Variant report

Variant	rs59651124
Chromosome Location	chr1:154168200-154168201
allele	G/T
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:154168018..154170981-chr1:154173798..154176405,2	MCF-7	breast:
2	chr1:154153141..154174161-chr1:154187746..154196033,47	MCF-7	breast:
3	chr1:154161421..154168420-chr1:154191340..154198003,13	MCF-7	breast:
4	chr1:153934849..153937744-chr1:154167271..154169593,2	MCF-7	breast:
5	chr1:154167875..154171045-chr1:154242711..154246150,3	MCF-7	breast:
6	chr1:154166360..154171923-chr1:154189576..154194577,9	K562	blood:
7	chr1:154162762..154164627-chr1:154167547..154169512,2	K562	blood:
8	chr1:154162854..154164787-chr1:154165144..154168912,5	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000143575	Chromatin interaction
ENSG00000143569	Chromatin interaction
ENSG00000143612	Chromatin interaction
ENSG00000143570	Chromatin interaction
ENSG00000143549	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs1113142	1.00[EUR][1000 genomes]
rs11265605	1.00[EUR][1000 genomes]
rs11802893	0.88[AFR][1000 genomes]
rs1194591	1.00[EUR][1000 genomes]
rs1194594	1.00[EUR][1000 genomes]
rs1194597	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1194601	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1194605	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1205590	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs16835909	1.00[EUR][1000 genomes]
rs1685625	1.00[EUR][1000 genomes]
rs1685626	1.00[EUR][1000 genomes]
rs1760791	0.91[AFR][1000 genomes]
rs1817688	1.00[EUR][1000 genomes]
rs2340487	1.00[EUR][1000 genomes]
rs2500222	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2633434	1.00[EUR][1000 genomes]
rs4406621	1.00[EUR][1000 genomes]
rs4620534	0.86[AFR][1000 genomes]
rs4845369	1.00[EUR][1000 genomes]
rs55649582	1.00[EUR][1000 genomes]
rs55650526	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55664806	1.00[EUR][1000 genomes]
rs55857358	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs56752149	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56760430	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57011078	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59310765	1.00[EUR][1000 genomes]
rs60506384	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60743909	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6666943	1.00[EUR][1000 genomes]
rs715737	1.00[EUR][1000 genomes]
rs7527520	1.00[EUR][1000 genomes]
rs7547692	1.00[EUR][1000 genomes]
rs7556118	1.00[EUR][1000 genomes]
rs9804125	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999364	chr1:153622634-154419436	Strong transcription Genic enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	286 gene(s)	inside rSNPs	diseases
2	nsv535175	chr1:153622634-154419436	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	286 gene(s)	inside rSNPs	diseases
3	nsv532551	chr1:153732039-154192279	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	233 gene(s)	inside rSNPs	diseases
4	esv1830240	chr1:153885261-154370938	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	239 gene(s)	inside rSNPs	diseases
5	nsv948413	chr1:153974621-154797272	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
6	nsv1000402	chr1:153991106-154527053	Strong transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	106 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	chr1:154159000-154184400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:154160400-154169400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr1:154163200-154169400	Weak transcription	Fetal Heart	heart
4	chr1:154163800-154178800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr1:154164600-154178800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr1:154164800-154178200	Weak transcription	Lung	lung
7	chr1:154164800-154178400	Weak transcription	Ovary	ovary
8	chr1:154165200-154177800	Weak transcription	Placenta	Placenta
9	chr1:154165800-154178400	Weak transcription	Psoas Muscle	Psoas
10	chr1:154166800-154169000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr1:154166800-154169000	Weak transcription	HMEC	breast
12	chr1:154166800-154169200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr1:154166800-154169400	Weak transcription	Hela-S3	cervix
14	chr1:154166800-154169600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr1:154166800-154171800	Weak transcription	HSMM	muscle
16	chr1:154166800-154171800	Weak transcription	HSMMtube	muscle
17	chr1:154166800-154172000	Weak transcription	Pancreas	Pancrea
18	chr1:154166800-154177800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr1:154167000-154169000	Weak transcription	NHEK	skin
20	chr1:154167000-154169600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr1:154167000-154169800	Enhancers	Skeletal Muscle Male	skeletal muscle
22	chr1:154167000-154178600	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr1:154167200-154177800	Weak transcription	Fetal Muscle Trunk	muscle
24	chr1:154167400-154171600	Weak transcription	Monocytes-CD14+_RO01746	blood
25	chr1:154167400-154171800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr1:154167600-154168200	Enhancers	Skeletal Muscle Female	skeletal muscle
27	chr1:154167600-154168200	Enhancers	HepG2	liver
28	chr1:154167600-154171600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr1:154167600-154171800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr1:154167600-154177200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr1:154167800-154171800	Weak transcription	Primary monocytes fromperipheralblood	blood
32	chr1:154167800-154178800	Weak transcription	Primary hematopoietic stem cells	blood
33	chr1:154168200-154169400	Weak transcription	HepG2	liver
34	chr1:154168200-154169600	Weak transcription	Skeletal Muscle Female	skeletal muscle

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