Variant report

Variant	rs9366076
Chromosome Location	chr6:167373708-167373709
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	MAZ	chr6:167373581-167373720	GM12878	blood:	n/a	n/a
2	FOS	chr6:167373484-167373836	HUVEC	blood vessel:	n/a	chr6:167373567-167373581
3	POLR2A	chr6:167373611-167373749	HepG2	liver:	n/a	n/a
4	MTA3	chr6:167372216-167373825	GM12878	blood:	n/a	n/a
5	POLR2A	chr6:167373648-167373765	HUVEC	blood vessel:	n/a	n/a
6	POLR2A	chr6:167368758-167373878	GM12891	blood:	n/a	n/a
7	HEY1	chr6:167368760-167373820	HepG2	liver:	n/a	chr6:167369448-167369463 chr6:167369857-167369872 chr6:167369766-167369781
8	POLR2A	chr6:167372423-167374746	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:167372682..167375031-chr6:167410586..167412884,3	K562	blood:
2	chr6:167367121..167370566-chr6:167371148..167375087,4	K562	blood:
3	chr6:167372022..167374249-chr6:167383520..167385172,2	K562	blood:
4	chr6:167370784..167372453-chr6:167373625..167375404,2	K562	blood:

Variant related genes	Relation type
ENSG00000249141	TF binding region
RNASET2	TF binding region
ENSG00000026297	Chromatin interaction
ENSG00000249141	Chromatin interaction
ENSG00000265828	Chromatin interaction
ENSG00000213066	Chromatin interaction
ENSG00000227598	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1012656	0.81[CHB][hapmap]
rs1012657	0.82[CHB][hapmap]
rs1079145	0.89[CHD][hapmap];0.83[JPT][hapmap]
rs1556413	0.82[CHB][hapmap]
rs162289	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs162291	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs162293	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs162294	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs162295	0.91[CHB][hapmap];0.95[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.82[MKK][hapmap];1.00[YRI][hapmap]
rs162297	0.83[CHB][hapmap];0.81[CHD][hapmap];0.90[GIH][hapmap];0.95[JPT][hapmap];0.87[MEX][hapmap];0.85[MKK][hapmap];1.00[YRI][hapmap]
rs2023305	0.81[CHB][hapmap]
rs2236312	0.89[CHD][hapmap];0.83[JPT][hapmap];0.87[MEX][hapmap]
rs239931	0.81[ASN][1000 genomes]
rs3756838	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3798307	0.83[JPT][hapmap];0.87[MEX][hapmap]
rs57444856	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62436424	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7772112	0.85[YRI][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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
10	nsv1034359	chr6:167359643-167384714	Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs9366076	AL133458.1	cis	Whole Blood	GTEx
rs9366076	AL133458.1	cis	lung	GTEx
rs9366076	RNASET2	Cis_1M	lymphoblastoid	RTeQTL
rs9366076	RNASET2	cis	cerebellum	SCAN
rs9366076	RNASET2	cis	Whole Blood	GTEx
rs9366076	AL133458.1	cis	Esophagus Mucosa	GTEx

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:167370200-167373800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
2	chr6:167371000-167373800	Enhancers	Spleen	Spleen
3	chr6:167371200-167374400	Enhancers	Stomach Mucosa	stomach
4	chr6:167371400-167373800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr6:167371400-167374400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
6	chr6:167371400-167374400	Weak transcription	Fetal Intestine Small	intestine
7	chr6:167371400-167411000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr6:167372200-167373800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
9	chr6:167372200-167373800	Flanking Active TSS	HepG2	liver
10	chr6:167372400-167373800	Enhancers	Skeletal Muscle Female	skeletal muscle
11	chr6:167372400-167373800	Flanking Active TSS	GM12878-XiMat	blood
12	chr6:167372400-167374200	Enhancers	HUVEC	blood vessel
13	chr6:167372800-167373800	Enhancers	Primary hematopoietic stem cells	blood
14	chr6:167373000-167373800	Enhancers	Fetal Muscle Leg	muscle
15	chr6:167373000-167374200	Enhancers	Gastric	stomach
16	chr6:167373000-167375000	Enhancers	Primary T cells fromperipheralblood	blood
17	chr6:167373200-167373800	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr6:167373200-167373800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
19	chr6:167373200-167373800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
20	chr6:167373200-167373800	Enhancers	Brain Hippocampus Middle	brain
21	chr6:167373200-167374000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr6:167373200-167374000	Enhancers	Fetal Thymus	thymus
23	chr6:167373200-167374400	Enhancers	Primary T helper cells fromperipheralblood	blood
24	chr6:167373200-167374400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
25	chr6:167373200-167374600	Enhancers	Primary T cells from cord blood	blood
26	chr6:167373200-167375200	Enhancers	Primary B cells from peripheral blood	blood
27	chr6:167373400-167373800	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr6:167373400-167373800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr6:167373400-167373800	Enhancers	Primary T killer memory cells from peripheral blood	blood
30	chr6:167373400-167373800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
31	chr6:167373400-167373800	Enhancers	Fetal Kidney	kidney
32	chr6:167373400-167373800	Enhancers	Dnd41	blood
33	chr6:167373400-167374200	Enhancers	Primary monocytes fromperipheralblood	blood
34	chr6:167373400-167374200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
35	chr6:167373400-167374400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
36	chr6:167373400-167374400	Enhancers	Primary T helper naive cells from peripheral blood	blood
37	chr6:167373600-167374400	Enhancers	Monocytes-CD14+_RO01746	blood
38	chr6:167373600-167374600	Enhancers	Primary B cells from cord blood	blood
39	chr6:167373600-167374600	Enhancers	Primary T helper cells PMA-I stimulated	--
40	chr6:167373600-167375600	Weak transcription	Osteobl	bone
41	chr6:167373600-167402400	Weak transcription	Liver	Liver

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