Variant report

Variant	rs34740469
Chromosome Location	chr4:76911752-76911753
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:76860117..76861999-chr4:76911234..76914144,3	K562	blood:
2	chr4:76859777..76862033-chr4:76910435..76912057,2	K562	blood:
3	chr4:76861625..76863720-chr4:76909476..76912300,3	MCF-7	breast:
4	chr4:76910728..76913331-chr4:77052548..77055482,2	MCF-7	breast:
5	chr4:76910224..76911940-chr4:76940902..76942598,2	MCF-7	breast:
6	chr4:76910882..76913070-chr4:77069181..77071952,2	MCF-7	breast:
7	chr4:76896669..76899167-chr4:76911311..76914671,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000138750	Chromatin interaction
ENSG00000198301	Chromatin interaction
ENSG00000138744	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 8 )

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

rs_ID	r²[population]
rs10007919	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10009947	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10021434	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10029157	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10031733	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10031983	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10518143	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12374321	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12374370	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12649185	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13112512	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13118503	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13129896	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17001247	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1857821	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2242470	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2271528	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2276886	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28375800	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28422144	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28451731	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28532601	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28535831	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28588114	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28595360	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28647886	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2869462	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34630680	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3733238	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3796484	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4241577	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4429750	0.84[EUR][1000 genomes]
rs4859570	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4859571	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4859572	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4859573	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4859577	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4859578	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4859580	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55876513	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs66498356	0.87[ASN][1000 genomes]
rs6847815	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs884004	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs884304	0.81[EUR][1000 genomes]
rs9994667	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3353539	chr4:76530136-76993859	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv529613	chr4:76654941-77081576	Flanking Active TSS Weak transcription Genic enhancers Strong transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv1004627	chr4:76793910-76999584	Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs34740469	ASAHL	cis	multi-tissue	Pritchard
rs34740469	NAAA	cis	Esophagus Mucosa	GTEx
rs34740469	NAAA	cis	Esophagus Muscularis	GTEx
rs34740469	NAAA	cis	Artery Aorta	GTEx
rs34740469	NAAA	cis	Whole Blood	GTEx
rs34740469	ASAHL	Cis_1M	lymphoblastoid	RTeQTL
rs34740469	NAAA	cis	Muscle Skeletal	GTEx
rs34740469	CXCL10	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:76910200-76911800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr4:76910200-76912600	Active TSS	Right Ventricle	heart
3	chr4:76910400-76912200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
4	chr4:76910400-76912600	Active TSS	H1 Cell Line	embryonic stem cell
5	chr4:76910400-76912600	Active TSS	NHLF	lung
6	chr4:76910400-76912800	Active TSS	A549	lung
7	chr4:76910600-76912200	Active TSS	HepG2	liver
8	chr4:76910600-76912400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr4:76910600-76912600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr4:76910600-76912600	Active TSS	Fetal Intestine Large	intestine
11	chr4:76910800-76911800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr4:76910800-76912000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
13	chr4:76910800-76912200	Active TSS	Fetal Muscle Trunk	muscle
14	chr4:76910800-76912400	Active TSS	H9 Cell Line	embryonic stem cell
15	chr4:76910800-76912400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr4:76910800-76912400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr4:76910800-76912400	Active TSS	Lung	lung
18	chr4:76910800-76912600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr4:76910800-76912600	Flanking Active TSS	Primary B cells from cord blood	blood
20	chr4:76910800-76912600	Active TSS	Right Atrium	heart
21	chr4:76910800-76912600	Active TSS	HSMM	muscle
22	chr4:76911000-76912200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
23	chr4:76911000-76912200	Active TSS	Fetal Intestine Small	intestine
24	chr4:76911000-76912400	Active TSS	HUES48 Cell Line	embryonic stem cell
25	chr4:76911000-76912400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr4:76911000-76912400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr4:76911000-76912400	Active TSS	Breast Myoepithelial Primary Cells	Breast
28	chr4:76911000-76912400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr4:76911000-76912400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr4:76911000-76912400	Active TSS	Fetal Lung	lung
31	chr4:76911000-76912400	Active TSS	Fetal Muscle Leg	muscle
32	chr4:76911000-76912400	Active TSS	Gastric	stomach
33	chr4:76911000-76912400	Active TSS	Ovary	ovary
34	chr4:76911000-76912400	Active TSS	Pancreas	Pancrea
35	chr4:76911000-76912400	Active TSS	Thymus	Thymus
36	chr4:76911000-76912400	Active TSS	HSMMtube	muscle
37	chr4:76911000-76912600	Active TSS	HUES6 Cell Line	embryonic stem cell
38	chr4:76911000-76912600	Active TSS	HUES64 Cell Line	embryonic stem cell
39	chr4:76911000-76912600	Active TSS	iPS-15b Cell Line	embryonic stem cell
40	chr4:76911000-76912600	Active TSS	Muscle Satellite Cultured Cells	--
41	chr4:76911000-76912600	Active TSS	Aorta	Aorta
42	chr4:76911000-76912600	Active TSS	Fetal Thymus	thymus
43	chr4:76911000-76912600	Active TSS	Left Ventricle	heart
44	chr4:76911000-76912600	Active TSS	K562	blood
45	chr4:76911000-76912600	Active TSS	NHDF-Ad	bronchial
46	chr4:76911000-76912600	Active TSS	NHEK	skin
47	chr4:76911000-76912800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr4:76911000-76912800	Active TSS	Duodenum Smooth Muscle	Duodenum
49	chr4:76911000-76912800	Active TSS	Psoas Muscle	Psoas
50	chr4:76911000-76913000	Active TSS	ES-I3 Cell Line	embryonic stem cell

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