Variant report

Variant	rs4944580
Chromosome Location	chr11:86157998-86157999
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:86156987..86159385-chr19:51409704..51412105,2	MCF-7	breast:
2	chr11:86152679..86155183-chr11:86156191..86160903,4	K562	blood:

Variant related genes	Relation type
ENSG00000167749	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs1056194	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10792854	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10898483	0.87[CHD][hapmap]
rs10898484	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11601917	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12417575	0.80[EUR][1000 genomes]
rs1563682	1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[MEX][hapmap];0.91[ASN][1000 genomes]
rs2125362	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]
rs2125363	1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs2446230	0.82[MEX][hapmap];0.81[MKK][hapmap]
rs3741004	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4412777	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4544026	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4944575	0.86[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4944581	0.95[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4944583	0.91[ASN][1000 genomes]
rs601646	0.86[ASW][hapmap];0.91[LWK][hapmap];0.88[MKK][hapmap];0.85[AFR][1000 genomes]
rs610790	0.82[MEX][hapmap]
rs611730	0.82[MEX][hapmap]
rs621653	0.85[AFR][1000 genomes]
rs6592295	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6592296	1.00[CHB][hapmap];0.91[ASN][1000 genomes]
rs660372	0.82[MEX][hapmap];0.81[MKK][hapmap]
rs663208	0.86[ASW][hapmap];0.90[LWK][hapmap];0.87[MKK][hapmap]
rs664613	0.86[ASW][hapmap];0.90[LWK][hapmap];0.87[MKK][hapmap]
rs669325	0.86[ASW][hapmap];0.90[LWK][hapmap];0.87[MKK][hapmap]
rs7108055	1.00[CHB][hapmap];0.87[ASN][1000 genomes]
rs7109853	1.00[CHB][hapmap];0.97[CHD][hapmap];0.91[ASN][1000 genomes]
rs7122239	1.00[CHB][hapmap];0.97[CHD][hapmap];0.90[ASN][1000 genomes]
rs7122479	1.00[CHB][hapmap];0.97[CHD][hapmap];0.81[MEX][hapmap];0.91[ASN][1000 genomes]
rs7123773	1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[MEX][hapmap];0.80[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7941054	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7946332	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[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
rs4944580	PRSS23	cis	parietal	SCAN

Chromatin state (count:70 , 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	chr11:86149800-86158600	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr11:86150200-86158400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr11:86150200-86167400	Weak transcription	Stomach Mucosa	stomach
8	chr11:86150600-86159400	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr11:86151000-86159200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr11:86151200-86158600	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr11:86151200-86159800	Strong transcription	Fetal Brain Female	brain
12	chr11:86151200-86159800	Strong transcription	Fetal Stomach	stomach
13	chr11:86151400-86158400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr11:86151800-86167400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr11:86151800-86167400	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr11:86152000-86158600	Strong transcription	Brain Germinal Matrix	brain
17	chr11:86152200-86159400	Strong transcription	Adipose Nuclei	Adipose
18	chr11:86152400-86164000	Weak transcription	Brain Substantia Nigra	brain
19	chr11:86152400-86172200	Weak transcription	Fetal Brain Male	brain
20	chr11:86152600-86158600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr11:86152600-86159600	Strong transcription	Stomach Smooth Muscle	stomach
22	chr11:86153000-86161200	Weak transcription	Colonic Mucosa	Colon
23	chr11:86153200-86159200	Weak transcription	Primary T cells from cord blood	blood
24	chr11:86153200-86187000	Weak transcription	Fetal Kidney	kidney
25	chr11:86153400-86158000	Weak transcription	Duodenum Mucosa	Duodenum
26	chr11:86153400-86159400	Strong transcription	Right Ventricle	heart
27	chr11:86153600-86158600	Strong transcription	Primary hematopoietic stem cells	blood
28	chr11:86153600-86158800	Strong transcription	Aorta	Aorta
29	chr11:86153600-86158800	Weak transcription	Liver	Liver
30	chr11:86153800-86158000	Strong transcription	Fetal Muscle Trunk	muscle
31	chr11:86154000-86158600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr11:86154000-86158600	Strong transcription	Skeletal Muscle Male	skeletal muscle
33	chr11:86154000-86166800	Weak transcription	A549	lung
34	chr11:86154000-86167400	Weak transcription	NH-A	brain
35	chr11:86154000-86169600	Weak transcription	HSMM	muscle
36	chr11:86154000-86170800	Weak transcription	Esophagus	oesophagus
37	chr11:86154200-86159800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr11:86154200-86160600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr11:86154200-86167000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr11:86154400-86158800	Strong transcription	Skeletal Muscle Female	skeletal muscle
41	chr11:86154600-86167400	Weak transcription	Hela-S3	cervix
42	chr11:86154600-86170600	Weak transcription	Brain Cingulate Gyrus	brain
43	chr11:86154800-86159600	Strong transcription	Lung	lung
44	chr11:86154800-86171000	Weak transcription	Placenta Amnion	Placenta Amnion
45	chr11:86155000-86158600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr11:86155000-86158600	Strong transcription	Duodenum Smooth Muscle	Duodenum
47	chr11:86155000-86167400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr11:86155400-86159200	Strong transcription	Fetal Intestine Small	intestine
49	chr11:86155800-86158600	Strong transcription	Brain Anterior Caudate	brain
50	chr11:86155800-86158600	Strong transcription	Left Ventricle	heart

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