Variant report

Variant	rs61264428
Chromosome Location	chr2:174021795-174021796
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	chr2:174016557..174018209-chr2:174020513..174022324,2	MCF-7	breast:

Extended variants
information (count: 28 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11680555	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11687539	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17710065	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17710437	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2043950	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2358088	0.92[ASN][1000 genomes]
rs3754739	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3769159	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3769162	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3769163	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3769173	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4399689	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4972532	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56980119	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs59500540	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62175824	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs722864	0.83[ASN][1000 genomes]
rs734993	0.88[ASN][1000 genomes]
rs73974105	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs746179	0.91[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs7567355	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7575319	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7601536	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs935006	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs935007	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][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	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
3	nsv834461	chr2:173979734-174038471	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs61264428	ZAK	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:174012800-174026600	Enhancers	Skeletal Muscle Female	skeletal muscle
2	chr2:174013400-174025400	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr2:174013600-174024600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr2:174015400-174027400	Weak transcription	Fetal Muscle Leg	muscle
5	chr2:174015400-174047000	Weak transcription	Rectal Smooth Muscle	rectum
6	chr2:174016200-174048800	Weak transcription	K562	blood
7	chr2:174016400-174028200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr2:174017000-174022400	Weak transcription	Primary neutrophils fromperipheralblood	blood
9	chr2:174017000-174022600	Weak transcription	Colon Smooth Muscle	Colon
10	chr2:174017200-174023800	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr2:174017200-174024000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr2:174017200-174024200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr2:174018000-174021800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr2:174018000-174024200	Weak transcription	Fetal Heart	heart
15	chr2:174018000-174025400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr2:174018400-174022400	Weak transcription	Hela-S3	cervix
17	chr2:174018400-174022600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr2:174018400-174024000	Weak transcription	Osteobl	bone
19	chr2:174018400-174024200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr2:174018600-174022200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr2:174018600-174022400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr2:174018600-174022400	Weak transcription	NHDF-Ad	bronchial
23	chr2:174018600-174023800	Weak transcription	NHLF	lung
24	chr2:174018600-174024200	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr2:174019800-174021800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr2:174020000-174022400	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr2:174021200-174021800	Enhancers	Psoas Muscle	Psoas
28	chr2:174021200-174022000	Enhancers	Right Ventricle	heart
29	chr2:174021200-174022400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr2:174021200-174022400	Weak transcription	HMEC	breast
31	chr2:174021200-174022600	Enhancers	Left Ventricle	heart
32	chr2:174021200-174024800	Weak transcription	Primary hematopoietic stem cells	blood
33	chr2:174021600-174021800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr2:174021600-174022400	Weak transcription	A549	lung
35	chr2:174021600-174022400	Weak transcription	NHEK	skin
36	chr2:174021600-174024200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr2:174021600-174024200	Weak transcription	Ovary	ovary
38	chr2:174021600-174025600	Weak transcription	Fetal Intestine Small	intestine
39	chr2:174021600-174027000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr2:174021600-174027800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr2:174021600-174030400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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