Variant report

Variant	rs12797615
Chromosome Location	chr11:86266683-86266684
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:86165495..86167878-chr11:86266316..86268174,2	MCF-7	breast:
2	chr11:86224603..86226586-chr11:86265087..86268010,2	K562	blood:
3	chr11:86262717..86267306-chr11:86267852..86270580,5	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10898498	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10898499	0.89[ASN][1000 genomes]
rs11234696	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11494275	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[TSI][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11606745	1.00[JPT][hapmap]
rs11607733	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12364541	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs12797575	1.00[JPT][hapmap];0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1379872	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1945043	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34249558	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4943943	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4943945	0.96[ASN][1000 genomes]
rs4944592	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7934133	1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.93[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	nsv555665	chr11:86230898-86417553	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12797615	PRSS23	cis	parietal	SCAN
rs12797615	PRSS23	cis	cerebellum	SCAN

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:86259600-86269800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr11:86259600-86270400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr11:86259600-86270800	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr11:86259800-86270800	Weak transcription	Brain Hippocampus Middle	brain
5	chr11:86260000-86268800	Weak transcription	Fetal Kidney	kidney
6	chr11:86260000-86270200	Weak transcription	Brain Angular Gyrus	brain
7	chr11:86260000-86270200	Weak transcription	Brain Substantia Nigra	brain
8	chr11:86261200-86270800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr11:86262400-86268200	Weak transcription	Primary T cells from cord blood	blood
10	chr11:86262400-86270600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr11:86263000-86268600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr11:86263000-86269400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr11:86263000-86269600	Weak transcription	Duodenum Mucosa	Duodenum
14	chr11:86263200-86267200	Weak transcription	Fetal Heart	heart
15	chr11:86263200-86267400	Weak transcription	HSMMtube	muscle
16	chr11:86263200-86269400	Weak transcription	NHDF-Ad	bronchial
17	chr11:86263200-86269600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr11:86263200-86270000	Weak transcription	NHLF	lung
19	chr11:86263200-86270200	Weak transcription	Fetal Lung	lung
20	chr11:86263200-86270600	Weak transcription	Gastric	stomach
21	chr11:86263400-86268600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr11:86263400-86269000	Weak transcription	Osteobl	bone
23	chr11:86263400-86269200	Weak transcription	HMEC	breast
24	chr11:86263400-86269400	Weak transcription	Colon Smooth Muscle	Colon
25	chr11:86263400-86269400	Weak transcription	Hela-S3	cervix
26	chr11:86263400-86269400	Weak transcription	HSMM	muscle
27	chr11:86263400-86270200	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr11:86263400-86270200	Weak transcription	NH-A	brain
29	chr11:86263400-86288200	Weak transcription	Aorta	Aorta
30	chr11:86263600-86268800	Strong transcription	Stomach Smooth Muscle	stomach
31	chr11:86263800-86269800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr11:86263800-86270600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr11:86264200-86271200	Weak transcription	Brain Germinal Matrix	brain
34	chr11:86264400-86267200	Weak transcription	Spleen	Spleen
35	chr11:86264400-86268600	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr11:86264400-86270200	Weak transcription	Brain Anterior Caudate	brain
37	chr11:86264600-86267400	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr11:86264600-86267800	Weak transcription	Right Atrium	heart
39	chr11:86264800-86269000	Weak transcription	Fetal Muscle Trunk	muscle
40	chr11:86264800-86269000	Weak transcription	Stomach Mucosa	stomach
41	chr11:86265000-86268800	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr11:86265000-86268800	Weak transcription	NHEK	skin
43	chr11:86265000-86269000	Weak transcription	Fetal Muscle Leg	muscle
44	chr11:86265000-86269400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr11:86265000-86269400	Weak transcription	Fetal Intestine Large	intestine
46	chr11:86265000-86269600	Weak transcription	Colonic Mucosa	Colon
47	chr11:86265000-86270200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr11:86265000-86270200	Weak transcription	Lung	lung
49	chr11:86265000-86270400	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr11:86265000-86278800	Weak transcription	Pancreas	Pancrea

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