Variant report

Variant	rs1458384
Chromosome Location	chr11:86177055-86177056
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:86175990..86178793-chr11:86191852..86194276,2	MCF-7	breast:
2	chr11:86171384..86173382-chr11:86174243..86177656,3	MCF-7	breast:
3	chr11:86175072..86177234-chr11:86208883..86211616,2	MCF-7	breast:
4	chr11:86176037..86178777-chr11:86179586..86181565,2	MCF-7	breast:
5	chr11:86174332..86177308-chr11:86177532..86180145,2	K562	blood:
6	chr11:86174318..86177254-chr11:86179008..86180936,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000151376	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11234662	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12224723	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12226269	1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.87[ASN][1000 genomes]
rs1542426	0.94[CHB][hapmap];0.91[CHD][hapmap];0.91[GIH][hapmap];0.89[JPT][hapmap];0.86[MEX][hapmap]
rs17159928	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1870323	0.92[CEU][hapmap];0.81[LWK][hapmap];0.83[TSI][hapmap]
rs4944586	0.88[CHB][hapmap];0.94[JPT][hapmap];0.80[ASN][1000 genomes]
rs7107136	1.00[CHB][hapmap];0.93[JPT][hapmap];0.89[ASN][1000 genomes]
rs7108710	0.86[ASN][1000 genomes]
rs7119485	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7122928	0.81[CHD][hapmap];0.82[MEX][hapmap]
rs7125366	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs748102	0.94[CHB][hapmap];0.95[CHD][hapmap];0.89[JPT][hapmap];0.82[ASN][1000 genomes]
rs767776	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7943741	0.88[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044081	chr11:86133641-86868560	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv541118	chr11:86133641-86868560	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv898056	chr11:86156848-86304402	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1458384	PRSS23	cis	parietal	SCAN

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:86153200-86187000	Weak transcription	Fetal Kidney	kidney
2	chr11:86157000-86179800	Weak transcription	Fetal Intestine Large	intestine
3	chr11:86158600-86187200	Weak transcription	Duodenum Mucosa	Duodenum
4	chr11:86159600-86196800	Weak transcription	Primary hematopoietic stem cells	blood
5	chr11:86160200-86221000	Weak transcription	Primary T cells from cord blood	blood
6	chr11:86169800-86178400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr11:86170200-86187200	Weak transcription	Stomach Mucosa	stomach
8	chr11:86171200-86197800	Weak transcription	Esophagus	oesophagus
9	chr11:86171600-86180400	Weak transcription	Gastric	stomach
10	chr11:86171800-86187200	Weak transcription	Rectal Smooth Muscle	rectum
11	chr11:86171800-86188800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr11:86172000-86180600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr11:86172200-86177400	Weak transcription	NHLF	lung
14	chr11:86172200-86180600	Weak transcription	Osteobl	bone
15	chr11:86172200-86181000	Weak transcription	NHDF-Ad	bronchial
16	chr11:86172200-86184800	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr11:86172200-86208200	Weak transcription	Pancreas	Pancrea
18	chr11:86172400-86179000	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr11:86172400-86183400	Weak transcription	Fetal Heart	heart
20	chr11:86172400-86192800	Weak transcription	Brain Anterior Caudate	brain
21	chr11:86172400-86208400	Weak transcription	Brain Angular Gyrus	brain
22	chr11:86172400-86227000	Weak transcription	Brain Cingulate Gyrus	brain
23	chr11:86172600-86180400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr11:86172600-86180600	Weak transcription	Fetal Lung	lung
25	chr11:86172600-86180800	Weak transcription	Right Ventricle	heart
26	chr11:86172600-86184600	Weak transcription	HSMM	muscle
27	chr11:86172600-86187200	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr11:86172600-86194800	Weak transcription	Brain Hippocampus Middle	brain
29	chr11:86172800-86179000	Weak transcription	Right Atrium	heart
30	chr11:86172800-86180400	Weak transcription	Fetal Muscle Leg	muscle
31	chr11:86172800-86180800	Weak transcription	Spleen	Spleen
32	chr11:86172800-86184800	Weak transcription	HUVEC	blood vessel
33	chr11:86172800-86188800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr11:86173400-86178200	Enhancers	HMEC	breast
35	chr11:86173600-86180600	Weak transcription	Small Intestine	intestine
36	chr11:86173800-86180200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr11:86174600-86177600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr11:86174600-86180600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr11:86174600-86181000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr11:86174600-86185000	Weak transcription	Lung	lung
41	chr11:86174600-86187200	Weak transcription	Fetal Intestine Small	intestine
42	chr11:86174600-86187200	Weak transcription	Fetal Stomach	stomach
43	chr11:86174600-86188800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr11:86174800-86180800	Weak transcription	Stomach Smooth Muscle	stomach
45	chr11:86174800-86185400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr11:86175400-86195400	Weak transcription	Brain Germinal Matrix	brain
47	chr11:86175600-86180200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr11:86175800-86180400	Weak transcription	Fetal Muscle Trunk	muscle
49	chr11:86175800-86184600	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr11:86176000-86184600	Weak transcription	Adipose Nuclei	Adipose

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