Variant report

Variant	rs74027438
Chromosome Location	chr16:75637306-75637307
allele	A/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	CEBPB	chr16:75637215-75637382	HepG2	liver:	n/a	chr16:75637327-75637336 chr16:75637327-75637336

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:75636450..75638612-chr16:75642410..75643991,2	K562	blood:
2	chr16:75635717..75638506-chr16:75654475..75657293,3	MCF-7	breast:

Variant related genes	Relation type
ADAT1	TF binding region
ENSG00000065457	Chromatin interaction

Extended variants
information (count: 78 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs11149842	0.88[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12445389	0.83[AMR][1000 genomes]
rs12445937	0.83[AMR][1000 genomes]
rs12446652	0.94[AMR][1000 genomes]
rs12595883	0.89[AMR][1000 genomes]
rs12596033	0.88[AMR][1000 genomes]
rs12596724	0.93[AMR][1000 genomes]
rs12596857	0.84[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs12598094	0.94[AMR][1000 genomes]
rs12598741	0.93[AMR][1000 genomes]
rs12598751	0.89[AMR][1000 genomes]
rs12599212	0.89[AMR][1000 genomes]
rs12599322	0.94[AMR][1000 genomes]
rs12600066	0.94[AMR][1000 genomes]
rs12600271	0.94[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs16940253	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16940467	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17697211	0.89[AMR][1000 genomes]
rs17764821	0.84[AMR][1000 genomes]
rs1812507	0.89[AMR][1000 genomes]
rs1836547	0.85[AMR][1000 genomes]
rs1979717	0.90[AMR][1000 genomes]
rs2082751	0.96[ASN][1000 genomes]
rs2164245	0.89[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs2242406	0.91[AMR][1000 genomes]
rs2278469	0.89[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs2289063	0.88[AMR][1000 genomes]
rs2903106	0.82[ASN][1000 genomes]
rs3736377	0.84[AMR][1000 genomes]
rs3743599	0.88[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs3743601	0.89[AMR][1000 genomes]
rs3743603	0.94[AMR][1000 genomes]
rs3743605	0.97[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3851741	0.85[AMR][1000 genomes]
rs41505349	0.82[ASN][1000 genomes]
rs4887833	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4888436	0.94[AMR][1000 genomes]
rs4888437	0.94[AMR][1000 genomes]
rs4888440	0.88[AMR][1000 genomes]
rs4888442	0.89[AMR][1000 genomes]
rs5010692	0.84[ASN][1000 genomes]
rs57252551	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs57396453	0.84[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs58273293	0.93[AMR][1000 genomes]
rs58508930	0.88[AMR][1000 genomes]
rs58597869	0.95[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs58673511	0.84[AMR][1000 genomes]
rs58719566	0.94[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs59907199	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60393074	0.94[AMR][1000 genomes]
rs60952428	0.87[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs61036571	0.89[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs61078946	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61539645	0.82[AMR][1000 genomes]
rs6564268	0.94[AMR][1000 genomes]
rs7186966	0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs7187672	0.89[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs7193066	0.84[AMR][1000 genomes]
rs7195338	0.90[AMR][1000 genomes]
rs719574	0.89[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs7206799	0.89[AMR][1000 genomes]
rs73615030	0.84[ASN][1000 genomes]
rs7499759	0.93[AMR][1000 genomes]
rs8051241	0.85[ASN][1000 genomes]
rs8051713	0.89[AMR][1000 genomes]
rs8056968	0.93[AMR][1000 genomes]
rs8060972	0.89[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs8192516	0.93[AMR][1000 genomes]
rs963820	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9788802	0.88[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs9934159	0.85[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	nsv532562	chr16:75614947-76371158	Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
4	nsv1062010	chr16:75628562-75825725	Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
5	nsv1064880	chr16:75628562-75895699	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats 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	43 gene(s)	inside rSNPs	diseases
6	nsv542960	chr16:75628562-75895699	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
7	nsv1065543	chr16:75631306-75800170	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:75625600-75648000	Weak transcription	Fetal Heart	heart
2	chr16:75629000-75650600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr16:75629600-75654800	Strong transcription	Fetal Stomach	stomach
4	chr16:75630200-75638200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr16:75630600-75654600	Strong transcription	Fetal Intestine Large	intestine
6	chr16:75630800-75638000	Strong transcription	Adipose Nuclei	Adipose
7	chr16:75631000-75638000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr16:75631000-75638000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr16:75631000-75638200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr16:75631000-75649400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr16:75631200-75637400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr16:75631400-75641800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr16:75631400-75654600	Strong transcription	Brain Hippocampus Middle	brain
14	chr16:75631400-75654600	Strong transcription	Fetal Muscle Leg	muscle
15	chr16:75631400-75655200	Strong transcription	Fetal Muscle Trunk	muscle
16	chr16:75632000-75639000	Strong transcription	Primary T cells fromperipheralblood	blood
17	chr16:75632200-75638000	Strong transcription	Muscle Satellite Cultured Cells	--
18	chr16:75632600-75654800	Strong transcription	HUES6 Cell Line	embryonic stem cell
19	chr16:75632800-75637800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr16:75632800-75643000	Strong transcription	HepG2	liver
21	chr16:75633000-75637800	Strong transcription	Ovary	ovary
22	chr16:75633000-75638000	Strong transcription	Skeletal Muscle Female	skeletal muscle
23	chr16:75633000-75638000	Strong transcription	Stomach Smooth Muscle	stomach
24	chr16:75633000-75654400	Strong transcription	Primary monocytes fromperipheralblood	blood
25	chr16:75633000-75654400	Strong transcription	Fetal Thymus	thymus
26	chr16:75633200-75638200	Strong transcription	Brain Anterior Caudate	brain
27	chr16:75633200-75638200	Strong transcription	Lung	lung
28	chr16:75633200-75638200	Strong transcription	Osteobl	bone
29	chr16:75633200-75654800	Strong transcription	Liver	Liver
30	chr16:75633400-75637400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr16:75633400-75637600	Strong transcription	Primary T killer memory cells from peripheral blood	blood
32	chr16:75633400-75637600	Strong transcription	Pancreatic Islets	Pancreatic Islet
33	chr16:75633400-75637800	Strong transcription	Brain Cingulate Gyrus	brain
34	chr16:75633400-75638000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr16:75633400-75638000	Strong transcription	Gastric	stomach
36	chr16:75633400-75638200	Strong transcription	Brain Germinal Matrix	brain
37	chr16:75633400-75638200	Strong transcription	Sigmoid Colon	Sigmoid Colon
38	chr16:75633400-75638800	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr16:75633400-75638800	Strong transcription	Brain Inferior Temporal Lobe	brain
40	chr16:75633400-75639200	Strong transcription	ES-I3 Cell Line	embryonic stem cell
41	chr16:75633400-75653200	Strong transcription	Rectal Mucosa Donor 29	rectum
42	chr16:75633600-75638000	Strong transcription	Spleen	Spleen
43	chr16:75633600-75638800	Strong transcription	Left Ventricle	heart
44	chr16:75633600-75643200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr16:75633800-75638800	Strong transcription	Brain Angular Gyrus	brain
46	chr16:75634000-75637800	Strong transcription	Esophagus	oesophagus
47	chr16:75634400-75638200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr16:75634400-75654600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr16:75634400-75654800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr16:75635000-75638000	Strong transcription	NHLF	lung

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