Variant report

Variant	rs9263699
Chromosome Location	chr6:31093699-31093700
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:31081982..31084650-chr6:31092935..31096389,3	MCF-7	breast:
2	chr6:31091407..31094366-chr6:31165370..31167054,2	MCF-7	breast:
3	chr6:31088197..31091806-chr6:31092941..31094886,3	K562	blood:
4	chr6:31085584..31087243-chr6:31091042..31093736,2	K562	blood:
5	chr6:31092622..31094378-chr6:31124404..31127254,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000137310	Chromatin interaction
ENSG00000204540	Chromatin interaction
ENSG00000204536	Chromatin interaction
ENSG00000204539	Chromatin interaction
ENSG00000206344	Chromatin interaction
ENSG00000272501	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 9 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs3815087	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3909109	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3909110	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6911408	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6931464	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6931633	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6932435	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9263701	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9263703	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9263715	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9263716	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9263717	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	nsv1015372	chr6:30704734-31582152	Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	334 gene(s)	inside rSNPs	diseases
5	nsv538173	chr6:30704734-31582152	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	334 gene(s)	inside rSNPs	diseases
6	nsv1029442	chr6:31006647-31449207	Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	82 gene(s)	inside rSNPs	diseases
7	nsv427750	chr6:31028290-31234581	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
8	nsv428140	chr6:31028290-31462106	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	89 gene(s)	inside rSNPs	diseases
9	esv2758042	chr6:31028290-31497106	Weak transcription Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	101 gene(s)	inside rSNPs	diseases
10	esv2759414	chr6:31028290-31542308	Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	151 gene(s)	inside rSNPs	diseases
11	nsv1033227	chr6:31071547-31101674	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
12	nsv525933	chr6:31081205-31142245	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
13	nsv884137	chr6:31082361-31129310	Weak transcription Active TSS Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
14	esv1797052	chr6:31083813-31095816	Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
15	esv1820685	chr6:31083813-31097453	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
16	esv1799829	chr6:31087133-31097183	Enhancers Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:9)

SNP	Gene	Cis/trans	Tissue	Source
rs9263699	PSORS1C1	cis	Artery Tibial	GTEx
rs9263699	PSORS1C1	cis	Thyroid	GTEx
rs9263699	PSORS1C2	cis	Artery Tibial	GTEx
rs9263699	PSORS1C1	cis	Adipose Subcutaneous	GTEx
rs9263699	PSORS1C2	cis	lung	GTEx
rs9263699	PSORS1C1	cis	lung	GTEx
rs9263699	PSORS1C2	cis	Thyroid	GTEx
rs9263699	PSORS1C1	cis	Skin Sun Exposed Lower leg	GTEx
rs9263699	PSORS1C1	cis	Nerve Tibial	GTEx

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:31083200-31094200	Weak transcription	Aorta	Aorta
2	chr6:31083200-31105400	Weak transcription	Spleen	Spleen
3	chr6:31088000-31094200	Enhancers	Placenta Amnion	Placenta Amnion
4	chr6:31088000-31094800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr6:31088000-31095000	Enhancers	HMEC	breast
6	chr6:31088200-31095000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr6:31089000-31096200	Enhancers	Lung	lung
8	chr6:31089600-31094800	Enhancers	NHEK	skin
9	chr6:31090000-31095800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr6:31090600-31094400	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr6:31091200-31093800	Enhancers	Colon Smooth Muscle	Colon
12	chr6:31091200-31094400	Weak transcription	Colonic Mucosa	Colon
13	chr6:31091200-31094400	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr6:31091200-31096000	Enhancers	Skeletal Muscle Male	skeletal muscle
15	chr6:31091400-31094000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr6:31091400-31094200	Weak transcription	Duodenum Mucosa	Duodenum
17	chr6:31091600-31094400	Enhancers	Fetal Muscle Trunk	muscle
18	chr6:31092200-31094000	Enhancers	Duodenum Smooth Muscle	Duodenum
19	chr6:31092200-31094000	Enhancers	NH-A	brain
20	chr6:31092200-31095200	Enhancers	Fetal Muscle Leg	muscle
21	chr6:31092400-31094800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr6:31092600-31094200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr6:31092600-31096000	Enhancers	Stomach Mucosa	stomach
24	chr6:31092800-31093800	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr6:31092800-31093800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr6:31092800-31094000	Enhancers	Primary hematopoietic stem cells short term culture	blood
27	chr6:31092800-31094000	Enhancers	Fetal Thymus	thymus
28	chr6:31092800-31094200	Enhancers	A549	lung
29	chr6:31092800-31094200	Enhancers	Hela-S3	cervix
30	chr6:31092800-31094400	Enhancers	Muscle Satellite Cultured Cells	--
31	chr6:31092800-31094600	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr6:31092800-31094600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr6:31092800-31094600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr6:31092800-31094600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr6:31092800-31095000	Enhancers	Left Ventricle	heart
36	chr6:31092800-31095200	Enhancers	Adipose Nuclei	Adipose
37	chr6:31092800-31095200	Enhancers	HSMM	muscle
38	chr6:31093000-31093800	Enhancers	H1 Cell Line	embryonic stem cell
39	chr6:31093000-31093800	Flanking Active TSS	Osteobl	bone
40	chr6:31093000-31094000	Enhancers	Pancreas	Pancrea
41	chr6:31093000-31094400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr6:31093000-31095000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
43	chr6:31093000-31096000	Enhancers	Gastric	stomach
44	chr6:31093000-31096000	Enhancers	Right Atrium	heart
45	chr6:31093000-31096000	Enhancers	Right Ventricle	heart
46	chr6:31093200-31093800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
47	chr6:31093200-31094600	Bivalent Enhancer	NHLF	lung
48	chr6:31093200-31094800	Enhancers	Esophagus	oesophagus
49	chr6:31093200-31094800	Enhancers	NHDF-Ad	bronchial
50	chr6:31093200-31096600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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