Variant report

Variant	rs483360
Chromosome Location	chr1:120200606-120200607
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:120176290..120178351-chr1:120198069..120200672,2	MCF-7	breast:
2	chr1:120199380..120201212-chr1:120217819..120219932,2	MCF-7	breast:
3	chr1:120181739..120184081-chr1:120198210..120201603,3	K562	blood:
4	chr1:120188687..120197065-chr1:120197482..120205927,19	MCF-7	breast:

Variant related genes	Relation type
ENSG00000143067	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs1163251	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2764886	0.85[EUR][1000 genomes]
rs478450	0.81[EUR][1000 genomes]
rs487081	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs487884	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs496195	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs496198	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs511059	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs514491	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs517533	0.85[EUR][1000 genomes]
rs539708	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs541503	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs592762	0.85[EUR][1000 genomes]
rs594400	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs595283	0.82[EUR][1000 genomes]
rs597308	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs598685	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs606312	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs611365	0.85[EUR][1000 genomes]
rs612430	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs627707	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs629735	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs639216	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs639761	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs640195	0.94[EUR][1000 genomes]
rs658442	0.85[EUR][1000 genomes]
rs660073	0.85[EUR][1000 genomes]
rs662243	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs677277	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs839600	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs839605	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs839608	0.92[EUR][1000 genomes]
rs866321	0.94[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	nsv932014	chr1:119476480-120471049	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	86 gene(s)	inside rSNPs	diseases
2	nsv1000391	chr1:119837978-120287056	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv535077	chr1:119837978-120287056	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	nsv1000939	chr1:119983342-120471049	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	esv2757749	chr1:120016696-120214577	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
6	esv2758964	chr1:120016696-120214577	Enhancers ZNF genes & repeats Active TSS Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:120191600-120202200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr1:120193600-120202400	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr1:120194800-120202000	Weak transcription	Fetal Intestine Small	intestine
4	chr1:120197000-120202200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr1:120197800-120202200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr1:120198000-120202200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr1:120198200-120202000	Weak transcription	Fetal Stomach	stomach
8	chr1:120198200-120202200	Weak transcription	Liver	Liver
9	chr1:120198200-120202200	Weak transcription	Ovary	ovary
10	chr1:120198200-120202400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr1:120199000-120202200	Weak transcription	Fetal Heart	heart
12	chr1:120199000-120202200	Weak transcription	Placenta	Placenta
13	chr1:120199000-120202200	Weak transcription	Lung	lung
14	chr1:120199200-120201000	Weak transcription	Fetal Lung	lung
15	chr1:120199400-120204600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr1:120199600-120202200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr1:120199600-120202200	Weak transcription	GM12878-XiMat	blood
18	chr1:120200000-120201800	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr1:120200000-120202200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr1:120200000-120202200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr1:120200200-120202000	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr1:120200200-120202200	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr1:120200200-120202200	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr1:120200200-120202200	Weak transcription	Fetal Intestine Large	intestine
25	chr1:120200400-120202200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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