Variant report

Variant	rs10150646
Chromosome Location	chr14:45365089-45365090
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	STAT3	chr14:45365050-45365250	MCF10A-Er-Src	breast:	n/a	n/a
2	STAT3	chr14:45365039-45365235	MCF10A-Er-Src	breast:	n/a	n/a
3	JUND	chr14:45364915-45365383	SK-N-SH	brain:	n/a	chr14:45365294-45365306
4	CEBPB	chr14:45364951-45365320	IMR90	lung:	n/a	n/a
5	YY1	chr14:45365039-45365276	SK-N-SH	brain:	n/a	chr14:45365135-45365151
6	POLR2A	chr14:45365026-45365203	HepG2	liver:	n/a	n/a
7	FOS	chr14:45365077-45365218	MCF10A-Er-Src	breast:	n/a	n/a
8	FOS	chr14:45364978-45365228	MCF10A-Er-Src	breast:	n/a	n/a
9	FOSL2	chr14:45364958-45365411	SK-N-SH	brain:	n/a	chr14:45365294-45365306
10	STAT3	chr14:45365038-45365226	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:45362182..45365110-chr19:13049447..13051333,2	MCF-7	breast:
2	chr14:45364937..45368444-chr14:45721075..45725396,9	MCF-7	breast:

Variant related genes	Relation type
C14orf28	TF binding region
ENSG00000179218	Chromatin interaction
ENSG00000129534	Chromatin interaction

Extended variants
information (count: 159 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:151)

