Variant report

Variant	rs159973
Chromosome Location	chr5:152732841-152732842
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:152723819..152726556-chr5:152729942..152732962,3	K562	blood:

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs12187528	0.81[AFR][1000 genomes]
rs1381540	0.88[EUR][1000 genomes]
rs1462113	0.89[AFR][1000 genomes];0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1462114	0.89[AFR][1000 genomes];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs149095	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs150618	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs159759	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs159972	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs159978	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs160066	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs160163	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs160172	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2546328	0.82[EUR][1000 genomes]
rs2560231	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2926287	0.88[EUR][1000 genomes]
rs2926288	0.88[EUR][1000 genomes]
rs2927172	0.88[EUR][1000 genomes]
rs2964817	0.88[EUR][1000 genomes]
rs2973148	0.89[EUR][1000 genomes]
rs2973149	0.88[EUR][1000 genomes]
rs300326	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs300328	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs300331	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs300332	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs300334	1.00[ASN][1000 genomes]
rs300335	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs302738	0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs304854	0.81[ASN][1000 genomes]
rs304862	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs304863	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs304886	0.81[ASN][1000 genomes]
rs304887	0.81[ASN][1000 genomes]
rs308270	0.89[AFR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs982494	0.88[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	nsv1023676	chr5:151979253-152925064	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv537927	chr5:151979253-152925064	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv1019051	chr5:152550863-153057896	Enhancers Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv868912	chr5:152582002-153095306	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv883052	chr5:152696107-152749009	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv883053	chr5:152696107-152806220	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:152730200-152734200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr5:152730800-152733200	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr5:152732000-152733000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr5:152732000-152733400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr5:152732200-152733000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr5:152732200-152733000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr5:152732200-152733000	Enhancers	Fetal Heart	heart
8	chr5:152732200-152733200	Flanking Active TSS	GM12878-XiMat	blood
9	chr5:152732400-152733000	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr5:152732400-152733000	Enhancers	Primary hematopoietic stem cells	blood
11	chr5:152732400-152733000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
12	chr5:152732400-152733000	Active TSS	Brain Anterior Caudate	brain
13	chr5:152732400-152733200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr5:152732600-152733000	Active TSS	Primary T killer naive cells fromperipheralblood	blood
15	chr5:152732600-152733200	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr5:152732800-152733000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr5:152732800-152733000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
18	chr5:152732800-152733000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr5:152732800-152733200	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr5:152732800-152733400	Enhancers	HMEC	breast
21	chr5:152732800-152734400	Enhancers	NHEK	skin
22	chr5:152732800-152735400	Weak transcription	Aorta	Aorta

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