Variant report

Variant	rs73745480
Chromosome Location	chr6:29761237-29761238
allele	A/G
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	POLR2A	chr6:29760425-29761859	GM19193	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:29760873..29763751-chr6:29786445..29789008,2	MCF-7	breast:

Variant related genes	Relation type
HCG4	TF binding region

Extended variants
information (count: 192 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:171)

rs_ID	r²[population]
rs11751282	0.81[EUR][1000 genomes]
rs11751381	0.81[EUR][1000 genomes]
rs11751397	0.81[EUR][1000 genomes]
rs11751848	0.81[EUR][1000 genomes]
rs11751915	0.81[EUR][1000 genomes]
rs11752530	0.81[EUR][1000 genomes]
rs11753758	0.81[EUR][1000 genomes]
rs11753812	0.81[EUR][1000 genomes]
rs11753867	0.81[EUR][1000 genomes]
rs11753872	0.81[EUR][1000 genomes]
rs11754577	0.81[EUR][1000 genomes]
rs11755659	0.81[EUR][1000 genomes]
rs11757126	0.81[EUR][1000 genomes]
rs11757182	0.81[EUR][1000 genomes]
rs11757929	0.81[EUR][1000 genomes]
rs11757937	0.81[EUR][1000 genomes]
rs11757990	0.81[EUR][1000 genomes]
rs11758056	0.81[EUR][1000 genomes]
rs11758087	0.81[EUR][1000 genomes]
rs11759271	0.81[EUR][1000 genomes]
rs12110334	0.81[EUR][1000 genomes]
rs12110682	0.81[EUR][1000 genomes]
rs12111521	0.81[EUR][1000 genomes]
rs17178224	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17178602	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17178658	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17178665	0.97[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17178735	0.81[EUR][1000 genomes]
rs17178749	0.81[EUR][1000 genomes]
rs17178826	0.81[EUR][1000 genomes]
rs17178938	0.85[EUR][1000 genomes]
rs17178989	0.85[EUR][1000 genomes]
rs17184633	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17185244	0.81[EUR][1000 genomes]
rs17185258	1.00[EUR][1000 genomes]
rs17875375	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17875384	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17875387	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2272871	0.81[EUR][1000 genomes]
rs2474100	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2535231	0.82[AMR][1000 genomes]
rs2535234	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2535241	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2535251	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2535252	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2535255	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2535256	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2535257	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2535259	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2747418	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2747419	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2747437	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2747439	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2747441	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2747444	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2747446	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2747447	0.91[AMR][1000 genomes]
rs2747450	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2747452	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2747458	0.82[AMR][1000 genomes]
rs2747459	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2747461	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2747462	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2747464	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2747465	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2747466	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2857768	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2857780	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2857783	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2857784	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs28578751	0.81[EUR][1000 genomes]
rs28802633	0.81[EUR][1000 genomes]
rs28840978	0.81[EUR][1000 genomes]
rs2894117	0.81[EUR][1000 genomes]
rs2907893	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2907894	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2907896	0.91[AMR][1000 genomes]
rs2982835	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2982838	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2982840	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3094737	0.81[EUR][1000 genomes]
rs3117288	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3117300	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3117302	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3117304	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3117305	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs3117306	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3117307	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3117308	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3117309	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3117310	0.86[EUR][1000 genomes]
rs3117314	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3117316	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3129040	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3129050	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3129051	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3129186	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs34416032	0.81[EUR][1000 genomes]
rs34735344	0.81[EUR][1000 genomes]
rs34792092	0.81[EUR][1000 genomes]
rs35197595	0.81[EUR][1000 genomes]
rs35728173	0.81[EUR][1000 genomes]
rs35794939	0.81[EUR][1000 genomes]
rs36073133	0.81[EUR][1000 genomes]
rs36106954	0.81[EUR][1000 genomes]
rs3734820	0.81[EUR][1000 genomes]
rs385743	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs387603	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3891162	0.81[EUR][1000 genomes]
