Variant report

Variant	rs1539494
Chromosome Location	chr1:151447105-151447106
allele	A/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:22)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:22 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:151444548..151447673-chr1:151481775..151485928,8	MCF-7	breast:
2	chr1:151226548..151228437-chr1:151446721..151448882,2	MCF-7	breast:
3	chr1:151427933..151434225-chr1:151443087..151450932,17	K562	blood:
4	1:151427826-151434310..1:151443030-151447169	H1-hESC	embryonic stem cell:	embryo
5	1:151443030-151447169..1:151618750-151636526	Hela-S3	cervix:
6	chr1:151445312..151448183-chr1:151483210..151485583,5	MCF-7	breast:
7	chr1:151444404..151447140-chr1:151510457..151513619,3	MCF-7	breast:
8	chr1:151429107..151437905-chr1:151438450..151450094,72	MCF-7	breast:
9	1:151443030-151447169..1:151496437-151509688	Hela-S3	cervix:
10	chr1:151444671..151447654-chr1:151480134..151482733,3	MCF-7	breast:
11	chr1:151444465..151447318-chr1:151507808..151509485,2	MCF-7	breast:
12	chr1:151440353..151442706-chr1:151445667..151448207,3	K562	blood:
13	chr1:151442862..151444708-chr1:151446075..151448070,2	MCF-7	breast:
14	chr1:151446557..151449406-chr1:151463511..151465918,2	MCF-7	breast:
15	chr1:151445969..151447934-chr1:151453255..151456179,2	MCF-7	breast:
16	chr1:151444637..151447163-chr1:151517177..151519450,2	MCF-7	breast:
17	chr1:151254773..151257432-chr1:151445830..151447549,2	MCF-7	breast:
18	1:151270864-151283078..1:151443030-151447169	Hela-S3	cervix:
19	chr1:151429378..151433399-chr1:151443087..151448968,15	K562	blood:
20	chr1:151428774..151440655-chr1:151441400..151449246,52	MCF-7	breast:
21	1:151411623-151426875..1:151443030-151447169	H1-hESC	embryonic stem cell:	embryo
22	1:151443030-151447169..1:151516085-151535167	H1-hESC	embryonic stem cell:	embryo

No data

Variant related genes	Relation type
ENSG00000223861	Chromatin interaction
ENSG00000159352	Chromatin interaction
ENSG00000143373	Chromatin interaction
ENSG00000265753	Chromatin interaction
ENSG00000252840	Chromatin interaction
ENSG00000143442	Chromatin interaction
ENSG00000207606	Chromatin interaction
ENSG00000143375	Chromatin interaction
ENSG00000143376	Chromatin interaction
ENSG00000232536	Chromatin interaction
ENSG00000143367	Chromatin interaction
ENSG00000143393	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs2479381	1.00[AMR][1000 genomes]
rs2479384	1.00[AMR][1000 genomes]
rs2479386	1.00[AMR][1000 genomes]
rs2495379	1.00[AMR][1000 genomes]
rs2495390	1.00[AMR][1000 genomes]
rs2495391	1.00[AMR][1000 genomes]
rs3001839	1.00[AMR][1000 genomes]
rs4246528	1.00[AMR][1000 genomes]
rs4970952	1.00[AMR][1000 genomes]
rs6667714	1.00[AMR][1000 genomes]
rs6683010	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	nsv916272	chr1:150961809-151557253	Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	219 gene(s)	inside rSNPs	diseases
2	nsv831581	chr1:151289151-151478605	Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 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	chr1:151445200-151447400	Enhancers	Fetal Heart	heart
2	chr1:151446200-151447200	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr1:151446200-151447400	Enhancers	GM12878-XiMat	blood
4	chr1:151446200-151447600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr1:151446200-151449800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr1:151446200-151450600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr1:151446400-151447200	Enhancers	Brain Cingulate Gyrus	brain
8	chr1:151446400-151447200	Weak transcription	NHEK	skin
9	chr1:151446400-151447600	Weak transcription	Brain Hippocampus Middle	brain
10	chr1:151446400-151451000	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr1:151446600-151447200	Weak transcription	Brain Substantia Nigra	brain
12	chr1:151446600-151447200	Weak transcription	Fetal Stomach	stomach
13	chr1:151446600-151449200	Weak transcription	Right Atrium	heart
14	chr1:151446600-151450600	Weak transcription	Fetal Intestine Large	intestine
15	chr1:151446600-151450800	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr1:151446600-151452200	Weak transcription	A549	lung
17	chr1:151447000-151447800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr1:151447000-151448000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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