Variant report

Variant	rs2446230
Chromosome Location	chr11:86213248-86213249
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:86210913..86213504-chr11:86383764..86386048,2	MCF-7	breast:
2	chr11:86193697..86195389-chr11:86211197..86213851,2	MCF-7	breast:
3	chr11:86209598..86213474-chr11:86222640..86227259,4	K562	blood:
4	chr11:86211974..86214956-chr11:86224089..86226372,2	K562	blood:

Extended variants
information (count: 50 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs1056194	0.82[MEX][hapmap]
rs10751139	0.84[ASN][1000 genomes]
rs11234691	0.85[CHB][hapmap];0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs2446224	0.85[CHB][hapmap]
rs2446225	0.95[CEU][hapmap];0.90[CHB][hapmap]
rs2511082	0.85[CHB][hapmap];0.92[CHD][hapmap]
rs2511083	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4944575	0.82[MEX][hapmap]
rs4944580	0.82[MEX][hapmap];0.81[MKK][hapmap]
rs4944588	0.93[ASN][1000 genomes]
rs579719	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.92[ASN][1000 genomes]
rs582282	1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];0.81[YRI][hapmap];0.94[ASN][1000 genomes]
rs583594	0.90[CHB][hapmap]
rs584953	0.92[CEU][hapmap];0.90[CHB][hapmap]
rs587362	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs590750	0.93[ASN][1000 genomes]
rs601646	0.96[CEU][hapmap];0.90[CHB][hapmap];0.92[CHD][hapmap];0.87[GIH][hapmap];0.86[JPT][hapmap];0.81[LWK][hapmap];0.91[MEX][hapmap];0.88[MKK][hapmap];0.84[TSI][hapmap];0.85[YRI][hapmap]
rs610790	0.96[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.84[GIH][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs611730	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]
rs614995	0.92[CEU][hapmap];0.90[CHB][hapmap];0.95[CHD][hapmap];0.88[GIH][hapmap];0.91[MEX][hapmap];0.84[TSI][hapmap];0.80[ASN][1000 genomes]
rs616794	0.96[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.85[YRI][hapmap];0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs620054	0.92[ASN][1000 genomes]
rs630454	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs631082	0.95[CEU][hapmap];0.90[CHB][hapmap];0.89[JPT][hapmap]
rs632873	0.96[CEU][hapmap];0.90[CHB][hapmap];0.90[JPT][hapmap];0.81[ASN][1000 genomes]
rs633708	0.95[ASN][1000 genomes]
rs638492	1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[ASN][1000 genomes]
rs641541	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs643414	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs647561	0.96[CEU][hapmap];0.90[CHB][hapmap];0.91[JPT][hapmap]
rs651758	0.84[ASN][1000 genomes]
rs653715	0.94[CHB][hapmap];0.90[JPT][hapmap];0.85[YRI][hapmap];0.86[AFR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs658324	1.00[CHB][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs6592295	0.83[YRI][hapmap]
rs660372	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[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs661163	0.92[CEU][hapmap];0.90[CHB][hapmap];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs661328	0.81[ASN][1000 genomes]
rs663208	0.96[CEU][hapmap];0.90[CHB][hapmap];0.97[CHD][hapmap];0.87[GIH][hapmap];0.86[JPT][hapmap];0.87[LWK][hapmap];0.95[MEX][hapmap];0.89[MKK][hapmap];0.87[TSI][hapmap];0.85[YRI][hapmap];0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs664613	0.96[CEU][hapmap];0.90[CHB][hapmap];0.97[CHD][hapmap];0.87[GIH][hapmap];0.91[JPT][hapmap];0.87[LWK][hapmap];0.91[MEX][hapmap];0.89[MKK][hapmap];0.87[TSI][hapmap];0.85[YRI][hapmap];0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs669325	0.90[CHB][hapmap];0.97[CHD][hapmap];0.86[JPT][hapmap];0.87[LWK][hapmap];0.82[MEX][hapmap];0.89[MKK][hapmap];0.88[TSI][hapmap];0.82[AFR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs675775	0.85[CHB][hapmap];0.87[CHD][hapmap]
rs676106	0.96[CEU][hapmap];0.90[CHB][hapmap];0.91[JPT][hapmap];0.83[ASN][1000 genomes]
rs677301	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs677643	0.96[CEU][hapmap];0.90[CHB][hapmap];0.97[CHD][hapmap];0.87[GIH][hapmap];0.86[JPT][hapmap];0.91[MEX][hapmap];0.87[TSI][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs679977	0.92[CEU][hapmap];0.90[CHB][hapmap];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs681333	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs683899	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[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
rs2446230	PRSS23	cis	parietal	SCAN

Chromatin state (count:70 , 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	chr11:86187600-86218600	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr11:86189200-86222600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr11:86189600-86221600	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr11:86195200-86222200	Weak transcription	Rectal Smooth Muscle	rectum
7	chr11:86196200-86213600	Weak transcription	Brain Germinal Matrix	brain
8	chr11:86198600-86222800	Weak transcription	Esophagus	oesophagus
9	chr11:86202800-86226400	Weak transcription	Fetal Lung	lung
10	chr11:86204000-86222200	Weak transcription	Colon Smooth Muscle	Colon
11	chr11:86204600-86220000	Weak transcription	Colonic Mucosa	Colon
12	chr11:86206800-86214200	Weak transcription	Fetal Muscle Leg	muscle
13	chr11:86206800-86214600	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr11:86206800-86214800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr11:86207000-86213400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr11:86209000-86214400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr11:86209000-86214400	Weak transcription	HUVEC	blood vessel
18	chr11:86209200-86213400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr11:86209200-86213400	Weak transcription	Adipose Nuclei	Adipose
20	chr11:86209200-86213800	Weak transcription	Ovary	ovary
21	chr11:86209200-86213800	Weak transcription	Spleen	Spleen
22	chr11:86209200-86214200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr11:86209200-86214400	Weak transcription	Fetal Muscle Trunk	muscle
24	chr11:86209200-86214600	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr11:86209200-86214600	Weak transcription	Osteobl	bone
26	chr11:86209200-86214800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr11:86209200-86215000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr11:86209200-86216600	Weak transcription	Fetal Stomach	stomach
29	chr11:86209200-86218800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr11:86209200-86219600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr11:86209200-86221200	Weak transcription	NH-A	brain
32	chr11:86209200-86223600	Weak transcription	Brain Angular Gyrus	brain
33	chr11:86209200-86226600	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr11:86209400-86213600	Weak transcription	Aorta	Aorta
35	chr11:86209400-86214400	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr11:86209400-86215000	Weak transcription	HSMMtube	muscle
37	chr11:86209400-86219200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr11:86209400-86220000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr11:86209400-86221600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr11:86209400-86221600	Weak transcription	HSMM	muscle
41	chr11:86209600-86218400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr11:86209600-86221800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr11:86209800-86213600	Weak transcription	Stomach Smooth Muscle	stomach
44	chr11:86209800-86218200	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr11:86211400-86213800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr11:86211400-86214400	Weak transcription	Lung	lung
47	chr11:86211400-86218200	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr11:86211400-86222800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr11:86211600-86216800	Weak transcription	HepG2	liver
50	chr11:86211600-86217400	Weak transcription	A549	lung

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