rs_ID	r²[population]
rs10083439	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10129173	0.85[EUR][1000 genomes]
rs10131615	0.82[CEU][hapmap];0.95[GIH][hapmap];0.83[MEX][hapmap];0.94[TSI][hapmap]
rs10132389	0.82[CEU][hapmap]
rs10132547	0.95[GIH][hapmap];0.94[TSI][hapmap]
rs10132949	0.82[CEU][hapmap];0.91[GIH][hapmap];0.84[MEX][hapmap];0.82[TSI][hapmap]
rs10134071	0.82[CEU][hapmap];0.95[GIH][hapmap];0.84[MEX][hapmap];0.94[TSI][hapmap];0.82[EUR][1000 genomes]
rs10134598	0.82[GIH][hapmap];0.84[MEX][hapmap];0.82[TSI][hapmap]
rs10135085	0.82[GIH][hapmap];0.84[MEX][hapmap]
rs10135890	0.91[GIH][hapmap];0.84[MEX][hapmap];0.94[TSI][hapmap];0.82[EUR][1000 genomes]
rs10136008	0.80[EUR][1000 genomes]
rs10136855	0.85[EUR][1000 genomes]
rs10139998	0.85[EUR][1000 genomes]
rs10140013	0.83[EUR][1000 genomes]
rs10140049	0.82[CEU][hapmap];0.95[GIH][hapmap];0.84[MEX][hapmap];0.94[TSI][hapmap];0.85[EUR][1000 genomes]
rs10140108	0.87[EUR][1000 genomes]
rs10140222	0.95[GIH][hapmap];0.82[TSI][hapmap];0.82[EUR][1000 genomes]
rs10140318	0.82[CEU][hapmap];0.82[EUR][1000 genomes]
rs10145092	0.82[CEU][hapmap];0.90[GIH][hapmap];0.94[TSI][hapmap];0.82[EUR][1000 genomes]
rs10145267	0.82[CEU][hapmap];0.82[CHB][hapmap];0.83[EUR][1000 genomes]
rs10146395	0.82[EUR][1000 genomes]
rs10147499	0.82[CEU][hapmap];0.82[EUR][1000 genomes]
rs10149484	0.82[CEU][hapmap];0.85[EUR][1000 genomes]
rs10152101	0.82[CEU][hapmap];0.95[GIH][hapmap];0.84[MEX][hapmap];0.87[TSI][hapmap];0.87[EUR][1000 genomes]
rs10483549	0.85[CHB][hapmap];0.88[JPT][hapmap]
rs1053667	0.82[CEU][hapmap];0.95[GIH][hapmap];0.94[TSI][hapmap];0.80[EUR][1000 genomes]
rs11157423	0.82[CEU][hapmap];0.87[EUR][1000 genomes]
rs11157424	0.82[CEU][hapmap];0.95[GIH][hapmap];0.84[MEX][hapmap];0.94[TSI][hapmap];0.87[EUR][1000 genomes]
rs11844832	0.82[CEU][hapmap];0.95[GIH][hapmap];0.94[TSI][hapmap]
rs11845088	0.85[EUR][1000 genomes]
rs11845904	1.00[CEU][hapmap];0.83[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.94[TSI][hapmap];0.89[EUR][1000 genomes]
rs11845956	0.82[CEU][hapmap];0.95[GIH][hapmap];0.84[MEX][hapmap];0.94[TSI][hapmap];0.82[EUR][1000 genomes]
rs11846656	0.82[CEU][hapmap];0.95[GIH][hapmap];0.94[TSI][hapmap];0.85[EUR][1000 genomes]
rs11847039	0.89[EUR][1000 genomes]
rs11848334	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11848799	0.82[CEU][hapmap];0.95[GIH][hapmap];0.94[TSI][hapmap];0.87[EUR][1000 genomes]
rs11849208	0.82[CEU][hapmap];0.82[EUR][1000 genomes]
rs11849583	0.85[EUR][1000 genomes]
rs11850363	0.82[CEU][hapmap];0.85[EUR][1000 genomes]
rs11851218	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11851357	0.89[EUR][1000 genomes]
rs11851516	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11851962	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11852210	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.94[TSI][hapmap];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12100842	0.95[GIH][hapmap];0.87[TSI][hapmap];0.82[EUR][1000 genomes]
rs1593279	0.89[EUR][1000 genomes]
rs17115639	0.89[EUR][1000 genomes]
rs17115646	0.89[EUR][1000 genomes]
rs17115648	0.89[EUR][1000 genomes]
rs17115651	0.87[AFR][1000 genomes]
rs17115652	0.89[EUR][1000 genomes]
rs17115667	0.85[CHB][hapmap];0.88[JPT][hapmap]
rs17115674	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs17115677	1.00[CHB][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17115688	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17115703	0.82[CEU][hapmap];0.87[EUR][1000 genomes]
rs17115718	0.82[CEU][hapmap];0.85[EUR][1000 genomes]
rs17115787	0.82[CEU][hapmap];0.90[GIH][hapmap];0.82[MEX][hapmap];0.94[TSI][hapmap];0.82[EUR][1000 genomes]
rs17115809	0.82[GIH][hapmap];0.84[MEX][hapmap]
rs17115811	0.82[GIH][hapmap]
rs172967	0.87[AFR][1000 genomes]
rs2295157	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2295158	1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs2295160	0.98[ASN][1000 genomes]
rs229755	0.87[AFR][1000 genomes]
rs28432035	0.89[EUR][1000 genomes]
rs28448551	0.82[CEU][hapmap];0.95[GIH][hapmap];0.84[MEX][hapmap];0.94[TSI][hapmap];0.82[EUR][1000 genomes]
rs28517769	0.85[EUR][1000 genomes]
rs28558522	0.87[EUR][1000 genomes]
rs28572336	0.82[EUR][1000 genomes]
rs28594810	0.82[EUR][1000 genomes]
rs28622413	0.82[EUR][1000 genomes]
rs28681969	0.82[EUR][1000 genomes]
rs28695721	0.87[EUR][1000 genomes]
rs28703636	0.85[EUR][1000 genomes]
rs2899960	0.85[EUR][1000 genomes]
rs3736747	1.00[CEU][hapmap];0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3825629	0.82[CEU][hapmap];0.82[CHB][hapmap];0.85[EUR][1000 genomes]
rs56386358	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56706956	0.82[EUR][1000 genomes]
rs57129780	0.87[EUR][1000 genomes]
rs57147026	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57614513	0.82[EUR][1000 genomes]
