Variant report

Variant	rs11120035
Chromosome Location	chr1:212998944-212998945
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	chr1:212782226..212783823-chr1:212998854..213001770,2	K562	blood:
2	chr1:212984776..212986773-chr1:212997927..213000551,2	K562	blood:

Variant related genes	Relation type
ENSG00000162772	Chromatin interaction

Extended variants
information (count: 66 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10127512	0.81[EUR][1000 genomes]
rs10127703	0.81[EUR][1000 genomes]
rs10127756	0.81[EUR][1000 genomes]
rs1046083	0.81[EUR][1000 genomes]
rs10863997	0.81[EUR][1000 genomes]
rs11120007	0.81[EUR][1000 genomes]
rs11120017	0.81[EUR][1000 genomes]
rs11120029	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11120030	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11120036	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11556187	0.82[EUR][1000 genomes]
rs11800642	0.81[EUR][1000 genomes]
rs11805669	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11806535	0.81[EUR][1000 genomes]
rs11809232	0.82[EUR][1000 genomes]
rs11809382	0.83[EUR][1000 genomes]
rs11811017	0.81[EUR][1000 genomes]
rs12036054	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12128410	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12129933	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12130072	1.00[ASN][1000 genomes]
rs12133124	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12136656	0.96[ASN][1000 genomes]
rs12137768	0.81[EUR][1000 genomes]
rs12409787	0.87[ASN][1000 genomes]
rs13376317	0.83[EUR][1000 genomes]
rs13376383	0.83[EUR][1000 genomes]
rs13376390	0.83[EUR][1000 genomes]
rs1507357	0.81[EUR][1000 genomes]
rs1532951	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17019726	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2358899	0.81[EUR][1000 genomes]
rs34110137	0.82[EUR][1000 genomes]
rs3738803	0.83[EUR][1000 genomes]
rs55840547	0.81[EUR][1000 genomes]
rs56088044	0.83[EUR][1000 genomes]
rs56243109	0.81[EUR][1000 genomes]
rs60308869	0.81[EUR][1000 genomes]
rs6540760	0.81[EUR][1000 genomes]
rs6670648	0.81[EUR][1000 genomes]
rs6671866	0.83[EUR][1000 genomes]
rs6687672	0.81[EUR][1000 genomes]
rs6688238	0.81[EUR][1000 genomes]
rs6694190	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6694448	0.81[EUR][1000 genomes]
rs73081853	0.81[EUR][1000 genomes]
rs73081902	0.81[EUR][1000 genomes]
rs73083707	0.80[EUR][1000 genomes]
rs73083727	0.83[EUR][1000 genomes]
rs73083731	0.83[EUR][1000 genomes]
rs73083749	0.81[EUR][1000 genomes]
rs73083756	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73083765	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73083778	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7515115	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7516312	0.81[EUR][1000 genomes]
rs7519582	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7538755	0.81[EUR][1000 genomes]
rs7548861	0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7552880	0.83[EUR][1000 genomes]
rs7552899	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001637	chr1:212907611-213034606	Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
2	esv2756884	chr1:212925429-213006397	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	esv2758997	chr1:212925429-213006397	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
4	nsv549149	chr1:212997385-213009657	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats	Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	n/a
5	nsv508691	chr1:212998319-213028392	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	n/a

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11120035	LQK1	Cis_1M	lymphoblastoid	RTeQTL
rs11120035	TATDN3	cis	Artery Tibial	GTEx

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212979600-213001000	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr1:212980800-213001000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr1:212994000-212999000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr1:212997200-213000200	ZNF genes & repeats	Fetal Intestine Small	intestine
5	chr1:212997400-212999600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr1:212998600-212999200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr1:212998600-212999400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
8	chr1:212998600-212999600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr1:212998600-212999600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr1:212998600-212999800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
11	chr1:212998600-212999800	ZNF genes & repeats	HepG2	liver
12	chr1:212998600-212999800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
13	chr1:212998800-212999800	ZNF genes & repeats	Adipose Nuclei	Adipose
14	chr1:212998800-212999800	ZNF genes & repeats	Stomach Mucosa	stomach

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