Variant report

Variant	rs2918322
Chromosome Location	chr19:36737736-36737737
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ESR1	chr19:36737496-36737772	T-47D	breast:	n/a	chr19:36737666-36737681

Variant related genes	Relation type
ZNF565	TF binding region

Extended variants
information (count: 56 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10416729	0.93[ASN][1000 genomes]
rs11673662	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12460237	0.83[ASN][1000 genomes]
rs12608941	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1898675	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2432040	0.87[ASN][1000 genomes]
rs2432044	0.89[ASN][1000 genomes]
rs2432046	0.93[ASN][1000 genomes]
rs2432048	0.93[ASN][1000 genomes]
rs2432050	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2432053	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2438515	0.86[ASN][1000 genomes]
rs2438516	0.92[ASN][1000 genomes]
rs2910681	0.93[ASN][1000 genomes]
rs2918323	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2918324	0.91[ASN][1000 genomes]
rs2918325	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2918326	0.81[EUR][1000 genomes]
rs2918328	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2918329	0.85[ASN][1000 genomes]
rs2918331	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2918334	0.82[AMR][1000 genomes]
rs2918355	0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2918356	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2918358	0.82[AMR][1000 genomes]
rs2918376	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2918377	0.93[ASN][1000 genomes]
rs2918381	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2918382	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2918383	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2918384	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2972320	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2972528	0.85[ASN][1000 genomes]
rs2972530	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2972532	0.90[ASN][1000 genomes]
rs2972533	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2972534	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2972535	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2972536	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2972540	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2972543	0.80[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2972548	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2972550	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2972551	0.87[AMR][1000 genomes]
rs34912665	0.81[ASN][1000 genomes]
rs4293497	0.90[ASN][1000 genomes]
rs4315447	0.80[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs4805169	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs4805170	0.85[ASN][1000 genomes]
rs4806289	0.85[ASN][1000 genomes]
rs7254149	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs9797716	0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3526489	chr19:36306483-36741945	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
2	esv3526490	chr19:36306483-36741945	Genic enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
3	nsv520020	chr19:36721368-36822594	Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv9715	chr19:36729688-36811749	Weak transcription Active TSS Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2918322	ZNF545	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:36730400-36748400	Weak transcription	HSMMtube	muscle
2	chr19:36734600-36737800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr19:36735800-36737800	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
4	chr19:36736000-36737800	ZNF genes & repeats	Liver	Liver
5	chr19:36736200-36746200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr19:36736600-36738800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr19:36736600-36739200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr19:36736800-36738000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
9	chr19:36736800-36738000	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr19:36737000-36737800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
11	chr19:36737200-36737800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr19:36737200-36738000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr19:36737200-36739400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr19:36737400-36737800	Bivalent Enhancer	Colon Smooth Muscle	Colon
15	chr19:36737400-36739600	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr19:36737400-36747800	Weak transcription	Brain Anterior Caudate	brain
17	chr19:36737400-36747800	Weak transcription	Brain Substantia Nigra	brain
18	chr19:36737400-36748000	Weak transcription	Ovary	ovary
19	chr19:36737600-36738000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
20	chr19:36737600-36738000	Enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr19:36737600-36738200	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr19:36737600-36745400	Weak transcription	Pancreas	Pancrea
23	chr19:36737600-36746000	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr19:36737600-36746200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr19:36737600-36747800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr19:36737600-36747800	Weak transcription	Brain Cingulate Gyrus	brain
27	chr19:36737600-36747800	Weak transcription	Brain Hippocampus Middle	brain

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