rs3892549	0.81[EUR][1000 genomes]
rs3906248	0.81[EUR][1000 genomes]
rs398931	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3998745	0.81[EUR][1000 genomes]
rs406424	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4098859	0.81[EUR][1000 genomes]
rs416560	0.91[AMR][1000 genomes]
rs422369	0.91[AMR][1000 genomes]
rs423281	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs423369	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4409220	0.81[EUR][1000 genomes]
rs56035102	0.81[EUR][1000 genomes]
rs56091723	0.81[EUR][1000 genomes]
rs56170912	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56182102	0.81[EUR][1000 genomes]
rs56211519	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56241766	0.81[EUR][1000 genomes]
rs56315562	0.81[EUR][1000 genomes]
rs58121457	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58147175	0.81[EUR][1000 genomes]
rs58449426	0.81[EUR][1000 genomes]
rs59144130	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59408697	0.81[EUR][1000 genomes]
rs59416725	0.81[EUR][1000 genomes]
rs59978815	0.81[EUR][1000 genomes]
rs60299305	0.81[EUR][1000 genomes]
rs61315420	0.81[EUR][1000 genomes]
rs61524015	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6932033	0.81[EUR][1000 genomes]
rs6932384	0.81[EUR][1000 genomes]
rs72492263	0.81[EUR][1000 genomes]
rs72507835	0.81[EUR][1000 genomes]
rs72507839	0.81[EUR][1000 genomes]
rs73745404	0.81[EUR][1000 genomes]
rs73745405	0.81[EUR][1000 genomes]
rs73745406	0.81[EUR][1000 genomes]
rs73745429	0.81[EUR][1000 genomes]
rs73745430	0.81[EUR][1000 genomes]
rs73745431	0.81[EUR][1000 genomes]
rs73745455	0.81[EUR][1000 genomes]
rs73745456	0.81[EUR][1000 genomes]
rs73745473	0.81[EUR][1000 genomes]
rs73745481	0.81[EUR][1000 genomes]
rs73745483	0.81[EUR][1000 genomes]
rs73745488	0.81[EUR][1000 genomes]
rs73745489	0.81[EUR][1000 genomes]
rs73745491	0.81[EUR][1000 genomes]
rs73745492	0.81[EUR][1000 genomes]
rs73745494	0.81[EUR][1000 genomes]
rs73747518	0.81[EUR][1000 genomes]
rs73747522	0.81[EUR][1000 genomes]
rs73747524	0.81[EUR][1000 genomes]
rs73747525	0.81[EUR][1000 genomes]
rs73747534	0.81[EUR][1000 genomes]
rs73747573	0.81[EUR][1000 genomes]
rs73747576	0.81[EUR][1000 genomes]
rs73747624	0.80[AFR][1000 genomes]
rs7758742	0.81[EUR][1000 genomes]
rs7763677	0.85[EUR][1000 genomes]
rs7775919	0.81[EUR][1000 genomes]
rs9468579	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9500984	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv20940	chr6:29653954-29923410	Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv428475	chr6:29659525-29763392	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv428139	chr6:29659525-29892317	Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
4	nsv427749	chr6:29659525-29975144	Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
5	nsv508397	chr6:29663132-29761448	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
6	esv1794141	chr6:29670915-29765814	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
7	nsv10809	chr6:29692573-29794119	Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
8	nsv883532	chr6:29703262-29814963	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
9	esv3441842	chr6:29715749-29942950	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
10	esv11180	chr6:29729381-29800066	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
11	esv3332677	chr6:29733187-29961463	Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
12	esv3423001	chr6:29733216-29878601	Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
13	esv3475027	chr6:29733297-29922699	Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
14	esv3475028	chr6:29733297-29922699	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
15	esv3420260	chr6:29734457-29835593	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
16	esv3330285	chr6:29736281-29881328	Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
17	nsv883537	chr6:29746023-29767611	Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
18	nsv883539	chr6:29748206-29780529	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
19	esv3396224	chr6:29754243-29888093	Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
20	nsv965702	chr6:29758408-29798943	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
21	esv3430372	chr6:29759523-29974277	Genic enhancers Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:29760400-29764400	Weak transcription	Hela-S3	cervix
2	chr6:29760800-29761400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr6:29761000-29761400	Enhancers	Primary T helper naive cells from peripheral blood	blood
4	chr6:29761000-29761400	Enhancers	Primary T helper cells fromperipheralblood	blood
5	chr6:29761000-29761400	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
6	chr6:29761000-29761400	Enhancers	Left Ventricle	heart
7	chr6:29761000-29761600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
8	chr6:29761000-29761600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
9	chr6:29761000-29761800	Enhancers	Pancreas	Pancrea
10	chr6:29761000-29762000	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr6:29761000-29763000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr6:29761000-29765200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr6:29761200-29761400	Enhancers	Primary T helper cells PMA-I stimulated	--
14	chr6:29761200-29761400	Enhancers	Primary T killer memory cells from peripheral blood	blood
15	chr6:29761200-29761400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr6:29761200-29761400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr6:29761200-29762200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr6:29761200-29763800	Weak transcription	HMEC	breast
19	chr6:29761200-29763800	Weak transcription	NHEK	skin
20	chr6:29761200-29764400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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