Variant report

Variant	rs611730
Chromosome Location	chr11:86208420-86208421
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs1056194	0.82[MEX][hapmap]
rs11234691	0.85[CHB][hapmap]
rs2446224	0.85[CHB][hapmap]
rs2446225	0.95[CEU][hapmap];0.90[CHB][hapmap];0.82[JPT][hapmap];0.87[ASN][1000 genomes]
rs2446230	0.96[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.84[GIH][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2511082	0.85[CHB][hapmap];0.95[CHD][hapmap]
rs2511083	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4944575	0.82[MEX][hapmap]
rs4944580	0.82[MEX][hapmap]
rs4944588	0.86[ASN][1000 genomes]
rs579719	1.00[CHB][hapmap];0.85[ASN][1000 genomes]
rs582282	1.00[CHB][hapmap];0.97[CHD][hapmap];0.87[ASN][1000 genomes]
rs583594	0.90[CHB][hapmap];0.90[JPT][hapmap];0.87[ASN][1000 genomes]
rs584953	0.96[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs587362	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs590750	0.86[ASN][1000 genomes]
rs601646	0.92[CEU][hapmap];0.90[CHB][hapmap];0.95[CHD][hapmap];0.91[MEX][hapmap];0.81[TSI][hapmap]
rs610790	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs614995	0.96[CEU][hapmap];0.90[CHB][hapmap];0.97[CHD][hapmap];0.88[GIH][hapmap];0.95[JPT][hapmap];0.91[MEX][hapmap];0.87[TSI][hapmap];0.87[ASN][1000 genomes]
rs616794	0.92[CEU][hapmap];0.95[CHB][hapmap];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs620054	0.84[ASN][1000 genomes]
rs630454	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs631082	0.91[CEU][hapmap];0.90[CHB][hapmap]
rs632873	0.92[CEU][hapmap];0.90[CHB][hapmap];0.80[ASN][1000 genomes]
rs633708	0.88[ASN][1000 genomes]
rs638492	1.00[CHB][hapmap];0.97[CHD][hapmap];0.92[ASN][1000 genomes]
rs641541	0.96[CEU][hapmap];1.00[CHB][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs643414	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs647561	0.92[CEU][hapmap];0.90[CHB][hapmap]
rs653715	0.94[CHB][hapmap];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs658324	1.00[CHB][hapmap];0.87[ASN][1000 genomes]
rs660372	0.96[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.84[GIH][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs661163	0.96[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs661328	0.80[ASN][1000 genomes]
rs663208	0.91[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];0.95[MEX][hapmap];0.84[TSI][hapmap];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs664613	0.92[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];0.91[MEX][hapmap];0.84[TSI][hapmap];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs669325	0.90[CHB][hapmap];1.00[CHD][hapmap];0.82[MEX][hapmap];0.86[TSI][hapmap];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs675775	0.85[CHB][hapmap];0.89[CHD][hapmap]
rs676106	0.92[CEU][hapmap];0.90[CHB][hapmap];0.82[ASN][1000 genomes]
rs677301	1.00[CHB][hapmap];0.87[ASN][1000 genomes]
rs677643	0.92[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];0.91[MEX][hapmap];0.84[TSI][hapmap];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs679977	0.96[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs681333	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs683899	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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
4	esv274960	chr11:86207030-86209556	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs611730	PRSS23	cis	parietal	SCAN

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:86160200-86221000	Weak transcription	Primary T cells from cord blood	blood
2	chr11:86172400-86227000	Weak transcription	Brain Cingulate Gyrus	brain
3	chr11:86181800-86208800	Weak transcription	Gastric	stomach
4	chr11:86187600-86218600	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr11:86188000-86210400	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr11:86189200-86222600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr11:86189600-86221600	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr11:86193400-86208600	Weak transcription	Brain Anterior Caudate	brain
9	chr11:86195200-86222200	Weak transcription	Rectal Smooth Muscle	rectum
10	chr11:86196000-86208800	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr11:86196200-86213600	Weak transcription	Brain Germinal Matrix	brain
12	chr11:86197600-86208800	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr11:86198000-86211000	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr11:86198200-86210600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr11:86198600-86222800	Weak transcription	Esophagus	oesophagus
16	chr11:86201400-86210000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr11:86202400-86210000	Weak transcription	Fetal Intestine Large	intestine
18	chr11:86202800-86226400	Weak transcription	Fetal Lung	lung
19	chr11:86203200-86208600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr11:86204000-86209400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr11:86204000-86222200	Weak transcription	Colon Smooth Muscle	Colon
22	chr11:86204200-86210800	Weak transcription	Fetal Heart	heart
23	chr11:86204400-86208600	Weak transcription	Aorta	Aorta
24	chr11:86204600-86208600	Weak transcription	Fetal Muscle Trunk	muscle
25	chr11:86204600-86220000	Weak transcription	Colonic Mucosa	Colon
26	chr11:86204800-86209200	Weak transcription	Left Ventricle	heart
27	chr11:86206200-86209000	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr11:86206400-86208600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr11:86206600-86210200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr11:86206600-86210600	Weak transcription	Primary hematopoietic stem cells	blood
31	chr11:86206800-86214200	Weak transcription	Fetal Muscle Leg	muscle
32	chr11:86206800-86214600	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr11:86206800-86214800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr11:86207000-86208600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr11:86207000-86213400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr11:86207400-86208600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr11:86207400-86209400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr11:86207800-86208800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr11:86207800-86209400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr11:86207800-86209800	Strong transcription	Stomach Smooth Muscle	stomach
41	chr11:86208000-86209000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr11:86208000-86209000	Enhancers	NHEK	skin
43	chr11:86208000-86209200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr11:86208000-86209200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr11:86208000-86209200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr11:86208000-86209200	Enhancers	Placenta Amnion	Placenta Amnion
47	chr11:86208000-86209200	Enhancers	HMEC	breast
48	chr11:86208000-86209400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr11:86208000-86209600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr11:86208000-86209600	Enhancers	Placenta	Placenta

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