Variant report

Variant	rs60693297
Chromosome Location	chr1:185968384-185968385
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:185961557..185964345-chr1:185967553..185969394,2	K562	blood:
2	chr1:185966106..185968754-chr1:186180743..186183363,2	MCF-7	breast:
3	chr1:185965200..185970020-chr1:186119620..186123282,5	MCF-7	breast:
4	chr1:185778002..185779810-chr1:185967331..185968912,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000143341	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10911793	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10911794	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11803598	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12064448	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12072585	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12074224	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12079734	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs12082926	0.97[AFR][1000 genomes]
rs12087581	0.97[AFR][1000 genomes]
rs12091512	0.95[AFR][1000 genomes]
rs12094904	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16824824	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16824842	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16824847	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61417049	0.97[AFR][1000 genomes]
rs74134265	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs74134268	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74134271	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74134275	0.95[AFR][1000 genomes]
rs74134279	0.90[AFR][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	nsv548398	chr1:185136458-186003094	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
2	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

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:185934400-185974000	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr1:185934600-185969000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr1:185936600-185999000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr1:185938800-185990200	Weak transcription	Liver	Liver
5	chr1:185938800-185994600	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr1:185939000-185986000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr1:185939200-186023000	Weak transcription	Adipose Nuclei	Adipose
8	chr1:185959000-185979200	Weak transcription	Esophagus	oesophagus
9	chr1:185960200-185999000	Weak transcription	Fetal Lung	lung
10	chr1:185960400-185968600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr1:185960600-185977600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr1:185964200-185977600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr1:185964200-185979000	Weak transcription	Left Ventricle	heart
14	chr1:185964200-186014800	Weak transcription	Lung	lung
15	chr1:185964600-185979000	Weak transcription	Aorta	Aorta
16	chr1:185965600-185969000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr1:185965800-185983200	Weak transcription	NHDF-Ad	bronchial
18	chr1:185966000-185978200	Weak transcription	NH-A	brain
19	chr1:185967800-185974400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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