Variant report

Variant	rs4718164
Chromosome Location	chr7:64364639-64364640
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:64363939..64365901-chr7:64381813..64383330,2	K562	blood:
2	chr7:64351381..64353400-chr7:64363667..64366418,2	K562	blood:

Extended variants
information (count: 78 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10239449	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10243927	0.94[EUR][1000 genomes]
rs10253614	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10253636	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10256006	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10256702	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10258018	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10259016	0.94[EUR][1000 genomes]
rs10259713	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10265110	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10269760	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10274861	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10275331	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10499782	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12333583	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12531509	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12531631	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12533393	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12535068	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12535862	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12536001	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12537516	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12537864	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12537906	0.90[ASN][1000 genomes]
rs12538078	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12539165	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12539507	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12539509	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13246774	0.84[AFR][1000 genomes]
rs1405009	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1534148	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17146448	0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1830077	0.91[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs1830079	0.86[AFR][1000 genomes]
rs1830080	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1880658	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28398905	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28591657	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2863926	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2863985	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28664768	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3829005	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4382350	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4573137	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58472271	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59122385	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6460208	0.88[AFR][1000 genomes]
rs67615162	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72504857	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73354396	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73355758	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73363366	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73363367	0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7783460	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7797427	0.86[AFR][1000 genomes]
rs7802123	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs884103	0.98[AFR][1000 genomes]
rs884965	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9987044	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9987071	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2422405	chr7:63709739-64632341	Enhancers Bivalent Enhancer Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
2	nsv427787	chr7:63741770-64419520	Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	nsv464518	chr7:63881238-64506904	Enhancers ZNF genes & repeats Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
4	nsv607312	chr7:63881238-64506904	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
5	nsv888275	chr7:63990100-64468590	Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
6	nsv888276	chr7:63990100-64511564	Strong transcription ZNF genes & repeats Weak transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Active 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 miRNA target site	39 gene(s)	inside rSNPs	diseases
7	nsv1022042	chr7:64226499-64566945	Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
8	nsv1026390	chr7:64240323-64414364	Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
9	nsv1033291	chr7:64273434-64406276	Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
10	nsv508457	chr7:64286522-64391112	Strong transcription Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Weak transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
11	nsv888282	chr7:64299645-64511564	Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
12	nsv1018967	chr7:64318129-64380869	Enhancers Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
13	esv3506582	chr7:64323055-64563984	ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
14	esv3506583	chr7:64323055-64563984	Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
15	nsv1019180	chr7:64329889-64512842	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
16	nsv888283	chr7:64343985-64511564	Weak transcription Active TSS ZNF genes & repeats Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
17	esv2752165	chr7:64345822-65208605	Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
18	nsv970504	chr7:64361813-64366077	Enhancers Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4718164	ZNF273	cis	Esophagus Mucosa	GTEx

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:64362800-64364800	Active TSS	Duodenum Mucosa	Duodenum
2	chr7:64362800-64365000	Active TSS	A549	lung
3	chr7:64362800-64366000	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr7:64362800-64366000	Active TSS	iPS-15b Cell Line	embryonic stem cell
5	chr7:64362800-64366400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr7:64363000-64364800	Active TSS	iPS-18 Cell Line	embryonic stem cell
7	chr7:64363000-64364800	Active TSS	HSMM	muscle
8	chr7:64363000-64365200	Active TSS	GM12878-XiMat	blood
9	chr7:64363000-64365600	Active TSS	HUES64 Cell Line	embryonic stem cell
10	chr7:64363000-64366000	Active TSS	HUES6 Cell Line	embryonic stem cell
11	chr7:64363200-64364800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr7:64363200-64364800	Active TSS	NHLF	lung
13	chr7:64363200-64365600	Active TSS	HUES48 Cell Line	embryonic stem cell
14	chr7:64363400-64365000	Active TSS	H1 Cell Line	embryonic stem cell
15	chr7:64363400-64365000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr7:64363400-64365000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr7:64363400-64365600	Active TSS	iPS-20b Cell Line	embryonic stem cell
18	chr7:64363400-64365600	Active TSS	K562	blood
19	chr7:64363800-64365000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr7:64364000-64365000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr7:64364200-64364800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr7:64364200-64364800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
23	chr7:64364200-64364800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr7:64364200-64364800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr7:64364200-64364800	Flanking Active TSS	Fetal Brain Female	brain
26	chr7:64364200-64364800	Enhancers	Lung	lung
27	chr7:64364200-64365000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr7:64364200-64365000	Enhancers	Small Intestine	intestine
29	chr7:64364200-64365200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr7:64364200-64365800	Enhancers	Spleen	Spleen
31	chr7:64364200-64368200	Weak transcription	Left Ventricle	heart
32	chr7:64364200-64368800	Weak transcription	Pancreas	Pancrea
33	chr7:64364200-64380400	Weak transcription	Esophagus	oesophagus
34	chr7:64364400-64364800	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr7:64364400-64364800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr7:64364400-64364800	Enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr7:64364400-64364800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
38	chr7:64364400-64364800	Enhancers	Fetal Lung	lung
39	chr7:64364400-64364800	Enhancers	Fetal Muscle Trunk	muscle
40	chr7:64364400-64364800	Enhancers	Fetal Muscle Leg	muscle
41	chr7:64364400-64364800	Enhancers	Placenta	Placenta
42	chr7:64364400-64364800	Enhancers	Placenta Amnion	Placenta Amnion
43	chr7:64364400-64364800	Enhancers	Skeletal Muscle Female	skeletal muscle
44	chr7:64364400-64365000	Enhancers	Primary monocytes fromperipheralblood	blood
45	chr7:64364400-64365000	Enhancers	Primary B cells from peripheral blood	blood
46	chr7:64364400-64365000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
47	chr7:64364400-64365000	Enhancers	Fetal Heart	heart
48	chr7:64364400-64365400	Enhancers	Duodenum Smooth Muscle	Duodenum
49	chr7:64364400-64365600	Enhancers	Primary T helper naive cells from peripheral blood	blood
50	chr7:64364400-64365800	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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