Variant report

Variant	rs60595870
Chromosome Location	chr14:45356590-45356591
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:45355784..45358308-chr14:45369191..45370698,2	MCF-7	breast:
2	chr14:45355758..45358329-chr14:45365529..45367662,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000258633	Chromatin interaction
ENSG00000179476	Chromatin interaction

Extended variants
information (count: 144 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:136)

rs_ID	r²[population]
rs10083439	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10129173	0.84[EUR][1000 genomes]
rs10134071	0.80[EUR][1000 genomes]
rs10135890	0.80[EUR][1000 genomes]
rs10136855	0.84[EUR][1000 genomes]
rs10139998	0.84[EUR][1000 genomes]
rs10140013	0.82[EUR][1000 genomes]
rs10140049	0.84[EUR][1000 genomes]
rs10140108	0.85[EUR][1000 genomes]
rs10140222	0.80[EUR][1000 genomes]
rs10140318	0.80[EUR][1000 genomes]
rs10145092	0.80[EUR][1000 genomes]
rs10145267	0.82[EUR][1000 genomes]
rs10146395	0.80[EUR][1000 genomes]
rs10147499	0.80[EUR][1000 genomes]
rs10149484	0.84[EUR][1000 genomes]
rs10150646	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10152101	0.85[EUR][1000 genomes]
rs11157423	0.85[EUR][1000 genomes]
rs11157424	0.85[EUR][1000 genomes]
rs11845088	0.84[EUR][1000 genomes]
rs11845904	0.87[EUR][1000 genomes]
rs11845956	0.80[EUR][1000 genomes]
rs11846656	0.84[EUR][1000 genomes]
rs11847039	0.87[EUR][1000 genomes]
rs11848334	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11848799	0.85[EUR][1000 genomes]
rs11849208	0.80[EUR][1000 genomes]
rs11849583	0.84[EUR][1000 genomes]
rs11850363	0.84[EUR][1000 genomes]
rs11851218	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11851357	0.87[EUR][1000 genomes]
rs11851516	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11851764	0.91[AFR][1000 genomes]
rs11851962	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11852210	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12100842	0.80[EUR][1000 genomes]
rs1593279	0.87[EUR][1000 genomes]
rs17115639	0.87[EUR][1000 genomes]
rs17115646	0.87[EUR][1000 genomes]
rs17115648	0.87[EUR][1000 genomes]
rs17115652	0.87[EUR][1000 genomes]
rs17115677	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17115679	0.95[AFR][1000 genomes]
rs17115681	0.83[AFR][1000 genomes]
rs17115688	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17115703	0.85[EUR][1000 genomes]
rs17115718	0.84[EUR][1000 genomes]
rs17115787	0.80[EUR][1000 genomes]
rs2295157	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2295158	1.00[ASN][1000 genomes]
rs2295160	1.00[ASN][1000 genomes]
rs28432035	0.87[EUR][1000 genomes]
rs28448551	0.80[EUR][1000 genomes]
rs28517769	0.84[EUR][1000 genomes]
rs28558522	0.85[EUR][1000 genomes]
rs28572336	0.80[EUR][1000 genomes]
rs28594810	0.80[EUR][1000 genomes]
rs28622413	0.80[EUR][1000 genomes]
rs28681969	0.80[EUR][1000 genomes]
rs28695721	0.85[EUR][1000 genomes]
rs28703636	0.84[EUR][1000 genomes]
rs2899960	0.84[EUR][1000 genomes]
rs3736747	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3825629	0.84[EUR][1000 genomes]
rs56386358	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56706956	0.80[EUR][1000 genomes]
rs57129780	0.86[EUR][1000 genomes]
rs57147026	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs57614513	0.80[EUR][1000 genomes]
rs57694277	0.80[EUR][1000 genomes]
rs58013518	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58152153	0.91[AFR][1000 genomes]
rs58338525	0.87[EUR][1000 genomes]
rs58920861	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59698927	0.95[AFR][1000 genomes]
rs59992752	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60521816	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60891427	0.80[EUR][1000 genomes]
rs61707578	0.80[EUR][1000 genomes]
rs6572290	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs66488071	0.84[EUR][1000 genomes]
rs66535982	0.84[EUR][1000 genomes]
rs66662385	0.85[EUR][1000 genomes]
rs67643245	0.84[EUR][1000 genomes]
rs7140739	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7145831	0.84[EUR][1000 genomes]
rs7145870	0.85[EUR][1000 genomes]
rs7147811	0.80[EUR][1000 genomes]
rs7151557	0.85[EUR][1000 genomes]
rs7158846	0.85[EUR][1000 genomes]
rs72474137	0.98[ASN][1000 genomes]
rs73334104	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73334112	0.87[EUR][1000 genomes]
rs73334114	0.87[EUR][1000 genomes]
rs73334131	0.87[EUR][1000 genomes]
rs73334135	0.85[EUR][1000 genomes]
rs73334148	0.85[EUR][1000 genomes]
rs73334154	0.85[EUR][1000 genomes]
rs73334157	0.85[EUR][1000 genomes]
rs73334162	0.85[EUR][1000 genomes]
rs73334165	0.85[EUR][1000 genomes]
rs73334172	0.85[EUR][1000 genomes]
rs73334176	0.85[EUR][1000 genomes]
rs73334913	0.80[EUR][1000 genomes]
rs73346336	0.82[EUR][1000 genomes]
rs73346344	0.85[EUR][1000 genomes]
rs73346351	0.84[EUR][1000 genomes]
rs73346360	0.84[EUR][1000 genomes]
rs73347154	0.95[AFR][1000 genomes]
rs73347158	0.81[AFR][1000 genomes]
rs73348069	0.80[EUR][1000 genomes]
rs73348076	0.80[EUR][1000 genomes]
rs73348079	0.80[EUR][1000 genomes]
rs73348088	0.80[EUR][1000 genomes]
rs73348095	0.80[EUR][1000 genomes]
rs73348920	0.89[AFR][1000 genomes]
rs73348927	0.89[AFR][1000 genomes]
rs73348928	0.89[AFR][1000 genomes]
rs73348939	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73348947	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73348950	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73348953	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73348959	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73348966	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73348975	0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73348977	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73348981	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73348987	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73350201	0.84[EUR][1000 genomes]
rs73352233	0.80[EUR][1000 genomes]
rs7493246	0.84[EUR][1000 genomes]
rs7493823	0.80[EUR][1000 genomes]
rs8015453	0.80[EUR][1000 genomes]
rs8022008	0.84[EUR][1000 genomes]
rs8022608	0.80[EUR][1000 genomes]

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	nsv869289	chr14:44752382-45447415	Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	nsv901832	chr14:44847444-45415597	Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
3	nsv995092	chr14:44973489-45393462	Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
4	nsv1047886	chr14:45189653-45543182	Strong transcription Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
5	nsv542079	chr14:45189653-45543182	Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
6	nsv901841	chr14:45198196-45719643	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
7	nsv1053437	chr14:45232269-45424222	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
8	nsv1039820	chr14:45298012-45361409	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs60595870	RP11-398E10.1	cis	Nerve Tibial	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:45355200-45356600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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