Variant report

Variant	rs74112553
Chromosome Location	chr1:114576860-114576861
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:19)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr1:114576305..114576992-chr1:114632415..114633398,6	MCF-7	breast:
2	chr1:114519045..114519788-chr1:114576300..114577157,2	MCF-7	breast:
3	chr1:114534979..114536505-chr1:114575410..114577560,2	MCF-7	breast:
4	chr1:114542743..114543294-chr1:114576534..114577039,2	MCF-7	breast:
5	chr1:114524538..114527431-chr1:114576171..114578316,2	MCF-7	breast:
6	chr1:114576357..114577173-chr1:114585486..114586359,3	MCF-7	breast:
7	chr1:114569420..114571718-chr1:114573610..114578040,4	MCF-7	breast:
8	chr1:114575048..114578122-chr1:114756495..114758654,3	MCF-7	breast:
9	chr1:114572795..114577655-chr1:114580622..114587867,10	MCF-7	breast:
10	chr1:114518951..114519800-chr1:114576379..114577180,4	MCF-7	breast:
11	chr1:114575470..114578189-chr1:114589215..114591996,2	MCF-7	breast:
12	chr1:114575353..114578271-chr1:114615891..114617470,2	MCF-7	breast:
13	chr1:114575962..114577574-chr1:114577976..114579706,2	MCF-7	breast:
14	chr1:114576348..114577159-chr1:114585475..114586359,3	MCF-7	breast:
15	chr1:114575585..114577385-chr9:88968355..88970269,2	MCF-7	breast:
16	chr1:114574805..114577310-chr16:67192627..67195082,2	MCF-7	breast:
17	chr1:114520498..114523229-chr1:114575695..114578071,3	MCF-7	breast:
18	chr1:114574403..114579108-chr1:114596233..114599527,4	MCF-7	breast:
19	chr1:114573784..114577041-chr1:114577163..114579413,3	MCF-7	breast:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-OLFML3-2	chr1:114574961-114577268	NONHSAT005352

No data

Variant related genes	Relation type
ENSG00000083223	Chromatin interaction
ENSG00000116774	Chromatin interaction
ENSG00000102871	Chromatin interaction
ENSG00000135722	Chromatin interaction

Extended variants
information (count: 33 )
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]
rs60727700	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]
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:2 , 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

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:114574800-114577400	Enhancers	Muscle Satellite Cultured Cells	--
2	chr1:114575000-114577000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr1:114575000-114577200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr1:114575000-114577200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr1:114575000-114577400	Enhancers	NHEK	skin
6	chr1:114575000-114577600	Enhancers	HMEC	breast
7	chr1:114575000-114577800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
8	chr1:114575000-114578000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
9	chr1:114575000-114578400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
10	chr1:114575000-114578400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
11	chr1:114575200-114577200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr1:114575200-114578400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
13	chr1:114575400-114577400	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr1:114575400-114577600	Enhancers	Monocytes-CD14+_RO01746	blood
15	chr1:114575800-114577200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr1:114575800-114577400	Active TSS	H9 Cell Line	embryonic stem cell
17	chr1:114575800-114577800	Active TSS	ES-I3 Cell Line	embryonic stem cell
18	chr1:114576000-114577000	Active TSS	HUES6 Cell Line	embryonic stem cell
19	chr1:114576000-114577200	Active TSS	H1 Cell Line	embryonic stem cell
20	chr1:114576000-114577600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr1:114576000-114577800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr1:114576000-114579400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr1:114576000-114580200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr1:114576000-114582800	Weak transcription	HSMMtube	muscle
25	chr1:114576000-114583400	Weak transcription	Lung	lung
26	chr1:114576200-114577000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
27	chr1:114576200-114577200	Weak transcription	NHDF-Ad	bronchial
28	chr1:114576400-114577200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr1:114576400-114577600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr1:114576400-114579000	Weak transcription	Fetal Muscle Leg	muscle
31	chr1:114576600-114580400	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr1:114576600-114582800	Weak transcription	Fetal Intestine Large	intestine
33	chr1:114576800-114578400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
34	chr1:114576800-114578800	Weak transcription	Fetal Intestine Small	intestine

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