Variant report

Variant	rs4596470
Chromosome Location	chr6:48535092-48535093
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10948420	0.84[AFR][1000 genomes]
rs11759229	0.87[AFR][1000 genomes]
rs1348414	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1427158	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1427159	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1427160	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1427161	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1443637	0.85[AFR][1000 genomes]
rs16877558	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16877594	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16877610	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4122442	0.85[AFR][1000 genomes]
rs4640885	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56873042	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61092639	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61319711	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6908013	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6915629	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6923183	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6924204	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6926050	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6931059	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73475839	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73475840	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73475846	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73475848	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73475855	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73477824	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73479864	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73480865	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73480867	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73480868	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73480873	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73480875	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73480882	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73480884	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73480887	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73480889	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73480891	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73480892	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73480901	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73482504	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73482510	1.00[EUR][1000 genomes]
rs73482512	1.00[EUR][1000 genomes]
rs73482514	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73482517	0.86[EUR][1000 genomes]
rs9349448	0.85[AFR][1000 genomes]
rs9357578	0.85[AFR][1000 genomes]
rs9367313	0.88[AFR][1000 genomes]
rs9367315	0.85[AFR][1000 genomes]
rs9367316	0.85[AFR][1000 genomes]
rs9367317	0.85[AFR][1000 genomes]
rs9381664	0.85[AFR][1000 genomes]
rs9381665	0.85[AFR][1000 genomes]
rs9395368	0.88[AFR][1000 genomes]
rs9395370	0.83[AFR][1000 genomes]
rs9395371	0.85[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv603035	chr6:47902243-48700995	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1033151	chr6:48067287-48797029	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv538217	chr6:48067287-48797029	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv885877	chr6:48117685-48626930	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv917050	chr6:48168742-48578496	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv830657	chr6:48387714-48566656	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv462942	chr6:48480264-48598199	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv885878	chr6:48481466-48623408	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
9	nsv830658	chr6:48497904-48632523	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:48531000-48535400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr6:48532600-48535400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr6:48532800-48536600	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr6:48533000-48536600	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr6:48533600-48535400	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr6:48533600-48535600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr6:48533800-48535600	Enhancers	HMEC	breast
8	chr6:48533800-48535800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr6:48533800-48536600	Enhancers	NHEK	skin
10	chr6:48534400-48535600	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr6:48534600-48535200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr6:48534600-48535200	Enhancers	NH-A	brain
13	chr6:48534600-48535400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr6:48534600-48535400	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr6:48534600-48535600	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr6:48534600-48535800	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr6:48534800-48535200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
18	chr6:48534800-48535400	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr6:48535000-48536600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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