Variant report

Variant	rs6924097
Chromosome Location	chr6:29967736-29967737
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	CTCF	chr6:29967640-29967790	HFF-Myc	foreskin:	n/a	n/a

Variant related genes	Relation type
MCCD1P2	TF binding region

Extended variants
information (count: 208 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:194)

rs_ID	r²[population]
rs1051133	0.80[EUR][1000 genomes]
rs10745	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2107201	0.85[EUR][1000 genomes]
rs2232239	0.80[EUR][1000 genomes]
rs2240067	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2275853	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2894000	0.80[EUR][1000 genomes]
rs3734832	0.85[EUR][1000 genomes]
rs3734836	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3757332	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3807030	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3807036	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3823364	0.80[EUR][1000 genomes]
rs3823372	0.80[EUR][1000 genomes]
rs3823384	0.80[EUR][1000 genomes]
rs3891156	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3891157	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3901554	0.85[EUR][1000 genomes]
rs60466513	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6903621	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6904120	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6904969	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6912454	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6919438	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6920254	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6923832	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6923856	0.81[EUR][1000 genomes]
rs6924054	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6924273	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6925061	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6925856	0.82[AMR][1000 genomes]
rs7770505	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7771476	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7771672	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9260828	0.80[EUR][1000 genomes]
rs9260830	0.80[EUR][1000 genomes]
rs9260837	0.80[EUR][1000 genomes]
rs9260860	0.80[EUR][1000 genomes]
rs9260861	0.80[EUR][1000 genomes]
rs9260863	0.80[EUR][1000 genomes]
rs9260864	0.83[EUR][1000 genomes]
rs9260865	0.80[EUR][1000 genomes]
rs9260870	0.80[EUR][1000 genomes]
rs9260914	0.85[EUR][1000 genomes]
rs9260915	0.83[EUR][1000 genomes]
rs9260917	0.85[EUR][1000 genomes]
rs9260919	0.85[EUR][1000 genomes]
rs9260921	0.85[EUR][1000 genomes]
rs9260923	0.85[EUR][1000 genomes]
rs9260929	0.85[EUR][1000 genomes]
rs9260930	0.85[EUR][1000 genomes]
rs9260931	0.85[EUR][1000 genomes]
rs9260932	0.85[EUR][1000 genomes]
rs9260933	0.85[EUR][1000 genomes]
rs9260935	0.87[EUR][1000 genomes]
rs9260936	0.87[EUR][1000 genomes]
rs9260938	0.87[EUR][1000 genomes]
rs9260939	0.87[EUR][1000 genomes]
rs9260941	0.87[EUR][1000 genomes]
rs9260943	0.87[EUR][1000 genomes]
rs9260946	0.87[EUR][1000 genomes]
rs9260948	0.87[EUR][1000 genomes]
rs9260950	0.87[EUR][1000 genomes]
rs9260954	0.87[EUR][1000 genomes]
rs9260957	0.87[EUR][1000 genomes]
rs9260958	0.87[EUR][1000 genomes]
rs9260976	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9260981	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9260984	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9260986	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9260993	0.88[AMR][1000 genomes]
rs9260998	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9261005	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9261025	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9261027	0.87[EUR][1000 genomes]
rs9261028	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9261029	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9261032	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9261034	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9261035	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9261036	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9261037	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9261040	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9261041	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9261042	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9261044	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9261045	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9261046	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9261056	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9261058	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9261059	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9261063	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9261064	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9261065	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9261066	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9261068	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9261069	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9261070	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9261071	0.94[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9261072	0.94[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9261073	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9261075	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9261076	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9261079	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9261080	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9261082	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9261083	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9261084	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9261085	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9261086	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9261087	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9261088	0.92[EUR][1000 genomes]
rs9261089	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9261090	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9261091	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9261093	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9261094	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9261095	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9261096	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9261099	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9261101	0.85[EUR][1000 genomes]
rs9261108	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9261109	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9261114	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9261118	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9261130	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9261132	0.81[EUR][1000 genomes]
rs9261133	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9261138	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9261141	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9261146	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9261147	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9261151	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9261156	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9261158	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9261159	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9261160	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9261169	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9261171	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9261175	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9261176	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9261177	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9261179	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9261184	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9261191	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9261193	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9261203	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9261207	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9261213	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9261214	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9261218	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9261219	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9261220	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9261223	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9261226	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9261242	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9261248	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9261250	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9261253	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9261257	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9261263	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9261264	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9261265	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9261270	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9261271	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9261273	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9261276	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9261284	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9261285	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9261286	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9261287	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9261296	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9261305	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9261312	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9261314	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9261315	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9261316	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9261317	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9261319	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9261359	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9261360	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9261361	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9261362	0.82[AMR][1000 genomes]
rs9261364	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9261365	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9261367	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9261369	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9261372	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9261374	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9261377	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9261379	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9261381	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9261382	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9261386	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	esv2758040	chr6:29792434-29975144	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	esv2759412	chr6:29792434-29975144	Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
5	esv3391180	chr6:29798321-29977430	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
6	nsv508398	chr6:29825777-30003403	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
7	esv3373906	chr6:29884407-29977070	Flanking Bivalent TSS/Enh Weak transcription Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
8	esv2641340	chr6:29913287-29978544	Strong transcription Enhancers Bivalent/Poised TSS Weak transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
9	esv3378806	chr6:29913464-29978179	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
10	esv3496792	chr6:29913818-29977071	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
11	esv3496793	chr6:29913818-29977071	Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
12	nsv1031115	chr6:29934199-30058223	Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
13	nsv538172	chr6:29934199-30058223	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
14	nsv601475	chr6:29963179-29977973	Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs6924097	C6orf12	Cis_1M	lymphoblastoid	RTeQTL
rs6924097	PPP1R11	Cis_1M	lymphoblastoid	RTeQTL
rs6924097	HLA-A	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:29962400-29968400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr6:29964400-29974400	Weak transcription	Hela-S3	cervix
3	chr6:29966800-29974000	Weak transcription	Spleen	Spleen
4	chr6:29967200-29968200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
5	chr6:29967400-29967800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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