Variant report

Variant	rs2394172
Chromosome Location	chr6:29756800-29756801
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	SETDB1	chr6:29756361-29756893	U2OS	brain:	n/a	n/a
2	MAFK	chr6:29756791-29756898	HepG2	liver:	n/a	chr6:29756822-29756837
3	MAFF	chr6:29756729-29756857	K562	blood:	n/a	n/a

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: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs16895757	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17179010	0.87[ASN][1000 genomes]
rs17179017	0.88[ASN][1000 genomes]
rs17179038	0.88[ASN][1000 genomes]
rs17179066	0.88[ASN][1000 genomes]
rs17179101	0.83[ASN][1000 genomes]
rs17185440	0.88[ASN][1000 genomes]
rs17185447	0.88[ASN][1000 genomes]
rs3888722	0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4143366	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs55661776	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs55672647	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs55729140	0.88[ASN][1000 genomes]
rs55791644	0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs55792521	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs55884048	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55970611	0.88[ASN][1000 genomes]
rs56044823	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56104249	0.85[ASN][1000 genomes]
rs56128518	0.87[ASN][1000 genomes]
rs56236016	0.87[ASN][1000 genomes]
rs56287651	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56290866	0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56324548	0.88[ASN][1000 genomes]
rs56353080	0.88[ASN][1000 genomes]
rs56392172	0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs58075773	0.88[ASN][1000 genomes]
rs61609080	0.88[ASN][1000 genomes]
rs62391801	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62391819	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62391821	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs62391822	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62391833	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62391835	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62391842	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62391843	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62391844	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62391850	0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62391851	0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62391962	0.87[ASN][1000 genomes]
rs62391963	0.87[ASN][1000 genomes]
rs62391965	0.85[ASN][1000 genomes]
rs62394668	0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62394669	0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62394670	0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62394676	0.89[ASN][1000 genomes]
rs62394678	0.87[ASN][1000 genomes]
rs62394681	0.87[ASN][1000 genomes]
rs62394682	0.88[ASN][1000 genomes]
rs67382831	0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs71550159	0.81[EUR][1000 genomes];0.99[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:8 , 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	chr6:29756200-29756800	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr6:29756400-29756800	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr6:29756800-29757000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr6:29756800-29757000	Enhancers	Placenta Amnion	Placenta Amnion
7	chr6:29756800-29757400	Weak transcription	NHEK	skin
8	chr6:29756800-29758400	Enhancers	HMEC	breast

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