Variant report

Variant	rs2186723
Chromosome Location	chr11:87039961-87039962
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	POLR2A	chr11:87035892-87046208	K562	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000270510	TF binding region

Extended variants
information (count: 20 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10501635	0.87[CHB][hapmap]
rs1074356	0.80[ASN][1000 genomes]
rs10792947	0.82[ASN][1000 genomes]
rs10792948	0.82[ASN][1000 genomes]
rs10898670	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10898671	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10898672	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12282551	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12292705	1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[JPT][hapmap];0.80[MKK][hapmap];0.99[ASN][1000 genomes]
rs17149955	0.87[CHB][hapmap]
rs2186724	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34611035	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35841298	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4318005	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4480563	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4644661	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4944702	0.85[ASN][1000 genomes]

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	nsv1043562	chr11:86755535-87547185	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv541120	chr11:86755535-87547185	Bivalent Enhancer Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv1046288	chr11:86757573-87158571	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Strong transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2186723	PRSS23	cis	cerebellum	SCAN

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:87012000-87040400	Weak transcription	Fetal Intestine Small	intestine
2	chr11:87012800-87044200	Weak transcription	Brain Hippocampus Middle	brain
3	chr11:87014400-87047400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr11:87015800-87040800	Weak transcription	Left Ventricle	heart
5	chr11:87018000-87040000	Weak transcription	Aorta	Aorta
6	chr11:87018000-87042800	Weak transcription	Lung	lung
7	chr11:87018200-87040800	Weak transcription	Small Intestine	intestine
8	chr11:87021600-87042400	Weak transcription	HSMMtube	muscle
9	chr11:87022000-87040600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr11:87025400-87040800	Weak transcription	Stomach Smooth Muscle	stomach
11	chr11:87026400-87041000	Weak transcription	Colon Smooth Muscle	Colon
12	chr11:87027600-87043800	Weak transcription	Fetal Kidney	kidney
13	chr11:87028200-87041000	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr11:87028400-87040000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr11:87030400-87040200	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr11:87033000-87040400	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr11:87033200-87041400	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr11:87033400-87040200	Weak transcription	HepG2	liver
19	chr11:87033400-87040800	Weak transcription	Primary hematopoietic stem cells	blood
20	chr11:87033600-87041200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr11:87033600-87044200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr11:87033800-87040800	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr11:87033800-87042800	Weak transcription	Placenta	Placenta
24	chr11:87035000-87041800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr11:87036800-87040200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr11:87036800-87040600	Weak transcription	Adipose Nuclei	Adipose
27	chr11:87036800-87040800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr11:87036800-87046400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr11:87037400-87040600	Weak transcription	Fetal Muscle Leg	muscle
30	chr11:87037400-87042400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr11:87037600-87041200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr11:87038200-87040000	Weak transcription	Fetal Lung	lung
33	chr11:87038200-87040600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr11:87038800-87043600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr11:87039000-87040600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr11:87039200-87042400	Weak transcription	Primary T cells from cord blood	blood
37	chr11:87039200-87042600	Weak transcription	Liver	Liver
38	chr11:87039800-87041200	Enhancers	Fetal Stomach	stomach

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