Variant report

Variant	rs56991537
Chromosome Location	chr16:72845682-72845683
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:72844160..72846981-chr16:72848813..72850427,2	K562	blood:
2	chr16:72844412..72846571-chr16:72853153..72856044,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000251868	Chromatin interaction

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs11861408	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11861672	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11863759	1.00[EUR][1000 genomes]
rs11865496	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11866292	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13329845	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13331987	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13336634	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13338662	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16971145	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16971240	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16971367	1.00[EUR][1000 genomes]
rs16971373	1.00[EUR][1000 genomes]
rs16971382	1.00[EUR][1000 genomes]
rs28464989	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28530505	1.00[EUR][1000 genomes]
rs28693857	1.00[EUR][1000 genomes]
rs28828717	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28847294	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4255793	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56804755	1.00[EUR][1000 genomes]
rs60176428	1.00[EUR][1000 genomes]
rs61192283	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61235372	1.00[EUR][1000 genomes]
rs61655021	1.00[EUR][1000 genomes]
rs6499589	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7184224	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7185566	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7187768	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7192337	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7193704	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7195234	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7197918	1.00[EUR][1000 genomes]
rs7199507	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7199594	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7202598	1.00[EUR][1000 genomes]
rs7203819	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73583171	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73583174	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73583188	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73583198	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73584928	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73584931	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73584955	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73590703	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73590712	1.00[EUR][1000 genomes]
rs73590718	1.00[EUR][1000 genomes]
rs73590724	1.00[EUR][1000 genomes]
rs73590791	1.00[EUR][1000 genomes]
rs8043976	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8045813	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8048860	1.00[AMR][1000 genomes]
rs8051123	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8051371	1.00[EUR][1000 genomes]
rs8053566	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8053837	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8061838	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9302642	1.00[AMR][1000 genomes]
rs9923235	1.00[AMR][1000 genomes]
rs9926706	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9929006	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9933331	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9933418	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9935400	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9935518	1.00[EUR][1000 genomes]
rs9935826	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9938038	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534039	chr16:72287171-72851170	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv1063049	chr16:72577004-72887111	Weak transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv542952	chr16:72577004-72887111	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:72822000-72847000	Weak transcription	Small Intestine	intestine
2	chr16:72822200-72866800	Weak transcription	Brain Angular Gyrus	brain
3	chr16:72822200-72869800	Weak transcription	Primary B cells from peripheral blood	blood
4	chr16:72822800-72855600	Weak transcription	Thymus	Thymus
5	chr16:72825200-72847600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr16:72832200-72846800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr16:72832200-72858400	Weak transcription	Brain Hippocampus Middle	brain
8	chr16:72832600-72847600	Weak transcription	Right Ventricle	heart
9	chr16:72832600-72852000	Weak transcription	Rectal Smooth Muscle	rectum
10	chr16:72832600-72874800	Weak transcription	Spleen	Spleen
11	chr16:72833000-72846200	Weak transcription	Fetal Heart	heart
12	chr16:72833000-72847600	Weak transcription	Pancreas	Pancrea
13	chr16:72833600-72856000	Weak transcription	Primary B cells from cord blood	blood
14	chr16:72833600-72861000	Weak transcription	Hela-S3	cervix
15	chr16:72833800-72861800	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr16:72834000-72848200	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr16:72834200-72847800	Weak transcription	HMEC	breast
18	chr16:72834200-72874200	Weak transcription	Primary hematopoietic stem cells	blood
19	chr16:72834800-72853200	Weak transcription	NH-A	brain
20	chr16:72834800-72872200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr16:72835000-72846800	Weak transcription	Stomach Mucosa	stomach
22	chr16:72835000-72852200	Weak transcription	Brain Cingulate Gyrus	brain
23	chr16:72835000-72853600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr16:72835200-72860800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr16:72835200-72867400	Weak transcription	NHEK	skin
26	chr16:72836400-72853000	Weak transcription	Fetal Brain Male	brain
27	chr16:72837200-72845800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr16:72839200-72846200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr16:72839800-72846000	Strong transcription	Stomach Smooth Muscle	stomach
30	chr16:72841800-72846000	Strong transcription	Muscle Satellite Cultured Cells	--
31	chr16:72842200-72849800	Strong transcription	HSMM	muscle
32	chr16:72842400-72846200	Strong transcription	A549	lung
33	chr16:72842800-72853800	Weak transcription	Psoas Muscle	Psoas
34	chr16:72843600-72851000	Weak transcription	HSMMtube	muscle
35	chr16:72844000-72846000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr16:72844000-72846000	Strong transcription	Fetal Intestine Small	intestine
37	chr16:72844200-72846000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr16:72844400-72846000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr16:72844400-72846600	Strong transcription	Fetal Intestine Large	intestine
40	chr16:72844400-72847000	Strong transcription	HepG2	liver
41	chr16:72844600-72845800	Strong transcription	NHLF	lung
42	chr16:72844600-72846000	Strong transcription	Monocytes-CD14+_RO01746	blood
43	chr16:72844600-72846200	Strong transcription	HUVEC	blood vessel
44	chr16:72844600-72846600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr16:72844800-72845800	Strong transcription	Aorta	Aorta
46	chr16:72844800-72845800	Strong transcription	Brain Anterior Caudate	brain
47	chr16:72844800-72845800	Strong transcription	Colonic Mucosa	Colon
48	chr16:72844800-72845800	Strong transcription	Colon Smooth Muscle	Colon
49	chr16:72844800-72845800	Strong transcription	Duodenum Mucosa	Duodenum
50	chr16:72844800-72845800	Strong transcription	Lung	lung

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