Variant report

Variant	rs73475848
Chromosome Location	chr6:48532576-48532577
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]
rs4596470	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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]
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:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:48528400-48532600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr6:48531000-48535400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr6:48531200-48532600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr6:48531200-48532600	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr6:48531200-48533200	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr6:48531200-48533600	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr6:48531600-48532600	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr6:48531600-48532600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr6:48531800-48532600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr6:48531800-48532800	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr6:48532000-48532600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
12	chr6:48532000-48533000	Enhancers	H1 Cell Line	embryonic stem cell
13	chr6:48532200-48532600	Enhancers	Placenta	Placenta
14	chr6:48532200-48532800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr6:48532400-48532800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr6:48532400-48532800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr6:48532400-48534000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr6:48532400-48535000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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