Variant report

Variant	rs7566372
Chromosome Location	chr2:174083171-174083172
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:174079336..174081370-chr2:174081399..174084609,3	MCF-7	breast:
2	chr2:174082835..174084549-chr2:174085627..174087746,2	K562	blood:
3	chr2:174082835..174085269-chr2:174086246..174090013,3	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10181133	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10182247	0.94[ASN][1000 genomes]
rs10198981	0.81[EUR][1000 genomes]
rs10497401	0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs11897681	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13034748	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13035366	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13313780	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13385996	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13430550	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13430650	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1371573	0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs16861404	0.94[ASN][1000 genomes]
rs1866634	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2358087	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28520717	0.81[ASN][1000 genomes]
rs3754740	0.97[ASN][1000 genomes]
rs3769165	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3769174	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3769177	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4972535	0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1011724	chr2:173916482-174231908	Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv834460	chr2:173919464-174085288	Strong transcription Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7566372	ZAK	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:174026600-174083200	Weak transcription	Esophagus	oesophagus
2	chr2:174048600-174095200	Weak transcription	Thymus	Thymus
3	chr2:174049200-174083200	Weak transcription	Small Intestine	intestine
4	chr2:174053400-174089800	Weak transcription	Pancreas	Pancrea
5	chr2:174058000-174112800	Weak transcription	Spleen	Spleen
6	chr2:174060200-174092600	Weak transcription	Aorta	Aorta
7	chr2:174061200-174097600	Weak transcription	Lung	lung
8	chr2:174061400-174092200	Weak transcription	Brain Substantia Nigra	brain
9	chr2:174061600-174083200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr2:174061600-174083200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:174063600-174097600	Weak transcription	HSMM	muscle
12	chr2:174063800-174083200	Weak transcription	GM12878-XiMat	blood
13	chr2:174063800-174095000	Weak transcription	Right Ventricle	heart
14	chr2:174064200-174083400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr2:174064200-174097600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr2:174064600-174083200	Weak transcription	Primary hematopoietic stem cells	blood
17	chr2:174069400-174097000	Weak transcription	Fetal Muscle Trunk	muscle
18	chr2:174069400-174097600	Weak transcription	Primary B cells from cord blood	blood
19	chr2:174069600-174096600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr2:174071800-174094200	Weak transcription	Fetal Thymus	thymus
21	chr2:174072200-174095400	Weak transcription	Right Atrium	heart
22	chr2:174075400-174097600	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr2:174076400-174083200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr2:174076400-174083200	Weak transcription	Dnd41	blood
25	chr2:174076400-174087800	Weak transcription	K562	blood
26	chr2:174076800-174085800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr2:174077000-174086000	Weak transcription	A549	lung
28	chr2:174077000-174091800	Weak transcription	Duodenum Mucosa	Duodenum
29	chr2:174077400-174096400	Weak transcription	Hela-S3	cervix
30	chr2:174078800-174091200	Weak transcription	Liver	Liver
31	chr2:174078800-174097800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr2:174079000-174083200	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr2:174079200-174083200	Weak transcription	Fetal Intestine Large	intestine
34	chr2:174079200-174085800	Weak transcription	Fetal Muscle Leg	muscle
35	chr2:174080800-174083200	Weak transcription	HMEC	breast
36	chr2:174080800-174085600	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr2:174081000-174083600	Weak transcription	Primary neutrophils fromperipheralblood	blood
38	chr2:174081400-174083200	Weak transcription	Primary monocytes fromperipheralblood	blood
39	chr2:174081400-174083200	Weak transcription	Monocytes-CD14+_RO01746	blood
40	chr2:174081600-174084200	Enhancers	HUES64 Cell Line	embryonic stem cell
41	chr2:174081600-174084600	Enhancers	Fetal Lung	lung
42	chr2:174081800-174083400	Enhancers	Fetal Brain Male	brain
43	chr2:174081800-174083800	Enhancers	iPS-15b Cell Line	embryonic stem cell
44	chr2:174081800-174083800	Enhancers	NHDF-Ad	bronchial
45	chr2:174082000-174083200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr2:174082000-174083200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr2:174082000-174083400	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr2:174082000-174083600	Enhancers	NHLF	lung
49	chr2:174082000-174083800	Enhancers	Osteobl	bone
50	chr2:174082000-174084000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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