Variant report

Variant	rs1264516
Chromosome Location	chr6:30411903-30411904
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1150770	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1264513	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1268445	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2105961	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2187974	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2187975	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2516674	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2516677	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2524178	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2524179	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2524182	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2524186	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2524193	0.80[EUR][1000 genomes]
rs2524201	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2844730	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3094716	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs915666	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs928821	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs978009	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025667	chr6:30292845-30638066	Flanking Active TSS Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	825 gene(s)	inside rSNPs	diseases
2	esv3519970	chr6:30382942-31378788	Genic enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1030 gene(s)	inside rSNPs	diseases
3	esv3519971	chr6:30382942-31378788	Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1030 gene(s)	inside rSNPs	diseases
4	nsv601478	chr6:30383768-30438226	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:30411400-30412400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
2	chr6:30411600-30412200	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
3	chr6:30411600-30412400	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
4	chr6:30411600-30412400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
5	chr6:30411800-30412000	Active TSS	H9 Cell Line	embryonic stem cell
6	chr6:30411800-30412000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr6:30411800-30412000	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr6:30411800-30412000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr6:30411800-30412000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr6:30411800-30412000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
11	chr6:30411800-30412000	Enhancers	HMEC	breast
12	chr6:30411800-30412200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
13	chr6:30411800-30412200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
14	chr6:30411800-30412200	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr6:30411800-30412200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr6:30411800-30412200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
17	chr6:30411800-30412200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr6:30411800-30412400	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
19	chr6:30411800-30412400	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr6:30411800-30412400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
21	chr6:30411800-30412400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
22	chr6:30411800-30412400	Bivalent Enhancer	Colon Smooth Muscle	Colon
23	chr6:30411800-30412600	Bivalent Enhancer	NHEK	skin

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