Variant report

Variant	rs7768140
Chromosome Location	chr6:30488203-30488204
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:30482331..30485529-chr6:30485801..30488239,4	MCF-7	breast:
2	chr6:30486196..30489557-chr6:30583220..30586473,3	MCF-7	breast:
3	chr6:30482846..30485548-chr6:30486423..30490763,6	MCF-7	breast:
4	chr6:30456400..30459187-chr6:30486953..30490671,4	MCF-7	breast:
5	chr6:30485774..30489692-chr6:30522230..30524813,4	MCF-7	breast:
6	chr6:30486362..30488981-chr6:30524366..30525900,2	K562	blood:

Variant related genes	Relation type
ENSG00000204590	Chromatin interaction
ENSG00000204569	Chromatin interaction
ENSG00000204568	Chromatin interaction
ENSG00000235781	Chromatin interaction
ENSG00000204576	Chromatin interaction
ENSG00000222894	Chromatin interaction
ENSG00000204592	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs17189120	0.83[AFR][1000 genomes]
rs17195376	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs17195411	1.00[AFR][1000 genomes]
rs2394387	0.81[AFR][1000 genomes]
rs2394388	0.90[AFR][1000 genomes]
rs2394389	0.90[AFR][1000 genomes]
rs3815101	1.00[AFR][1000 genomes]
rs4148247	1.00[AFR][1000 genomes]
rs58423891	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs58569354	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60081418	1.00[AFR][1000 genomes]
rs61134417	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6899769	0.83[AFR][1000 genomes]
rs6917434	0.83[AFR][1000 genomes]
rs6918007	0.87[AFR][1000 genomes]
rs6934466	0.83[AFR][1000 genomes]
rs7742754	0.83[AFR][1000 genomes]
rs7746096	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7749109	0.83[AFR][1000 genomes]
rs7749807	0.83[AFR][1000 genomes]
rs7749978	0.83[AFR][1000 genomes]
rs7767714	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9283	0.91[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs9671	0.83[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025667	chr6:30292845-30638066	Flanking Active TSS Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	825 gene(s)	inside rSNPs	diseases
2	esv3519970	chr6:30382942-31378788	Genic enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1030 gene(s)	inside rSNPs	diseases
3	esv3519971	chr6:30382942-31378788	Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1030 gene(s)	inside rSNPs	diseases
4	nsv601481	chr6:30422632-31284253	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1012 gene(s)	inside rSNPs	diseases
5	nsv884077	chr6:30434900-30512163	Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
6	esv3430377	chr6:30443802-30814426	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	967 gene(s)	inside rSNPs	diseases
7	nsv884086	chr6:30462084-30672757	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	798 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7768140	PRR3	cis	lymphoblastoid	seeQTL

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:30484400-30488600	Weak transcription	Colonic Mucosa	Colon
2	chr6:30484400-30488800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
3	chr6:30484600-30488800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr6:30484600-30488800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr6:30484600-30489400	Enhancers	Primary T cells fromperipheralblood	blood
6	chr6:30484800-30488400	Weak transcription	Osteobl	bone
7	chr6:30484800-30488600	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr6:30484800-30495200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr6:30485000-30489400	Enhancers	Primary T cells from cord blood	blood
10	chr6:30485800-30488400	Weak transcription	Lung	lung
11	chr6:30486000-30500000	Weak transcription	Thymus	Thymus
12	chr6:30486600-30492400	Weak transcription	Primary B cells from peripheral blood	blood
13	chr6:30486800-30488400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
14	chr6:30486800-30489400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
15	chr6:30486800-30490000	Weak transcription	Primary neutrophils fromperipheralblood	blood
16	chr6:30487000-30488400	Enhancers	Primary T helper naive cells from peripheral blood	blood
17	chr6:30487000-30489400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr6:30487200-30490800	Enhancers	Primary T helper cells PMA-I stimulated	--
19	chr6:30487600-30488600	ZNF genes & repeats	Fetal Thymus	thymus
20	chr6:30487600-30488600	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr6:30487600-30489200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr6:30487600-30489400	Enhancers	Colon Smooth Muscle	Colon
23	chr6:30487800-30488800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr6:30487800-30489200	Enhancers	Placenta Amnion	Placenta Amnion
25	chr6:30487800-30489200	Enhancers	Rectal Smooth Muscle	rectum
26	chr6:30487800-30489400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr6:30487800-30489400	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr6:30487800-30489400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr6:30487800-30489400	Enhancers	HMEC	breast
30	chr6:30487800-30490000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr6:30488000-30489400	Enhancers	Placenta	Placenta
32	chr6:30488200-30488400	Enhancers	Primary T killer memory cells from peripheral blood	blood
33	chr6:30488200-30488400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr6:30488200-30488400	Enhancers	Esophagus	oesophagus
35	chr6:30488200-30488600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr6:30488200-30488600	Weak transcription	HUVEC	blood vessel
37	chr6:30488200-30489000	Enhancers	HepG2	liver
38	chr6:30488200-30489000	Flanking Active TSS	NHEK	skin
39	chr6:30488200-30489400	Enhancers	Rectal Mucosa Donor 31	rectum
40	chr6:30488200-30489400	Enhancers	Sigmoid Colon	Sigmoid Colon
41	chr6:30488200-30489400	Enhancers	Stomach Mucosa	stomach
42	chr6:30488200-30495600	Weak transcription	Primary T helper cells fromperipheralblood	blood

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