Variant report

Variant	rs7772112
Chromosome Location	chr6:167408896-167408897
allele	A/G
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	POLR2A	chr6:167408604-167409127	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
ENSG00000272980	TF binding region
FGFR1OP	TF binding region

Extended variants
information (count: 22 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1331301	0.81[ASN][1000 genomes]
rs162287	0.93[ASN][1000 genomes]
rs162289	0.87[YRI][hapmap];0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs162291	0.87[YRI][hapmap];0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs162293	0.87[YRI][hapmap];0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs162294	0.87[YRI][hapmap];0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs162295	0.85[YRI][hapmap];0.95[ASN][1000 genomes]
rs162297	0.85[YRI][hapmap];0.82[ASN][1000 genomes]
rs239931	0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs3756838	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs57444856	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62436424	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9366076	0.85[YRI][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv605260	chr6:166984094-167455139	Enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
2	nsv1019381	chr6:167090236-167558598	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
3	nsv538541	chr6:167090236-167558598	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
4	nsv948634	chr6:167200671-167838993	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	25 gene(s)	inside rSNPs	diseases
5	nsv482507	chr6:167282376-167474915	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
6	nsv532074	chr6:167320656-167781977	Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
7	nsv1031039	chr6:167324021-167741439	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	21 gene(s)	inside rSNPs	diseases
8	nsv538543	chr6:167324021-167741439	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	21 gene(s)	inside rSNPs	diseases
9	nsv1026972	chr6:167335031-167671042	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs7772112	AL133458.1	cis	Whole Blood	GTEx
rs7772112	AL133458.1	cis	lung	GTEx
rs7772112	RNASET2	cis	Esophagus Mucosa	GTEx
rs7772112	RNASET2	Cis_1M	lymphoblastoid	RTeQTL
rs7772112	RNASET2	cis	Whole Blood	GTEx
rs7772112	AL133458.1	cis	Esophagus Mucosa	GTEx

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:167371400-167411000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr6:167381200-167410000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr6:167381200-167411000	Weak transcription	Fetal Stomach	stomach
4	chr6:167382000-167411200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr6:167383200-167411200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr6:167383400-167411000	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr6:167384000-167410600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr6:167384000-167411000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr6:167384000-167411000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr6:167384400-167411000	Weak transcription	Fetal Muscle Leg	muscle
11	chr6:167384600-167409600	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr6:167385000-167411000	Weak transcription	Thymus	Thymus
13	chr6:167385400-167411000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr6:167386200-167409400	Weak transcription	Primary neutrophils fromperipheralblood	blood
15	chr6:167388800-167410600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr6:167389600-167411000	Weak transcription	NHLF	lung
17	chr6:167390600-167411200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr6:167390800-167411000	Weak transcription	Gastric	stomach
19	chr6:167392200-167411000	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr6:167392600-167410800	Weak transcription	HUVEC	blood vessel
21	chr6:167395200-167410200	Weak transcription	Fetal Lung	lung
22	chr6:167396800-167410800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr6:167398800-167411000	Weak transcription	Esophagus	oesophagus
24	chr6:167401800-167411000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr6:167402000-167410800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr6:167402200-167410600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr6:167402600-167410000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr6:167402600-167411000	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr6:167402600-167411000	Weak transcription	Fetal Intestine Small	intestine
30	chr6:167402600-167411200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr6:167402800-167410800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr6:167402800-167411000	Weak transcription	NHEK	skin
33	chr6:167403000-167410800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr6:167403000-167411000	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr6:167403000-167411000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr6:167403000-167411200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr6:167403200-167409800	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr6:167403200-167410800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr6:167403200-167411000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
40	chr6:167403200-167411000	Weak transcription	Brain Angular Gyrus	brain
41	chr6:167403200-167411000	Weak transcription	Brain Germinal Matrix	brain
42	chr6:167403400-167410600	Weak transcription	Primary B cells from cord blood	blood
43	chr6:167403600-167410800	Weak transcription	Primary B cells from peripheral blood	blood
44	chr6:167403600-167410800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr6:167403600-167410800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
46	chr6:167403600-167411000	Weak transcription	Primary T cells fromperipheralblood	blood
47	chr6:167403600-167411000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr6:167403800-167410600	Weak transcription	Primary T helper cells fromperipheralblood	blood
49	chr6:167403800-167410800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
50	chr6:167403800-167410800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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