Variant report

Variant	rs12748557
Chromosome Location	chr1:168702847-168702848
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:168701933..168707836-chr1:169074418..169079028,9	MCF-7	breast:
2	chr1:168701343..168703439-chr1:168705910..168708236,3	K562	blood:

Variant related genes	Relation type
ENSG00000143153	Chromatin interaction

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs1018453	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1052591	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12563398	0.94[ASN][1000 genomes]
rs12567476	0.90[ASN][1000 genomes]
rs12568207	0.94[ASN][1000 genomes]
rs12724380	0.92[ASN][1000 genomes]
rs12728858	0.94[ASN][1000 genomes]
rs12731369	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12735097	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12742262	0.94[ASN][1000 genomes]
rs12755391	0.94[ASN][1000 genomes]
rs1555206	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1556790	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1556791	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1556792	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1556793	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17569416	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs1765516	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1765517	0.89[ASN][1000 genomes]
rs1989300	0.94[ASN][1000 genomes]
rs2206288	0.94[ASN][1000 genomes]
rs2206289	0.94[ASN][1000 genomes]
rs2206290	0.94[ASN][1000 genomes]
rs2223478	0.94[ASN][1000 genomes]
rs2744658	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs2744659	0.94[ASN][1000 genomes]
rs2744661	0.94[ASN][1000 genomes]
rs2786760	0.91[ASN][1000 genomes]
rs472668	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs484025	0.94[ASN][1000 genomes]
rs485109	0.94[ASN][1000 genomes]
rs485855	0.94[ASN][1000 genomes]
rs489585	0.94[ASN][1000 genomes]
rs525275	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs534139	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs538714	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs542198	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs552859	0.84[CHB][hapmap]
rs555676	0.94[ASN][1000 genomes]
rs609629	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs610403	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs623949	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs625712	0.94[ASN][1000 genomes]
rs627872	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs628718	0.83[CHB][hapmap]
rs6427147	0.81[ASN][1000 genomes]
rs6427148	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs6427149	0.93[ASN][1000 genomes]
rs655128	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs656919	0.94[ASN][1000 genomes]
rs6656646	0.94[ASN][1000 genomes]
rs6666079	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6678818	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6693709	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6697889	0.94[ASN][1000 genomes]
rs6701299	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs672950	0.94[ASN][1000 genomes]
rs686610	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs731949	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs734123	0.94[ASN][1000 genomes]
rs7534485	0.94[ASN][1000 genomes]
rs760912	0.94[ASN][1000 genomes]
rs760913	0.94[ASN][1000 genomes]
rs761519	0.89[CEU][hapmap];0.84[CHB][hapmap];0.85[EUR][1000 genomes]
rs763433	0.94[ASN][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	nsv869415	chr1:168467284-169153863	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
2	nsv831836	chr1:168538779-168716956	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv831847	chr1:168669877-168850129	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:168698400-168703400	Weak transcription	Psoas Muscle	Psoas
2	chr1:168698400-168705800	Weak transcription	Left Ventricle	heart
3	chr1:168698400-168707400	Weak transcription	Aorta	Aorta
4	chr1:168698800-168704400	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr1:168699000-168703200	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr1:168699000-168703400	Weak transcription	Fetal Muscle Leg	muscle
7	chr1:168699000-168704000	Weak transcription	Fetal Lung	lung
8	chr1:168699000-168704400	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr1:168699200-168703400	Weak transcription	Fetal Stomach	stomach
10	chr1:168699200-168703400	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr1:168699200-168706600	Weak transcription	Placenta	Placenta
12	chr1:168699400-168703400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr1:168701000-168703600	Enhancers	Fetal Heart	heart
14	chr1:168701000-168710800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr1:168701800-168703200	Weak transcription	Colon Smooth Muscle	Colon
16	chr1:168701800-168720400	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr1:168702000-168704200	Enhancers	Rectal Smooth Muscle	rectum
18	chr1:168702800-168703200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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