Variant report

Variant	rs73745450
Chromosome Location	chr6:29757185-29757186
allele	C/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	CEBPB	chr6:29757089-29757337	HepG2	liver:	n/a	chr6:29757235-29757246

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:29755459..29758755-chr6:29758827..29760410,3	MCF-7	breast:
2	chr6:29755654..29758226-chr6:29780556..29783054,2	MCF-7	breast:

Variant related genes	Relation type
HLA-V	TF binding region
ENSG00000181126	Chromatin interaction

Extended variants
information (count: 122 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:101)

rs_ID	r²[population]
rs11751201	0.90[EUR][1000 genomes]
rs11751282	0.84[ASN][1000 genomes]
rs11751333	0.80[ASN][1000 genomes]
rs11751381	0.87[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs11751397	0.84[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs11751791	0.90[EUR][1000 genomes]
rs11751820	0.86[EUR][1000 genomes]
rs11751915	0.87[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs11752530	0.84[ASN][1000 genomes]
rs11753758	0.88[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs11753812	0.84[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs11753867	0.93[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs11753872	0.93[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs11754253	0.90[EUR][1000 genomes]
rs11754577	0.82[ASN][1000 genomes]
rs11755659	0.91[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs11756053	0.82[ASN][1000 genomes]
rs11757480	0.82[ASN][1000 genomes]
rs11757929	0.84[ASN][1000 genomes]
rs11757937	0.84[ASN][1000 genomes]
rs11757990	0.84[ASN][1000 genomes]
rs11758019	0.82[ASN][1000 genomes]
rs11758056	0.84[ASN][1000 genomes]
rs11758087	0.84[ASN][1000 genomes]
rs11758136	0.81[ASN][1000 genomes]
rs11759271	0.82[ASN][1000 genomes]
rs11759378	0.82[AFR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12110334	0.92[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs12110682	0.92[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs12111521	0.90[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs17178735	0.80[ASN][1000 genomes]
rs17178749	0.80[ASN][1000 genomes]
rs17185076	0.80[ASN][1000 genomes]
rs17185090	0.90[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs2294415	1.00[EUR][1000 genomes]
rs28578751	0.85[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs28802633	0.90[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs28840978	0.90[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs2907896	0.81[EUR][1000 genomes]
rs34416032	0.96[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs34735344	0.88[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs34792092	0.88[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs35197595	0.88[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs35368450	0.95[ASN][1000 genomes]
rs35728173	0.93[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs35794939	0.88[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs36073133	0.88[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs36106954	0.88[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs3734820	0.95[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs3891160	1.00[EUR][1000 genomes]
rs3891161	1.00[EUR][1000 genomes]
rs3892549	0.93[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs56091723	0.90[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs56182102	0.95[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs56183732	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56241766	0.95[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs56315562	0.93[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs58147175	0.96[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs58477674	0.86[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs59396305	0.93[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs59408697	0.95[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs6915497	0.90[EUR][1000 genomes]
rs6932033	0.93[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs6932384	0.93[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs72492257	0.90[EUR][1000 genomes]
rs72492262	0.90[EUR][1000 genomes]
rs72492266	0.90[EUR][1000 genomes]
rs72507835	0.93[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs72507836	0.98[ASN][1000 genomes]
rs72507838	0.84[ASN][1000 genomes]
rs72507839	0.84[ASN][1000 genomes]
rs72661135	0.98[ASN][1000 genomes]
rs73745404	0.88[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs73745405	0.87[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs73745406	0.88[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs73745429	0.92[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs73745430	0.92[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs73745431	0.92[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs73745455	0.96[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs73745456	0.96[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs73745473	0.96[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs73745481	0.96[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs73745483	0.96[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs73745488	0.96[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs73745489	0.96[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs73745491	0.96[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs73745492	0.96[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs73745494	0.96[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs73747518	0.84[ASN][1000 genomes]
rs73747522	0.84[ASN][1000 genomes]
rs73747524	0.84[ASN][1000 genomes]
rs73747525	0.84[ASN][1000 genomes]
rs73747534	0.80[ASN][1000 genomes]
rs73747575	0.90[EUR][1000 genomes]
rs7739070	0.91[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs7742749	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7758067	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7758742	0.93[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs7759746	0.91[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs7775919	0.96[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs9500984	0.92[AFR][1000 genomes];0.98[ASN][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	nsv883536	chr6:29746023-29760819	Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
18	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
19	nsv883538	chr6:29748206-29760819	Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
20	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
21	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

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:29754000-29757600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr6:29756000-29758600	Weak transcription	Pancreas	Pancrea
3	chr6:29756800-29757400	Weak transcription	NHEK	skin
4	chr6:29756800-29758400	Enhancers	HMEC	breast
5	chr6:29757000-29757200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr6:29757000-29758000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr6:29757000-29758600	Weak transcription	Placenta Amnion	Placenta Amnion

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