Variant report

Variant	rs4968477
Chromosome Location	chr17:60180026-60180027
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:60003784..60005403-chr17:60178817..60181587,2	MCF-7	breast:
2	chr17:60178480..60180741-chr17:60182738..60185657,2	MCF-7	breast:
3	chr17:60175247..60178063-chr17:60178504..60180978,2	MCF-7	breast:
4	chr17:60171082..60173019-chr17:60180018..60181972,2	MCF-7	breast:
5	chr17:60141564..60144879-chr17:60179169..60182573,3	MCF-7	breast:
6	chr17:60177761..60180120-chr17:60185568..60187531,3	MCF-7	breast:
7	chr17:60173989..60176014-chr17:60177533..60180663,4	K562	blood:

Variant related genes	Relation type
ENSG00000108510	Chromatin interaction
ENSG00000108506	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10512493	0.84[JPT][hapmap]
rs11079461	0.95[EUR][1000 genomes]
rs11079464	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11649711	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11869921	0.84[JPT][hapmap]
rs11870331	0.85[EUR][1000 genomes]
rs12450995	0.93[CEU][hapmap];0.87[CHB][hapmap];0.95[JPT][hapmap]
rs4456566	0.91[EUR][1000 genomes]
rs4493126	0.95[EUR][1000 genomes]
rs4968410	0.93[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap]
rs4968469	0.92[CEU][hapmap];0.86[CHB][hapmap];0.94[JPT][hapmap];0.83[EUR][1000 genomes]
rs4968473	0.93[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes]
rs58046762	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6504077	0.92[CEU][hapmap];0.86[CHB][hapmap];0.94[JPT][hapmap]
rs6504079	0.92[CEU][hapmap];0.86[CHB][hapmap];0.94[JPT][hapmap]
rs67274807	0.95[EUR][1000 genomes]
rs7207930	0.92[CEU][hapmap];0.86[CHB][hapmap];0.94[JPT][hapmap]
rs72845411	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72845416	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72845417	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72845418	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8072101	0.92[CEU][hapmap];0.86[CHB][hapmap];0.94[JPT][hapmap]
rs8081599	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8081812	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9303455	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9889324	0.92[CEU][hapmap];0.86[CHB][hapmap];0.94[JPT][hapmap];0.81[EUR][1000 genomes]
rs9889676	0.91[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9902812	0.85[CEU][hapmap]
rs9908352	0.92[CEU][hapmap];0.86[CHB][hapmap];0.94[JPT][hapmap]
rs9912042	0.84[JPT][hapmap]
rs9913443	0.86[CHB][hapmap];0.94[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062816	chr17:60074670-60470465	Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
2	esv2753884	chr17:60077852-60190630	Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	esv2755037	chr17:60086508-60386211	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
4	esv3415630	chr17:60124819-60401635	Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
5	nsv833507	chr17:60174659-60369541	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv469887	chr17:60176679-60381899	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
7	nsv482579	chr17:60176679-60381899	Weak transcription Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
8	nsv527199	chr17:60177504-60181783	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:60174000-60182200	Weak transcription	Aorta	Aorta
2	chr17:60176800-60182200	Weak transcription	K562	blood
3	chr17:60178200-60186800	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr17:60179400-60186600	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr17:60179600-60182400	Weak transcription	Fetal Intestine Large	intestine
6	chr17:60179600-60182400	Weak transcription	Fetal Intestine Small	intestine
7	chr17:60179600-60183400	Weak transcription	Duodenum Mucosa	Duodenum
8	chr17:60179800-60182600	Weak transcription	Liver	Liver
9	chr17:60180000-60180400	Weak transcription	HepG2	liver

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