Variant report

Variant	rs13430550
Chromosome Location	chr2:174046507-174046508
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

rs_ID	r²[population]
rs10181133	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10182247	0.97[ASN][1000 genomes]
rs10198981	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10497401	0.97[ASN][1000 genomes]
rs11897681	0.86[AFR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13034748	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13035366	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13313780	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13385996	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13430650	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1371573	0.97[ASN][1000 genomes]
rs16861404	0.97[ASN][1000 genomes]
rs1866634	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2358087	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28520717	0.83[ASN][1000 genomes]
rs3754740	1.00[ASN][1000 genomes]
rs3769165	0.98[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs3769174	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3769177	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4972535	0.85[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs7566372	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][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
rs13430550	ZAK	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:174015400-174047000	Weak transcription	Rectal Smooth Muscle	rectum
2	chr2:174016200-174048800	Weak transcription	K562	blood
3	chr2:174026000-174069000	Weak transcription	Primary B cells from cord blood	blood
4	chr2:174026400-174047600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr2:174026600-174048800	Weak transcription	Liver	Liver
6	chr2:174026600-174083200	Weak transcription	Esophagus	oesophagus
7	chr2:174028400-174054600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr2:174030000-174052200	Weak transcription	Fetal Lung	lung
9	chr2:174031200-174046600	Weak transcription	Colon Smooth Muscle	Colon
10	chr2:174032400-174048800	Weak transcription	Dnd41	blood
11	chr2:174037000-174047600	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr2:174037000-174053000	Weak transcription	Right Atrium	heart
13	chr2:174037200-174048400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr2:174037400-174047600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr2:174037400-174048800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr2:174037400-174048800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr2:174037400-174048800	Weak transcription	NHEK	skin
18	chr2:174037400-174054600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr2:174037800-174046600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr2:174038200-174049000	Weak transcription	Left Ventricle	heart
21	chr2:174040400-174046800	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr2:174045400-174052800	Weak transcription	Adipose Nuclei	Adipose
23	chr2:174045600-174047600	Weak transcription	Primary monocytes fromperipheralblood	blood
24	chr2:174045600-174048800	Weak transcription	HSMM	muscle
25	chr2:174046200-174047600	Weak transcription	A549	lung
26	chr2:174046200-174054200	Weak transcription	Fetal Muscle Trunk	muscle
27	chr2:174046200-174054400	Weak transcription	Primary hematopoietic stem cells	blood
28	chr2:174046200-174055800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr2:174046400-174048600	Weak transcription	Fetal Intestine Large	intestine
30	chr2:174046400-174049400	Weak transcription	Psoas Muscle	Psoas
31	chr2:174046400-174075800	Weak transcription	Duodenum Mucosa	Duodenum

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