Variant report

Variant	rs60121307
Chromosome Location	chr2:173910468-173910469
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:173908637..173910994-chr2:174830078..174831720,2	MCF-7	breast:
2	chr2:173908929..173910664-chr2:173926220..173928176,2	K562	blood:
3	chr2:173885808..173888407-chr2:173907815..173910951,3	MCF-7	breast:
4	chr2:173907898..173920360-chr2:173936226..173946823,30	MCF-7	breast:
5	chr13:29291574..29294456-chr2:173907850..173910644,2	MCF-7	breast:
6	chr2:173903690..173905721-chr2:173909979..173911933,2	K562	blood:
7	chr2:173895149..173898676-chr2:173907706..173911844,6	MCF-7	breast:
8	chr2:173905270..173911343-chr2:173911871..173916630,12	MCF-7	breast:
9	chr2:173909580..173911400-chr2:173932850..173935097,2	MCF-7	breast:
10	chr2:173907933..173910689-chr2:173917476..173919133,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000091436	Chromatin interaction
ENSG00000172845	Chromatin interaction
ENSG00000139508	Chromatin interaction
ENSG00000265709	Chromatin interaction
ENSG00000091428	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1020599	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10497403	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12464956	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12474338	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12474484	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1551248	0.81[ASN][1000 genomes]
rs1551249	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1973037	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2012213	0.88[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs3769211	0.81[EUR][1000 genomes]
rs3769213	0.99[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6717489	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6717529	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6717735	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6742219	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834459	chr2:173735192-173926750	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs60121307	ZAK	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173881200-173912800	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr2:173893000-173913200	Weak transcription	Brain Cingulate Gyrus	brain
3	chr2:173893200-173922000	Weak transcription	Brain Anterior Caudate	brain
4	chr2:173901000-173918000	Weak transcription	Brain Angular Gyrus	brain
5	chr2:173904400-173921400	Weak transcription	Ovary	ovary
6	chr2:173904600-173913000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr2:173906800-173912800	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr2:173906800-173913000	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr2:173908000-173910600	Enhancers	Rectal Smooth Muscle	rectum
10	chr2:173908400-173910600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr2:173908400-173910600	Enhancers	NHLF	lung
12	chr2:173908600-173916800	Enhancers	Fetal Intestine Large	intestine
13	chr2:173908600-173921400	Weak transcription	Left Ventricle	heart
14	chr2:173908800-173911200	Weak transcription	Fetal Heart	heart
15	chr2:173908800-173912800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr2:173908800-173912800	Weak transcription	Stomach Mucosa	stomach
17	chr2:173908800-173914400	Weak transcription	Liver	Liver
18	chr2:173908800-173924200	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr2:173909000-173912800	Weak transcription	Monocytes-CD14+_RO01746	blood
20	chr2:173909000-173916800	Enhancers	Fetal Intestine Small	intestine
21	chr2:173909200-173910600	Enhancers	Fetal Lung	lung
22	chr2:173909400-173912800	Weak transcription	Primary monocytes fromperipheralblood	blood
23	chr2:173909600-173912800	Enhancers	A549	lung
24	chr2:173909800-173910600	Enhancers	Fetal Kidney	kidney
25	chr2:173909800-173912200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr2:173909800-173915000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr2:173909800-173915200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr2:173910000-173912600	Weak transcription	HMEC	breast
29	chr2:173910000-173912800	Weak transcription	Duodenum Mucosa	Duodenum
30	chr2:173910200-173910600	Enhancers	Pancreas	Pancrea
31	chr2:173910200-173910800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr2:173910200-173911600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr2:173910200-173913000	Weak transcription	Colon Smooth Muscle	Colon
34	chr2:173910400-173910800	Enhancers	Small Intestine	intestine
35	chr2:173910400-173913000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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