Variant report

Variant	rs60727700
Chromosome Location	chr1:114578412-114578413
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:114573784..114577041-chr1:114577163..114579413,3	MCF-7	breast:
2	chr1:114577056..114579380-chr1:114582977..114584723,3	MCF-7	breast:
3	chr1:114543887..114546791-chr1:114577396..114579805,2	MCF-7	breast:
4	chr1:114575962..114577574-chr1:114577976..114579706,2	MCF-7	breast:
5	chr1:114577897..114580371-chr1:114581560..114584344,2	MCF-7	breast:
6	chr1:114574403..114579108-chr1:114596233..114599527,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000270780	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs11102717	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11102718	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11102723	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12060342	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12060704	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12061788	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12062241	1.00[AMR][1000 genomes]
rs12076115	1.00[AMR][1000 genomes]
rs12079394	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12085980	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12087525	1.00[AMR][1000 genomes]
rs12087807	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12091375	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12094896	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12097968	1.00[AFR][1000 genomes]
rs12098025	1.00[AFR][1000 genomes]
rs57823986	1.00[AMR][1000 genomes]
rs58203825	1.00[AMR][1000 genomes]
rs60420764	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6690665	1.00[AMR][1000 genomes]
rs74112072	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74112073	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74112550	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74112551	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74112552	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74112553	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74113350	1.00[AMR][1000 genomes]
rs7515723	1.00[AMR][1000 genomes]
rs7527367	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7529237	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7529814	1.00[AFR][1000 genomes];1.00[AMR][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	esv2752424	chr1:114189958-114712958	Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	esv2754686	chr1:114531958-114602958	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	esv1849780	chr1:114577463-114663164	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:114576000-114579400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:114576000-114580200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr1:114576000-114582800	Weak transcription	HSMMtube	muscle
4	chr1:114576000-114583400	Weak transcription	Lung	lung
5	chr1:114576400-114579000	Weak transcription	Fetal Muscle Leg	muscle
6	chr1:114576600-114580400	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr1:114576600-114582800	Weak transcription	Fetal Intestine Large	intestine
8	chr1:114576800-114578800	Weak transcription	Fetal Intestine Small	intestine
9	chr1:114577000-114580800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr1:114577200-114580600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr1:114577200-114583200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr1:114577400-114578800	Weak transcription	Primary monocytes fromperipheralblood	blood
13	chr1:114577400-114580800	Weak transcription	NHEK	skin
14	chr1:114577400-114582000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr1:114577600-114579000	Weak transcription	Monocytes-CD14+_RO01746	blood
16	chr1:114577600-114580200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr1:114577600-114580800	Weak transcription	HMEC	breast
18	chr1:114577800-114578600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
19	chr1:114577800-114583000	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr1:114578000-114579000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr1:114578000-114580200	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr1:114578000-114582200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr1:114578200-114578600	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr1:114578200-114578600	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr1:114578200-114579000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr1:114578200-114583000	Enhancers	H9 Cell Line	embryonic stem cell
27	chr1:114578400-114579400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr1:114578400-114580200	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr1:114578400-114580200	Enhancers	iPS-15b Cell Line	embryonic stem cell
30	chr1:114578400-114580200	Enhancers	iPS-20b Cell Line	embryonic stem cell

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