Variant report

Variant	rs1425149
Chromosome Location	chr11:10687828-10687829
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	chr11:10662540..10664082-chr11:10686222..10688544,2	K562	blood:
2	chr11:10686058..10688524-chr11:10689302..10691752,2	MCF-7	breast:

Extended variants
information (count: 69 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs10219376	0.82[EUR][1000 genomes]
rs10431031	0.86[EUR][1000 genomes]
rs10770128	0.95[CEU][hapmap];0.87[GIH][hapmap];0.89[TSI][hapmap];0.91[EUR][1000 genomes]
rs10770129	0.90[CEU][hapmap];0.81[CHB][hapmap];0.81[GIH][hapmap];0.90[JPT][hapmap];0.89[TSI][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10770130	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10770132	0.84[CHD][hapmap];0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs10770133	0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs10840451	0.89[CEU][hapmap];0.86[EUR][1000 genomes]
rs10840454	0.93[EUR][1000 genomes]
rs10840455	0.95[CEU][hapmap];0.84[GIH][hapmap];0.89[TSI][hapmap];0.93[EUR][1000 genomes]
rs10840456	0.90[CEU][hapmap];0.81[CHB][hapmap];0.90[JPT][hapmap];0.89[TSI][hapmap];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10840458	0.87[CHB][hapmap];0.88[CHD][hapmap];0.95[JPT][hapmap];0.96[ASN][1000 genomes]
rs10840459	0.89[ASN][1000 genomes]
rs10840460	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10840461	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10840462	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10840463	0.91[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10840464	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10840465	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10840466	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10840467	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10840468	0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs11042909	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11042910	0.85[JPT][hapmap]
rs11042911	0.84[CHD][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs11042913	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12363422	0.85[ASN][1000 genomes]
rs12420672	0.85[ASN][1000 genomes]
rs12420675	0.85[ASN][1000 genomes]
rs1390572	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1390573	0.87[ASN][1000 genomes]
rs1425150	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1425151	0.83[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.80[MKK][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1544862	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1544863	0.87[CHB][hapmap];0.88[CHD][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs16908157	0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs16908159	0.84[CHD][hapmap];0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs16908162	0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs1845832	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1874444	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1895712	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2098840	0.95[ASN][1000 genomes]
rs34554801	0.89[ASN][1000 genomes]
rs35040034	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35165550	0.85[ASN][1000 genomes]
rs4243916	0.87[ASN][1000 genomes]
rs4909946	0.87[ASN][1000 genomes]
rs4910166	0.94[JPT][hapmap];0.85[ASN][1000 genomes]
rs7123106	0.81[EUR][1000 genomes]
rs7127014	0.83[EUR][1000 genomes]
rs722274	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs745336	0.87[ASN][1000 genomes]
rs750540	0.85[ASN][1000 genomes]
rs7925193	0.90[JPT][hapmap]
rs7933525	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7935285	0.88[CEU][hapmap];0.95[EUR][1000 genomes]
rs7938027	0.87[ASN][1000 genomes]
rs7938635	0.95[CEU][hapmap];0.95[EUR][1000 genomes]
rs7939662	0.94[JPT][hapmap];0.85[ASN][1000 genomes]
rs7939686	0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs881870	0.84[CHD][hapmap];0.85[JPT][hapmap];0.80[ASN][1000 genomes]
rs903825	0.85[ASN][1000 genomes]
rs903826	0.85[ASN][1000 genomes]
rs903827	0.85[ASN][1000 genomes]
rs903828	0.85[ASN][1000 genomes]
rs9633862	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9633863	0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv430319	chr11:10027543-10711224	Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
2	nsv832063	chr11:10618485-10785281	ZNF genes & repeats Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1425149	RRAS2	cis	cerebellum	SCAN
rs1425149	PLA2G7	trans	parietal	SCAN

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:10674600-10689600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr11:10680600-10696200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr11:10681000-10688800	Weak transcription	Colonic Mucosa	Colon
4	chr11:10681600-10689000	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr11:10682200-10688200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr11:10682200-10690400	Weak transcription	Duodenum Mucosa	Duodenum
7	chr11:10682600-10688800	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr11:10682800-10688200	Weak transcription	Right Atrium	heart
9	chr11:10683800-10692400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr11:10684400-10692000	Enhancers	Ovary	ovary
11	chr11:10684800-10689200	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr11:10685000-10688400	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr11:10685000-10689200	Enhancers	Brain Anterior Caudate	brain
14	chr11:10685000-10690800	Enhancers	NHDF-Ad	bronchial
15	chr11:10685800-10688000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr11:10685800-10688200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr11:10686000-10688200	Weak transcription	Primary hematopoietic stem cells	blood
18	chr11:10686000-10688800	Weak transcription	Esophagus	oesophagus
19	chr11:10686000-10690400	Weak transcription	Spleen	Spleen
20	chr11:10686000-10692200	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr11:10686200-10688200	Weak transcription	Adipose Nuclei	Adipose
22	chr11:10686200-10688200	Weak transcription	Brain Substantia Nigra	brain
23	chr11:10686200-10688200	Weak transcription	Fetal Muscle Trunk	muscle
24	chr11:10686200-10688800	Weak transcription	Psoas Muscle	Psoas
25	chr11:10686200-10690400	Weak transcription	Fetal Intestine Small	intestine
26	chr11:10686200-10690400	Weak transcription	Placenta	Placenta
27	chr11:10686400-10688200	Weak transcription	Brain Hippocampus Middle	brain
28	chr11:10686400-10688400	Weak transcription	Fetal Muscle Leg	muscle
29	chr11:10686400-10690400	Enhancers	Colon Smooth Muscle	Colon
30	chr11:10686400-10690400	Weak transcription	Right Ventricle	heart
31	chr11:10686600-10688000	Enhancers	Duodenum Smooth Muscle	Duodenum
32	chr11:10686600-10688400	Weak transcription	Brain Cingulate Gyrus	brain
33	chr11:10686800-10688200	Enhancers	Stomach Smooth Muscle	stomach
34	chr11:10686800-10689000	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr11:10686800-10689800	Enhancers	K562	blood
36	chr11:10686800-10691400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr11:10687200-10689600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
38	chr11:10687200-10692000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr11:10687400-10688200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr11:10687400-10688800	Weak transcription	Left Ventricle	heart
41	chr11:10687400-10689800	Enhancers	Aorta	Aorta
42	chr11:10687400-10690400	Enhancers	Rectal Smooth Muscle	rectum
43	chr11:10687400-10691000	Enhancers	NHLF	lung
44	chr11:10687400-10691400	Enhancers	Placenta Amnion	Placenta Amnion
45	chr11:10687600-10688000	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr11:10687600-10689000	Genic enhancers	Fetal Stomach	stomach
47	chr11:10687600-10689400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr11:10687600-10690400	Weak transcription	Lung	lung
49	chr11:10687600-10690400	Weak transcription	Small Intestine	intestine
50	chr11:10687600-10690800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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