Variant report

Variant	rs72654753
Chromosome Location	chr6:76456448-76456449
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	POLR2A	chr6:76456186-76456476	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:76456068..76458008-chr6:76564755..76567247,2	MCF-7	breast:
2	chr6:76452171..76456681-chr6:76457096..76463079,8	MCF-7	breast:

Variant related genes	Relation type
MYO6	TF binding region
ENSG00000196586	Chromatin interaction

Extended variants
information (count: 168 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:141)

rs_ID	r²[population]
rs11963710	0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11964201	0.91[ASN][1000 genomes]
rs11967411	0.91[ASN][1000 genomes]
rs11968058	0.91[ASN][1000 genomes]
rs11968226	0.89[ASN][1000 genomes]
rs11969264	0.91[ASN][1000 genomes]
rs12660075	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12660330	0.91[ASN][1000 genomes]
rs12660493	0.91[ASN][1000 genomes]
rs12661973	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12662012	0.81[EUR][1000 genomes]
rs12662248	0.96[ASN][1000 genomes]
rs12662475	0.91[ASN][1000 genomes]
rs12662565	0.91[ASN][1000 genomes]
rs12662672	0.91[ASN][1000 genomes]
rs12662718	0.85[ASN][1000 genomes]
rs12662824	0.99[ASN][1000 genomes]
rs12663203	0.91[ASN][1000 genomes]
rs12663535	1.00[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs12664027	1.00[EUR][1000 genomes]
rs12664146	0.87[ASN][1000 genomes]
rs12664721	0.94[ASN][1000 genomes]
rs12664742	0.96[ASN][1000 genomes]
rs12665404	0.87[ASN][1000 genomes]
rs13205059	0.91[ASN][1000 genomes]
rs16879451	0.96[ASN][1000 genomes]
rs2273858	0.87[ASN][1000 genomes]
rs2275114	1.00[EUR][1000 genomes]
rs35780943	1.00[EUR][1000 genomes]
rs3778009	0.86[ASN][1000 genomes]
rs3798436	0.83[ASN][1000 genomes]
rs3798445	0.89[ASN][1000 genomes]
rs3798450	0.91[ASN][1000 genomes]
rs3798451	0.91[ASN][1000 genomes]
rs3798452	0.96[ASN][1000 genomes]
rs3798453	0.96[ASN][1000 genomes]
rs3798456	0.96[ASN][1000 genomes]
rs3798457	0.99[ASN][1000 genomes]
rs56251027	0.89[ASN][1000 genomes]
rs59710688	0.91[ASN][1000 genomes]
rs60360183	0.91[ASN][1000 genomes]
rs61620194	0.91[ASN][1000 genomes]
rs67182025	0.91[ASN][1000 genomes]
rs72653192	0.81[EUR][1000 genomes]
rs72653196	0.81[EUR][1000 genomes]
rs72653198	0.81[EUR][1000 genomes]
rs72654703	1.00[EUR][1000 genomes]
rs72654704	1.00[EUR][1000 genomes]
rs72654705	1.00[EUR][1000 genomes]
rs72654706	1.00[EUR][1000 genomes]
rs72654707	1.00[EUR][1000 genomes]
rs72654708	1.00[EUR][1000 genomes]
rs72654709	1.00[EUR][1000 genomes]
rs72654710	0.91[EUR][1000 genomes]
rs72654711	1.00[EUR][1000 genomes]
rs72654712	1.00[EUR][1000 genomes]
rs72654713	1.00[EUR][1000 genomes]
rs72654715	0.83[EUR][1000 genomes]
rs72654716	1.00[EUR][1000 genomes]
rs72654717	1.00[EUR][1000 genomes]
rs72654718	1.00[EUR][1000 genomes]
rs72654719	1.00[EUR][1000 genomes]
rs72654720	1.00[EUR][1000 genomes]
rs72654721	1.00[EUR][1000 genomes]
rs72654722	1.00[EUR][1000 genomes]
rs72654723	1.00[EUR][1000 genomes]
rs72654724	0.83[EUR][1000 genomes]
rs72654725	1.00[EUR][1000 genomes]
rs72654727	1.00[EUR][1000 genomes]
rs72654728	1.00[EUR][1000 genomes]
rs72654729	1.00[EUR][1000 genomes]
rs72654730	1.00[EUR][1000 genomes]
rs72654731	1.00[EUR][1000 genomes]
rs72654732	1.00[EUR][1000 genomes]
rs72654733	1.00[EUR][1000 genomes]
rs72654734	1.00[EUR][1000 genomes]
rs72654735	1.00[EUR][1000 genomes]
rs72654736	1.00[EUR][1000 genomes]
rs72654737	1.00[EUR][1000 genomes]
rs72654738	1.00[EUR][1000 genomes]
rs72654739	1.00[EUR][1000 genomes]
rs72654740	1.00[EUR][1000 genomes]
rs72654741	1.00[EUR][1000 genomes]
rs72654742	1.00[EUR][1000 genomes]
rs72654743	1.00[EUR][1000 genomes]
rs72654744	1.00[EUR][1000 genomes]
rs72654745	1.00[EUR][1000 genomes]
rs72654746	1.00[EUR][1000 genomes]
rs72654747	1.00[EUR][1000 genomes]
rs72654748	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72654749	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72654750	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72654751	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72654752	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72654754	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72654755	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72654756	0.99[ASN][1000 genomes]
rs72654757	1.00[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs72654758	1.00[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs72654759	0.96[ASN][1000 genomes]
rs72654760	0.96[ASN][1000 genomes]
rs72654761	0.96[ASN][1000 genomes]
rs72654762	0.93[ASN][1000 genomes]
rs72654763	0.96[ASN][1000 genomes]
rs72654764	0.91[ASN][1000 genomes]
rs72654765	0.91[ASN][1000 genomes]
rs72654766	0.91[ASN][1000 genomes]
rs72654767	0.91[ASN][1000 genomes]
rs72654769	0.91[ASN][1000 genomes]
rs72654770	0.91[ASN][1000 genomes]
rs72654771	0.91[ASN][1000 genomes]
rs72654772	0.91[ASN][1000 genomes]
rs72654773	0.91[ASN][1000 genomes]
rs72654774	0.91[ASN][1000 genomes]
