Variant report

Variant	rs12417575
Chromosome Location	chr11:86154517-86154518
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:86150631..86153511-chr11:86154013..86155677,2	K562	blood:
2	chr11:86152679..86155183-chr11:86156191..86160903,4	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10792854	0.80[EUR][1000 genomes]
rs10898484	0.80[EUR][1000 genomes]
rs11234631	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11234632	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.89[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11826496	0.81[CHB][hapmap];0.81[JPT][hapmap];0.82[YRI][hapmap];0.82[ASN][1000 genomes]
rs3741004	0.84[CEU][hapmap]
rs3781812	0.81[GIH][hapmap]
rs4412777	0.81[CEU][hapmap]
rs4944580	0.80[EUR][1000 genomes]
rs6592295	0.80[EUR][1000 genomes]
rs7936278	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12417575	PRSS23	cis	parietal	SCAN

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:86136800-86170200	Weak transcription	Fetal Heart	heart
2	chr11:86138600-86167400	Weak transcription	Fetal Lung	lung
3	chr11:86140800-86155800	Weak transcription	Psoas Muscle	Psoas
4	chr11:86142000-86167400	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr11:86142600-86155000	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr11:86142600-86156000	Weak transcription	Spleen	Spleen
7	chr11:86142800-86157600	Weak transcription	Gastric	stomach
8	chr11:86145400-86167400	Weak transcription	Pancreas	Pancrea
9	chr11:86148200-86154600	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr11:86149400-86154800	Enhancers	NHDF-Ad	bronchial
11	chr11:86149800-86158600	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr11:86150200-86156200	Weak transcription	Colon Smooth Muscle	Colon
13	chr11:86150200-86158400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr11:86150200-86167400	Weak transcription	Stomach Mucosa	stomach
15	chr11:86150600-86155000	Strong transcription	Ovary	ovary
16	chr11:86150600-86159400	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr11:86151000-86155000	Strong transcription	Left Ventricle	heart
18	chr11:86151000-86159200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr11:86151200-86158600	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr11:86151200-86159800	Strong transcription	Fetal Brain Female	brain
21	chr11:86151200-86159800	Strong transcription	Fetal Stomach	stomach
22	chr11:86151400-86158400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr11:86151800-86154800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr11:86151800-86167400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr11:86151800-86167400	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr11:86152000-86154800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr11:86152000-86155000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr11:86152000-86158600	Strong transcription	Brain Germinal Matrix	brain
29	chr11:86152200-86154600	Strong transcription	Fetal Muscle Leg	muscle
30	chr11:86152200-86159400	Strong transcription	Adipose Nuclei	Adipose
31	chr11:86152400-86156400	Weak transcription	Brain Hippocampus Middle	brain
32	chr11:86152400-86164000	Weak transcription	Brain Substantia Nigra	brain
33	chr11:86152400-86172200	Weak transcription	Fetal Brain Male	brain
34	chr11:86152600-86158600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr11:86152600-86159600	Strong transcription	Stomach Smooth Muscle	stomach
36	chr11:86153000-86161200	Weak transcription	Colonic Mucosa	Colon
37	chr11:86153200-86154600	Enhancers	Hela-S3	cervix
38	chr11:86153200-86157200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
39	chr11:86153200-86159200	Weak transcription	Primary T cells from cord blood	blood
40	chr11:86153200-86187000	Weak transcription	Fetal Kidney	kidney
41	chr11:86153400-86154600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr11:86153400-86156200	Strong transcription	Brain Inferior Temporal Lobe	brain
43	chr11:86153400-86158000	Weak transcription	Duodenum Mucosa	Duodenum
44	chr11:86153400-86159400	Strong transcription	Right Ventricle	heart
45	chr11:86153600-86154600	Enhancers	HSMMtube	muscle
46	chr11:86153600-86154800	Enhancers	Placenta Amnion	Placenta Amnion
47	chr11:86153600-86155000	Strong transcription	Fetal Intestine Small	intestine
48	chr11:86153600-86155200	Enhancers	GM12878-XiMat	blood
49	chr11:86153600-86156200	Strong transcription	Brain Angular Gyrus	brain
50	chr11:86153600-86158600	Strong transcription	Primary hematopoietic stem cells	blood

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