Variant report

Variant	rs2125362
Chromosome Location	chr11:86167136-86167137
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:86166966..86167707-chr11:86198697..86199325,2	MCF-7	breast:
2	chr11:86166964..86167689-chr11:86529220..86530159,2	MCF-7	breast:
3	chr11:86166836..86167387-chr11:87001058..87001771,2	K562	blood:
4	chr11:86166895..86167729-chr11:86320988..86321978,2	MCF-7	breast:
5	chr11:86166713..86167839-chr11:86528876..86530191,9	MCF-7	breast:
6	chr11:86165887..86167902-chr11:86340779..86343642,2	MCF-7	breast:
7	chr11:86166825..86167806-chr11:86282278..86283302,7	K562	blood:
8	chr11:86166748..86168316-chr11:86282275..86283346,25	MCF-7	breast:
9	chr11:86166796..86167792-chr11:86318880..86319916,3	MCF-7	breast:
10	chr11:86165943..86168698-chr11:86319331..86321067,2	MCF-7	breast:
11	chr11:86165495..86167878-chr11:86266316..86268174,2	MCF-7	breast:
12	chr11:86160987..86162784-chr11:86164808..86167702,2	MCF-7	breast:
13	chr11:86166955..86167789-chr11:86318883..86320001,8	MCF-7	breast:
14	chr11:85565620..85566225-chr11:86166860..86167816,3	K562	blood:
15	chr11:86165050..86167177-chr11:86200288..86202010,2	K562	blood:
16	chr11:86107626..86109669-chr11:86164966..86167239,2	K562	blood:
17	chr11:86166851..86167817-chr11:86282247..86283482,8	MCF-7	breast:
18	chr11:86166854..86168088-chr11:86529201..86530237,9	K562	blood:
19	chr11:86166230..86170690-chr11:86512399..86515625,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000150676	Chromatin interaction
ENSG00000215504	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1056194	1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.83[MKK][hapmap];0.82[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs10792854	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs10898483	0.89[CHD][hapmap]
rs10898484	0.86[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs11601917	0.87[ASN][1000 genomes]
rs1563682	1.00[CHB][hapmap];0.97[CHD][hapmap];0.94[ASN][1000 genomes]
rs2125363	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3741004	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs4412777	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs4544026	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs4944575	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs4944580	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];0.88[MKK][hapmap];0.86[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs4944581	0.93[CHB][hapmap];1.00[JPT][hapmap];0.85[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs4944583	0.90[ASN][1000 genomes]
rs601646	0.82[LWK][hapmap]
rs6592295	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs6592296	1.00[CHB][hapmap];0.94[ASN][1000 genomes]
rs663208	0.83[LWK][hapmap]
rs664613	0.83[LWK][hapmap]
rs669325	0.83[LWK][hapmap]
rs7108055	1.00[CHB][hapmap];0.90[ASN][1000 genomes]
rs7109853	1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[MEX][hapmap];0.81[TSI][hapmap];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7122239	1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[MEX][hapmap];0.81[TSI][hapmap];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7122479	1.00[CHB][hapmap];0.94[CHD][hapmap];0.94[ASN][1000 genomes]
rs7123773	1.00[CHB][hapmap];0.97[CHD][hapmap];0.91[ASN][1000 genomes]
rs7941054	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs7946332	0.91[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	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
rs2125362	PRSS23	cis	parietal	SCAN

Chromatin state (count:66 , 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	chr11:86142000-86167400	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr11:86145400-86167400	Weak transcription	Pancreas	Pancrea
5	chr11:86150200-86167400	Weak transcription	Stomach Mucosa	stomach
6	chr11:86151800-86167400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr11:86151800-86167400	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr11:86152400-86172200	Weak transcription	Fetal Brain Male	brain
9	chr11:86153200-86187000	Weak transcription	Fetal Kidney	kidney
10	chr11:86154000-86167400	Weak transcription	NH-A	brain
11	chr11:86154000-86169600	Weak transcription	HSMM	muscle
12	chr11:86154000-86170800	Weak transcription	Esophagus	oesophagus
13	chr11:86154600-86167400	Weak transcription	Hela-S3	cervix
14	chr11:86154600-86170600	Weak transcription	Brain Cingulate Gyrus	brain
15	chr11:86154800-86171000	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr11:86155000-86167400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr11:86156400-86167400	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr11:86156600-86167400	Weak transcription	Colon Smooth Muscle	Colon
19	chr11:86156800-86169400	Weak transcription	Osteobl	bone
20	chr11:86157000-86167400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr11:86157000-86179800	Weak transcription	Fetal Intestine Large	intestine
22	chr11:86157400-86170800	Weak transcription	Psoas Muscle	Psoas
23	chr11:86158000-86170800	Weak transcription	Fetal Muscle Trunk	muscle
24	chr11:86158200-86167600	Weak transcription	Spleen	Spleen
25	chr11:86158600-86167400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr11:86158600-86167400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr11:86158600-86167400	Weak transcription	Fetal Muscle Leg	muscle
28	chr11:86158600-86167400	Weak transcription	Left Ventricle	heart
29	chr11:86158600-86167400	Weak transcription	Ovary	ovary
30	chr11:86158600-86167400	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr11:86158600-86169000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr11:86158600-86169600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr11:86158600-86170400	Weak transcription	Brain Anterior Caudate	brain
34	chr11:86158600-86170800	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr11:86158600-86170800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr11:86158600-86171000	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr11:86158600-86171000	Weak transcription	Gastric	stomach
38	chr11:86158600-86187200	Weak transcription	Duodenum Mucosa	Duodenum
39	chr11:86158800-86167400	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr11:86158800-86168200	Weak transcription	Aorta	Aorta
41	chr11:86159200-86170800	Weak transcription	Fetal Intestine Small	intestine
42	chr11:86159400-86167400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr11:86159400-86167400	Weak transcription	Right Ventricle	heart
44	chr11:86159600-86167400	Weak transcription	Stomach Smooth Muscle	stomach
45	chr11:86159600-86170800	Weak transcription	Lung	lung
46	chr11:86159600-86196800	Weak transcription	Primary hematopoietic stem cells	blood
47	chr11:86159800-86167400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr11:86159800-86172600	Weak transcription	Fetal Brain Female	brain
49	chr11:86160200-86167600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
50	chr11:86160200-86221000	Weak transcription	Primary T cells from cord blood	blood

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