Variant report

Variant	rs12184323
Chromosome Location	chr1:213087945-213087946
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:213087453..213089849-chr1:213098017..213100027,2	K562	blood:
2	chr1:212963885..212966841-chr1:213087848..213090181,3	K562	blood:

Variant related genes	Relation type
ENSG00000117697	Chromatin interaction
ENSG00000203705	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 17 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10864028	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10864029	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11120067	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11576299	0.89[AFR][1000 genomes]
rs11576311	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11582817	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11586314	0.87[AMR][1000 genomes]
rs11586464	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12140722	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12140754	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1284863	0.88[ASN][1000 genomes]
rs3816952	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3816953	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3816956	0.88[ASN][1000 genomes]
rs3816957	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4951474	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4951655	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6656128	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6656232	0.86[AMR][1000 genomes]
rs6670064	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6679848	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6679938	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6679951	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7523310	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7523329	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7533476	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7533575	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs870547	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs871767	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[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	nsv1008383	chr1:213025546-213114894	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	esv3437401	chr1:213082329-213088502	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	esv3337955	chr1:213083029-213088127	Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	esv3428295	chr1:213083029-213088127	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:17)

SNP	Gene	Cis/trans	Tissue	Source
rs12184323	FLVCR1-AS1	cis	Nerve Tibial	GTEx
rs12184323	LQK1	Cis_1M	lymphoblastoid	RTeQTL
rs12184323	FLVCR1-AS1	cis	lung	GTEx
rs12184323	FLVCR1-AS1	cis	Whole Blood	GTEx
rs12184323	FLVCR1-AS1	cis	Esophagus Mucosa	GTEx
rs12184323	FLVCR1-AS1	cis	Skin Sun Exposed Lower leg	GTEx
rs12184323	FLVCR1-AS1	cis	Thyroid	GTEx
rs12184323	FLVCR1-AS1	cis	Artery Aorta	GTEx
rs12184323	FLVCR1-AS1	cis	Artery Tibial	GTEx
rs12184323	FLVCR1-AS1	cis	Stomach	GTEx
rs12184323	FLVCR1-AS1	cis	Heart Left Ventricle	GTEx
rs12184323	FLVCR1-AS1	cis	Adipose Subcutaneous	GTEx
rs12184323	NSL1	Cis_1M	lymphoblastoid	RTeQTL
rs12184323	VASH2	Cis_1M	lymphoblastoid	RTeQTL
rs12184323	FLVCR1-AS1	cis	Muscle Skeletal	GTEx
rs12184323	FLVCR1-AS1	cis	Esophagus Muscularis	GTEx
rs12184323	FLVCR1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:213073800-213089000	Weak transcription	Pancreas	Pancrea
2	chr1:213079600-213090000	Weak transcription	Right Atrium	heart
3	chr1:213081600-213088000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr1:213083200-213088000	Active TSS	iPS-20b Cell Line	embryonic stem cell
5	chr1:213083200-213089000	Active TSS	H9 Cell Line	embryonic stem cell
6	chr1:213083400-213088000	Active TSS	iPS-18 Cell Line	embryonic stem cell
7	chr1:213084200-213088600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr1:213086200-213088000	Active TSS	H1 Cell Line	embryonic stem cell
9	chr1:213086400-213088000	Active TSS	ES-I3 Cell Line	embryonic stem cell
10	chr1:213086400-213088000	Active TSS	HUES48 Cell Line	embryonic stem cell
11	chr1:213086400-213088000	Active TSS	HUES6 Cell Line	embryonic stem cell
12	chr1:213086400-213088000	Active TSS	HUES64 Cell Line	embryonic stem cell
13	chr1:213086400-213088000	Active TSS	iPS-15b Cell Line	embryonic stem cell
14	chr1:213086800-213094400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr1:213087200-213088000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr1:213087200-213089800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr1:213087400-213088000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr1:213087800-213088600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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