Variant report

Variant	rs6564243
Chromosome Location	chr16:75296001-75296002
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:75295597..75297697-chr16:75338747..75341253,2	MCF-7	breast:
2	chr16:75294860..75296890-chr16:75320654..75322329,2	MCF-7	breast:
3	chr16:75265697..75267828-chr16:75295082..75297407,2	K562	blood:
4	chr16:75285635..75286219-chr16:75295727..75296359,2	MCF-7	breast:
5	chr16:75265485..75267197-chr16:75295049..75296582,2	K562	blood:
6	chr16:75269287..75272427-chr16:75294881..75297843,3	K562	blood:

Variant related genes	Relation type
ENSG00000050820	Chromatin interaction
ENSG00000252101	Chromatin interaction
ENSG00000153774	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs1035540	0.97[EUR][1000 genomes]
rs1107593	0.96[EUR][1000 genomes]
rs11149811	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11641896	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12924999	0.96[EUR][1000 genomes]
rs1808427	0.87[EUR][1000 genomes]
rs1862738	0.92[EUR][1000 genomes]
rs2870471	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2870472	0.97[EUR][1000 genomes]
rs3169330	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4737	0.83[EUR][1000 genomes]
rs4888361	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4888362	0.87[EUR][1000 genomes]
rs4888363	0.92[EUR][1000 genomes]
rs4888364	0.96[EUR][1000 genomes]
rs4888365	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6564239	0.84[EUR][1000 genomes]
rs6564241	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7195938	0.96[EUR][1000 genomes]
rs7202566	0.89[EUR][1000 genomes]
rs8048371	0.95[EUR][1000 genomes]
rs8048956	0.90[EUR][1000 genomes]
rs8057145	0.90[EUR][1000 genomes]
rs8059190	0.91[EUR][1000 genomes]
rs8061356	0.93[EUR][1000 genomes]
rs889514	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs889515	0.90[EUR][1000 genomes]
rs9319481	0.95[EUR][1000 genomes]
rs9927264	0.96[EUR][1000 genomes]
rs9928842	0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1061095	chr16:74519718-75407020	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
2	nsv532560	chr16:74692406-75411912	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
3	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
4	nsv833282	chr16:75154171-75330634	Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
5	nsv516504	chr16:75223491-75306402	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
6	nsv523405	chr16:75227969-75342846	Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
7	esv1806781	chr16:75235390-75307470	Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Genic enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
8	nsv906909	chr16:75236154-75316074	Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
9	esv1792587	chr16:75237936-75305783	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
10	nsv906910	chr16:75251299-75316074	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
11	nsv906911	chr16:75252526-75296247	Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
12	nsv906912	chr16:75252526-75320827	Flanking Active TSS Weak transcription Active TSS Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
13	esv1813349	chr16:75257361-75302684	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS 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	24 gene(s)	inside rSNPs	diseases
14	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
15	nsv906913	chr16:75267743-75306402	Genic enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	23 gene(s)	inside rSNPs	diseases
16	nsv471095	chr16:75269533-75320827	Weak transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	23 gene(s)	inside rSNPs	diseases
17	esv1843498	chr16:75271642-75296844	Genic enhancers Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:75286000-75297400	Enhancers	Psoas Muscle	Psoas
2	chr16:75286000-75297600	Genic enhancers	Fetal Intestine Small	intestine
3	chr16:75286000-75298000	Genic enhancers	Fetal Stomach	stomach
4	chr16:75289000-75297400	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr16:75289200-75298600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr16:75290000-75297800	Weak transcription	Fetal Kidney	kidney
7	chr16:75292200-75298600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr16:75292600-75298200	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr16:75293400-75296200	Weak transcription	HMEC	breast
10	chr16:75293800-75297200	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr16:75294000-75297600	Genic enhancers	Fetal Muscle Trunk	muscle
12	chr16:75294600-75296200	Genic enhancers	NHLF	lung
13	chr16:75294600-75297800	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr16:75294600-75297800	Enhancers	Fetal Heart	heart
15	chr16:75294600-75298000	Enhancers	Liver	Liver
16	chr16:75294800-75296200	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr16:75294800-75296200	Enhancers	HUVEC	blood vessel
18	chr16:75294800-75296600	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr16:75294800-75297000	Strong transcription	NHEK	skin
20	chr16:75294800-75297600	Genic enhancers	Fetal Muscle Leg	muscle
21	chr16:75294800-75298000	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr16:75295000-75296200	Enhancers	Adipose Nuclei	Adipose
23	chr16:75295000-75296400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr16:75295000-75296400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr16:75295000-75296400	Enhancers	Duodenum Smooth Muscle	Duodenum
26	chr16:75295000-75296400	Genic enhancers	Right Ventricle	heart
27	chr16:75295000-75296600	Enhancers	H1 Cell Line	embryonic stem cell
28	chr16:75295000-75296600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr16:75295000-75296600	Genic enhancers	Brain Germinal Matrix	brain
30	chr16:75295000-75296600	Enhancers	Brain Inferior Temporal Lobe	brain
31	chr16:75295000-75296600	Enhancers	Colon Smooth Muscle	Colon
32	chr16:75295000-75296600	Enhancers	Lung	lung
33	chr16:75295000-75296600	Enhancers	Spleen	Spleen
34	chr16:75295000-75296800	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr16:75295000-75296800	Flanking Active TSS	HepG2	liver
36	chr16:75295000-75297000	Enhancers	Placenta	Placenta
37	chr16:75295000-75297200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr16:75295000-75297200	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr16:75295000-75297200	Enhancers	Brain Angular Gyrus	brain
40	chr16:75295000-75297200	Enhancers	Brain Anterior Caudate	brain
41	chr16:75295000-75297200	Enhancers	Fetal Lung	lung
42	chr16:75295000-75297200	Enhancers	NHDF-Ad	bronchial
43	chr16:75295000-75297400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr16:75295000-75297800	Enhancers	Right Atrium	heart
45	chr16:75295000-75298000	Enhancers	Pancreas	Pancrea
46	chr16:75295000-75298200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr16:75295000-75298200	Enhancers	Ovary	ovary
48	chr16:75295000-75298400	Enhancers	Left Ventricle	heart
49	chr16:75295000-75298600	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr16:75295200-75296200	Enhancers	ES-WA7 Cell Line	embryonic stem cell

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