Variant report

Variant	rs34045040
Chromosome Location	chr7:64386062-64386063
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:64384777..64386420-chr7:64388567..64390560,2	MCF-7	breast:
2	chr7:64379064..64380990-chr7:64384632..64386580,2	K562	blood:
3	chr7:64384870..64387143-chr7:64389690..64392523,2	K562	blood:

Extended variants
information (count: 36 )
Associated
traits (count: 20 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11760831	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11768507	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13223958	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13225722	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1524824	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17708491	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2091228	0.83[ASN][1000 genomes]
rs2902611	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34725314	0.84[ASN][1000 genomes]
rs34864313	0.88[ASN][1000 genomes]
rs35802638	0.84[ASN][1000 genomes]
rs35916947	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4718145	0.82[ASN][1000 genomes]
rs4718166	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4718167	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62455064	0.93[ASN][1000 genomes]
rs62458431	0.84[ASN][1000 genomes]
rs7796966	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9638208	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9638403	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 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	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
13	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
14	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
15	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
16	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

mRNA abundance (count:20)

SNP	Gene	Cis/trans	Tissue	Source
rs34045040	RP11-797H7.3	cis	Heart Left Ventricle	GTEx
rs34045040	RP11-797H7.3	cis	Stomach	GTEx
rs34045040	INTS4L1	cis	Skin Sun Exposed Lower leg	GTEx
rs34045040	RP11-797H7.5	cis	lung	GTEx
rs34045040	SEPHS1P1	cis	Nerve Tibial	GTEx
rs34045040	RP11-797H7.3	cis	Muscle Skeletal	GTEx
rs34045040	CCT6P3	cis	Esophagus Mucosa	GTEx
rs34045040	RP11-797H7.3	cis	Skin Sun Exposed Lower leg	GTEx
rs34045040	RP11-797H7.3	cis	Esophagus Muscularis	GTEx
rs34045040	RP11-797H7.3	cis	Thyroid	GTEx
rs34045040	RP11-797H7.3	cis	lung	GTEx
rs34045040	SEPHS1P1	cis	Artery Tibial	GTEx
rs34045040	CCT6P3	cis	Nerve Tibial	GTEx
rs34045040	RP11-797H7.3	cis	Artery Tibial	GTEx
rs34045040	CCT6P3	cis	Adipose Subcutaneous	GTEx
rs34045040	RP11-797H7.3	cis	Adipose Subcutaneous	GTEx
rs34045040	RP11-797H7.3	cis	Nerve Tibial	GTEx
rs34045040	RP11-797H7.5	cis	Thyroid	GTEx
rs34045040	SEPHS1P1	cis	Muscle Skeletal	GTEx
rs34045040	RP11-797H7.3	cis	Esophagus Mucosa	GTEx

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:64364600-64386400	Weak transcription	HUVEC	blood vessel
2	chr7:64364600-64387200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr7:64367800-64392600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr7:64368000-64390200	ZNF genes & repeats	Dnd41	blood
5	chr7:64369000-64387200	Weak transcription	Left Ventricle	heart
6	chr7:64369600-64387400	Weak transcription	Pancreas	Pancrea
7	chr7:64369800-64390400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr7:64371800-64390000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
9	chr7:64372200-64392600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr7:64374400-64387600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr7:64375200-64389200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr7:64375200-64390000	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr7:64376000-64386200	Weak transcription	Brain Hippocampus Middle	brain
14	chr7:64376600-64388000	Weak transcription	Brain Anterior Caudate	brain
15	chr7:64376600-64389200	Weak transcription	Right Ventricle	heart
16	chr7:64376800-64389200	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr7:64377000-64388800	ZNF genes & repeats	GM12878-XiMat	blood
18	chr7:64377600-64389400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
19	chr7:64377600-64389600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr7:64378000-64400800	Weak transcription	Brain Angular Gyrus	brain
21	chr7:64378200-64387200	Weak transcription	Fetal Heart	heart
22	chr7:64378200-64387800	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
23	chr7:64378200-64389200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
24	chr7:64378600-64389400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr7:64378800-64389000	Weak transcription	Stomach Smooth Muscle	stomach
26	chr7:64379000-64387200	Weak transcription	Placenta	Placenta
27	chr7:64379200-64386200	Weak transcription	Hela-S3	cervix
28	chr7:64379600-64390600	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
29	chr7:64381000-64386200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr7:64381200-64392600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr7:64381400-64386400	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
32	chr7:64382200-64388000	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood
33	chr7:64382200-64389600	ZNF genes & repeats	Primary B cells from cord blood	blood
34	chr7:64382200-64390000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
35	chr7:64382200-64391000	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr7:64382600-64389600	ZNF genes & repeats	Liver	Liver
37	chr7:64382800-64389400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr7:64383000-64386200	Weak transcription	NHDF-Ad	bronchial
39	chr7:64383000-64389200	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
40	chr7:64383000-64389400	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
41	chr7:64383000-64390000	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
42	chr7:64383000-64391000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
43	chr7:64383200-64387400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr7:64383200-64389400	ZNF genes & repeats	K562	blood
45	chr7:64383400-64387200	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr7:64383600-64390400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
47	chr7:64383800-64390600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
48	chr7:64384000-64386400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr7:64384000-64387200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr7:64384000-64387200	Weak transcription	Ovary	ovary

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