Variant report

Variant	rs56071952
Chromosome Location	chr16:75537237-75537238
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:75527053..75529439-chr16:75537012..75541443,4	K562	blood:
2	chr16:75535727..75537338-chr16:75540511..75542867,2	MCF-7	breast:
3	chr16:75536938..75540823-chr16:75549516..75552807,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000262583	Chromatin interaction
ENSG00000183196	Chromatin interaction

Extended variants
information (count: 81 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs11860163	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11860309	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35197539	0.85[AMR][1000 genomes]
rs455579	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs459211	1.00[AMR][1000 genomes]
rs55722812	0.87[AMR][1000 genomes]
rs56791151	0.87[AMR][1000 genomes]
rs56995694	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57155217	0.87[AMR][1000 genomes]
rs57543848	0.87[AMR][1000 genomes]
rs57738876	0.87[AMR][1000 genomes]
rs57768222	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs57829605	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58669977	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58986524	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59034986	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59575876	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs60159223	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs60407291	0.87[AMR][1000 genomes]
rs60562747	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60704421	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs60994854	1.00[AMR][1000 genomes]
rs6564263	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6564264	0.87[AMR][1000 genomes]
rs7184132	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7186203	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7188429	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs7189782	0.87[AMR][1000 genomes]
rs7189978	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7192958	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7194322	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs7194947	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7206077	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73610885	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73610887	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73610898	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73612804	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73612809	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73612811	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73612838	0.87[AMR][1000 genomes]
rs74027405	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs8048381	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8051685	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8054411	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8062862	0.87[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:36 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916502	chr16:74845880-75732365	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	131 gene(s)	inside rSNPs	diseases
2	nsv931939	chr16:75261354-75765025	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
3	nsv1065995	chr16:75373756-75626027	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases
4	nsv1063718	chr16:75395969-75608071	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	64 gene(s)	inside rSNPs	diseases
5	esv2758432	chr16:75419614-75576971	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
6	esv2758657	chr16:75419614-75576971	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
7	nsv525955	chr16:75473332-75628345	Strong transcription Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
8	nsv457521	chr16:75487758-75603925	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent/Poised 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	57 gene(s)	inside rSNPs	diseases
9	nsv572979	chr16:75487758-75603925	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
10	esv3485939	chr16:75497453-75550284	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
11	esv3485940	chr16:75497453-75550284	Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
12	nsv572980	chr16:75505046-75549885	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
13	esv3313995	chr16:75512166-75566404	Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
14	esv3313996	chr16:75512166-75566404	Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Enhancers Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
15	nsv532561	chr16:75519574-75636977	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
16	nsv572981	chr16:75521030-75581160	Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
17	nsv1059777	chr16:75522954-75572713	Bivalent/Poised TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
18	nsv516675	chr16:75528511-75572012	Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
19	nsv906914	chr16:75528511-75573884	Strong transcription Enhancers Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
20	nsv906915	chr16:75528511-75574729	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
21	nsv906916	chr16:75528511-75579233	Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
22	nsv906917	chr16:75528511-75581160	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer 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	21 gene(s)	inside rSNPs	diseases
23	esv3509911	chr16:75531267-75573060	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases
24	esv3509912	chr16:75531267-75573060	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases
25	esv2647265	chr16:75532031-75573468	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases
26	nsv906918	chr16:75532044-75573884	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases
27	nsv906919	chr16:75532044-75579233	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases
28	esv3430822	chr16:75532230-75572596	Weak transcription Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases
29	esv3417877	chr16:75532542-75572654	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases
30	nsv1062535	chr16:75533659-75575997	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases
31	nsv1065709	chr16:75533659-75583008	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
32	esv2763141	chr16:75533671-75575998	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases
33	nsv1060637	chr16:75534278-75575997	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases
34	nsv1055697	chr16:75535360-75575997	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases
35	nsv9461	chr16:75536123-75576182	Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases
36	nsv1057506	chr16:75536272-75575997	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:75529400-75550000	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr16:75529600-75541800	Weak transcription	Right Atrium	heart
3	chr16:75529800-75537800	Weak transcription	Duodenum Mucosa	Duodenum
4	chr16:75529800-75550200	Weak transcription	Spleen	Spleen
5	chr16:75532600-75540000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr16:75532600-75549800	Weak transcription	Brain Anterior Caudate	brain
7	chr16:75532800-75550400	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr16:75533800-75550200	Weak transcription	Small Intestine	intestine
9	chr16:75534200-75550400	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr16:75534400-75550600	Weak transcription	Aorta	Aorta
11	chr16:75534600-75538200	Enhancers	Fetal Muscle Trunk	muscle
12	chr16:75534600-75547400	Weak transcription	Fetal Intestine Small	intestine
13	chr16:75535400-75538000	Enhancers	HMEC	breast
14	chr16:75535600-75550200	Weak transcription	Brain Hippocampus Middle	brain
15	chr16:75535800-75537600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr16:75535800-75538000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr16:75535800-75543400	Weak transcription	HSMMtube	muscle
18	chr16:75536000-75550200	Weak transcription	Brain Cingulate Gyrus	brain
19	chr16:75536200-75540000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr16:75536200-75540000	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr16:75536200-75550000	Weak transcription	Colon Smooth Muscle	Colon
22	chr16:75536400-75537800	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr16:75536400-75538000	Weak transcription	Rectal Smooth Muscle	rectum
24	chr16:75536400-75539800	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr16:75536400-75549800	Weak transcription	Stomach Smooth Muscle	stomach
26	chr16:75536400-75550000	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr16:75536400-75550000	Weak transcription	Brain Substantia Nigra	brain
28	chr16:75536600-75539600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr16:75536800-75540400	Weak transcription	Fetal Muscle Leg	muscle
30	chr16:75537000-75538000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
31	chr16:75537200-75539200	Weak transcription	Hela-S3	cervix
32	chr16:75537200-75539800	Weak transcription	NHEK	skin
33	chr16:75537200-75540000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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