Variant report

Variant	rs12123389
Chromosome Location	chr1:186142073-186142074
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:186139865..186142101-chr1:186144863..186146945,2	K562	blood:
2	chr1:185782207..185784224-chr1:186141376..186143598,2	MCF-7	breast:
3	chr1:186138357..186140135-chr1:186140794..186142310,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000224691	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10911836	1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs11579683	0.93[ASN][1000 genomes]
rs11582026	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11583483	0.93[ASN][1000 genomes]
rs1322376	1.00[CHB][hapmap]
rs16825040	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2208692	1.00[CEU][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.87[MKK][hapmap];0.85[TSI][hapmap];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2383457	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56138834	0.83[AMR][1000 genomes]
rs56267286	0.88[EUR][1000 genomes]
rs6425021	0.82[GIH][hapmap];1.00[JPT][hapmap];0.83[TSI][hapmap];0.80[YRI][hapmap];0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6673026	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7549613	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7552106	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7554865	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.99[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7554872	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs911743	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3424090	chr1:185679718-186270877	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv1004481	chr1:186095854-186750968	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	nsv535223	chr1:186095854-186750968	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
4	nsv1007237	chr1:186137724-186226502	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:186114600-186160800	Weak transcription	Fetal Kidney	kidney
2	chr1:186133600-186160800	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr1:186133800-186147800	Weak transcription	Left Ventricle	heart
4	chr1:186134600-186152200	Weak transcription	NH-A	brain
5	chr1:186134800-186147000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr1:186135000-186146400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr1:186135000-186147800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr1:186136200-186152400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr1:186136200-186153200	Weak transcription	Fetal Lung	lung
10	chr1:186136200-186157600	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr1:186136800-186157000	Weak transcription	Aorta	Aorta
12	chr1:186137000-186152800	Weak transcription	Liver	Liver
13	chr1:186137200-186152000	Weak transcription	Adipose Nuclei	Adipose
14	chr1:186138200-186144400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr1:186138800-186144600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr1:186139200-186147600	Weak transcription	NHDF-Ad	bronchial
17	chr1:186140200-186148000	Weak transcription	Right Atrium	heart
18	chr1:186140400-186144400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr1:186140600-186144200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr1:186141400-186145800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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