rs72654775	0.91[ASN][1000 genomes]
rs72654776	0.91[ASN][1000 genomes]
rs72654777	0.91[ASN][1000 genomes]
rs72654778	0.91[ASN][1000 genomes]
rs72654779	0.91[ASN][1000 genomes]
rs72654780	0.91[ASN][1000 genomes]
rs72654781	0.87[ASN][1000 genomes]
rs72654783	0.87[ASN][1000 genomes]
rs72654784	0.87[ASN][1000 genomes]
rs72654785	0.87[ASN][1000 genomes]
rs72654786	0.87[ASN][1000 genomes]
rs72654787	0.87[ASN][1000 genomes]
rs72654788	0.83[ASN][1000 genomes]
rs73751021	0.90[ASN][1000 genomes]
rs73751022	0.91[ASN][1000 genomes]
rs73751024	0.91[ASN][1000 genomes]
rs7761217	0.96[ASN][1000 genomes]
rs9443187	0.99[ASN][1000 genomes]
rs9443191	0.91[ASN][1000 genomes]
rs9443192	0.91[ASN][1000 genomes]
rs9447543	0.99[ASN][1000 genomes]
rs9447544	0.99[ASN][1000 genomes]
rs9447545	0.99[ASN][1000 genomes]
rs9447546	0.96[ASN][1000 genomes]
rs9447549	0.96[ASN][1000 genomes]
rs9447552	0.96[ASN][1000 genomes]
rs9447555	0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:27 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1027915	chr6:75893542-76510113	Active TSS Enhancers Strong transcription Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
2	nsv538311	chr6:75893542-76510113	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
3	nsv1022428	chr6:76023118-76575620	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	48 gene(s)	inside rSNPs	diseases
4	nsv538312	chr6:76023118-76575620	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	48 gene(s)	inside rSNPs	diseases
5	nsv1032245	chr6:76045537-76545703	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	47 gene(s)	inside rSNPs	diseases
6	nsv538313	chr6:76045537-76545703	Strong transcription Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	47 gene(s)	inside rSNPs	diseases
7	nsv1019328	chr6:76154751-76604197	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
8	nsv538314	chr6:76154751-76604197	Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
9	nsv1023331	chr6:76238459-76482117	Strong transcription ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
10	nsv538315	chr6:76238459-76482117	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
11	nsv1017542	chr6:76238459-76537447	Strong transcription Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
12	nsv1031745	chr6:76257913-76493355	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
13	nsv538316	chr6:76257913-76493355	Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
14	nsv533100	chr6:76257914-76493354	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
15	nsv1023749	chr6:76287578-76482117	Weak transcription Flanking Active TSS Genic enhancers Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
16	nsv538317	chr6:76287578-76482117	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
17	nsv1021090	chr6:76306100-76759397	Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
18	nsv538318	chr6:76306100-76759397	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
19	nsv886184	chr6:76320846-76462711	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
20	nsv886185	chr6:76320846-76498109	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
21	nsv886186	chr6:76328955-76469115	Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
22	nsv1032961	chr6:76343575-76788852	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
23	nsv932201	chr6:76365548-77219650	Enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
24	nsv886187	chr6:76408950-76469115	Strong transcription Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
25	nsv1028340	chr6:76410921-76960225	Flanking Bivalent TSS/Enh Strong transcription Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
26	nsv538319	chr6:76410921-76960225	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
27	nsv886188	chr6:76411843-76469115	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:76450600-76458000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr6:76451200-76458200	Weak transcription	Esophagus	oesophagus
3	chr6:76451800-76458000	Weak transcription	Brain Anterior Caudate	brain
4	chr6:76455800-76456600	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr6:76455800-76458200	Weak transcription	Gastric	stomach
6	chr6:76456000-76456600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr6:76456000-76456600	Enhancers	Small Intestine	intestine
8	chr6:76456400-76456800	Weak transcription	Fetal Intestine Small	intestine
9	chr6:76456400-76457200	Weak transcription	Duodenum Mucosa	Duodenum
10	chr6:76456400-76458000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr6:76456400-76458000	Weak transcription	Brain Cingulate Gyrus	brain
12	chr6:76456400-76458000	Weak transcription	Brain Hippocampus Middle	brain
13	chr6:76456400-76458000	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr6:76456400-76458000	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr6:76456400-76458200	Weak transcription	Pancreas	Pancrea

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