1:179200628..179202666,2	MCF-7	breast:
2	chr1:179198578..179200857-chr1:179201738..179204176,2	K562	blood:
3	chr1:179050126..179052698-chr1:179201088..179202992,3	K562	blood:
4	chr1:179194698..179198189-chr1:179199454..179203395,4	K562	blood:

Variant related genes	Relation type
ABL2	TF binding region
ENSG00000186283	Chromatin interaction
ENSG00000143322	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10913704	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11584312	0.83[AMR][1000 genomes]
rs11584434	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12120194	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12122267	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12126360	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12127868	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12128338	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12128447	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12128920	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs12132268	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12133704	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12133855	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12133900	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12134611	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12140256	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12145184	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1318056	0.83[AMR][1000 genomes]
rs17362373	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28913570	0.83[AMR][1000 genomes]
rs57903944	0.81[ASN][1000 genomes]
rs73038859	0.83[AMR][1000 genomes]
rs73038874	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73038878	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73044740	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73044744	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73044747	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73044749	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73044753	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73044761	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73044765	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73044767	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73044776	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73044778	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73044802	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005278	chr1:179197645-179371395	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:179199400-179210000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr1:179199600-179203000	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr1:179199800-179204600	Enhancers	Hela-S3	cervix
4	chr1:179200200-179202400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr1:179200200-179203000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr1:179200200-179203000	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr1:179201200-179202200	Enhancers	Primary neutrophils fromperipheralblood	blood
8	chr1:179201200-179202800	Enhancers	NH-A	brain
9	chr1:179201200-179203000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr1:179201200-179204400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr1:179201200-179204400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr1:179201200-179204600	Enhancers	HMEC	breast
13	chr1:179201200-179204600	Enhancers	NHEK	skin
14	chr1:179201600-179202400	Enhancers	A549	lung
15	chr1:179201600-179202400	Weak transcription	HSMM	muscle
16	chr1:179201600-179202600	Weak transcription	HUVEC	blood vessel
17	chr1:179201600-179202600	Weak transcription	NHLF	lung
18	chr1:179201600-179203000	Weak transcription	NHDF-Ad	bronchial
19	chr1:179201600-179203000	Weak transcription	Osteobl	bone
20	chr1:179201600-179203600	Weak transcription	HepG2	liver
21	chr1:179201600-179203600	Weak transcription	K562	blood
22	chr1:179201800-179203600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr1:179201800-179203600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr1:179202000-179202600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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