rs57694277	0.82[EUR][1000 genomes]
rs58013518	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58338525	0.89[EUR][1000 genomes]
rs58920861	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59992752	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60521816	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60595870	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60891427	0.82[EUR][1000 genomes]
rs61707578	0.82[EUR][1000 genomes]
rs6572281	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6572290	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.95[GIH][hapmap];0.94[TSI][hapmap];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs66488071	0.85[EUR][1000 genomes]
rs66535982	0.85[EUR][1000 genomes]
rs66662385	0.87[EUR][1000 genomes]
rs67643245	0.85[EUR][1000 genomes]
rs7140739	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7145831	1.00[CEU][hapmap];0.95[YRI][hapmap];0.85[EUR][1000 genomes]
rs7145870	0.82[CEU][hapmap];0.87[EUR][1000 genomes]
rs7146566	0.82[CEU][hapmap]
rs7147811	0.82[CEU][hapmap];0.82[EUR][1000 genomes]
rs7151557	0.87[EUR][1000 genomes]
rs7158846	0.82[CEU][hapmap];0.95[GIH][hapmap];0.84[MEX][hapmap];0.94[TSI][hapmap];0.87[EUR][1000 genomes]
rs7161626	1.00[CHB][hapmap];0.88[JPT][hapmap]
rs72474137	0.96[ASN][1000 genomes]
rs73334104	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73334112	0.89[EUR][1000 genomes]
rs73334114	0.89[EUR][1000 genomes]
rs73334131	0.89[EUR][1000 genomes]
rs73334135	0.87[EUR][1000 genomes]
rs73334148	0.87[EUR][1000 genomes]
rs73334154	0.87[EUR][1000 genomes]
rs73334157	0.87[EUR][1000 genomes]
rs73334162	0.87[EUR][1000 genomes]
rs73334165	0.87[EUR][1000 genomes]
rs73334172	0.87[EUR][1000 genomes]
rs73334176	0.87[EUR][1000 genomes]
rs73334913	0.82[EUR][1000 genomes]
rs73346336	0.83[EUR][1000 genomes]
rs73346344	0.87[EUR][1000 genomes]
rs73346351	0.85[EUR][1000 genomes]
rs73346360	0.85[EUR][1000 genomes]
rs73348069	0.82[EUR][1000 genomes]
rs73348076	0.82[EUR][1000 genomes]
rs73348079	0.82[EUR][1000 genomes]
rs73348088	0.82[EUR][1000 genomes]
rs73348095	0.82[EUR][1000 genomes]
rs73348939	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73348947	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73348950	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73348953	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73348959	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73348966	0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73348975	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73348977	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73348981	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73348987	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73350201	0.85[EUR][1000 genomes]
rs73352233	0.82[EUR][1000 genomes]
rs7492763	0.85[CHB][hapmap];0.88[JPT][hapmap]
rs7493246	0.85[EUR][1000 genomes]
rs7493823	0.82[EUR][1000 genomes]
rs8006685	0.82[CEU][hapmap];0.91[GIH][hapmap];0.84[MEX][hapmap];0.94[TSI][hapmap]
rs8011828	0.82[ASW][hapmap];0.85[CHB][hapmap];0.88[JPT][hapmap];0.84[MEX][hapmap]
rs8015453	0.82[EUR][1000 genomes]
rs8016855	0.90[AFR][1000 genomes]
rs8022008	0.82[CEU][hapmap];0.95[GIH][hapmap];0.84[MEX][hapmap];0.94[TSI][hapmap];0.85[EUR][1000 genomes]
rs8022608	0.82[EUR][1000 genomes]
rs9323106	0.82[CEU][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	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	esv1795667	chr14:45361680-45721052	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10150646	RP11-398E10.1	cis	lung	GTEx
rs10150646	RP11-398E10.1	cis	Nerve Tibial	GTEx

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:45359400-45365800	Weak transcription	Fetal Kidney	kidney
2	chr14:45359800-45365600	Weak transcription	Fetal Heart	heart
3	chr14:45360000-45365600	Weak transcription	Duodenum Mucosa	Duodenum
4	chr14:45360400-45365800	Weak transcription	Fetal Lung	lung
5	chr14:45361400-45365600	Weak transcription	Primary hematopoietic stem cells	blood
6	chr14:45364600-45365200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr14:45364600-45365400	Enhancers	NHDF-Ad	bronchial
8	chr14:45364600-45366200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr14:45364800-45365400	Enhancers	NH-A	brain
10	chr14:45364800-45365400	Enhancers	Osteobl	bone
11	chr14:45365000-45365200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr14:45365000-45365200	Enhancers	HepG2	liver
13	chr14:45365000-45365800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr14:45365000-45365800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr14:45365000-45365800	Enhancers	HMEC	breast
16	chr14:45365000-45368800	Active TSS	Stomach Smooth Muscle	stomach

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