Variant report

Variant	rs13096934
Chromosome Location	chr3:138114291-138114292
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr3:138114266-138114479	K562	blood:	n/a	n/a
2	E2F6	chr3:138114278-138114423	K562	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:138108137..138110673-chr3:138113889..138116211,2	K562	blood:
2	chr3:138112862..138116319-chr3:138116763..138120380,3	MCF-7	breast:
3	chr3:138108024..138110952-chr3:138113271..138115084,3	MCF-7	breast:
4	chr3:138112677..138114319-chr3:138192057..138194447,2	MCF-7	breast:
5	chr3:138112036..138114862-chr3:138120590..138122113,2	K562	blood:
6	chr3:138113362..138114985-chr3:138120209..138122090,2	K562	blood:

No data

Variant related genes	Relation type
MRAS	TF binding region
ENSG00000158220	Chromatin interaction
ENSG00000158186	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs1199337	0.86[EUR][1000 genomes]
rs1199338	0.86[EUR][1000 genomes]
rs12695685	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13074317	0.92[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs13079209	0.92[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs13080413	1.00[ASN][1000 genomes]
rs13083299	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13324341	0.84[EUR][1000 genomes]
rs185244	0.86[EUR][1000 genomes]
rs2279241	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2291127	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2293251	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2306374	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2347252	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34078858	0.84[ASN][1000 genomes]
rs34140440	0.92[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs34568901	0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs34905952	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3732837	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3773750	1.00[ASN][1000 genomes]
rs59217491	0.84[ASN][1000 genomes]
rs6807945	0.84[EUR][1000 genomes]
rs9818870	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9848655	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9851766	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9864898	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9872754	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530056	chr3:137312356-138161861	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv877537	chr3:137979007-138215114	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	nsv530057	chr3:138014877-138734390	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	nsv528349	chr3:138025396-138132393	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	esv1796956	chr3:138051423-138122781	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	esv1848610	chr3:138051423-138133412	Bivalent Enhancer Genic enhancers Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	esv1797142	chr3:138087467-138122781	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	esv1845560	chr3:138087467-138133412	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	esv3447663	chr3:138096329-138273034	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	nsv460864	chr3:138100539-138194435	Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
11	nsv591853	chr3:138100539-138194435	Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
12	nsv526089	chr3:138106698-138122781	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs13096934	MRAS	cis	Artery Aorta	GTEx

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:138090400-138119400	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr3:138097600-138116000	Weak transcription	Aorta	Aorta
3	chr3:138097600-138116600	Weak transcription	Brain Germinal Matrix	brain
4	chr3:138101200-138115000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr3:138101400-138123000	Weak transcription	Fetal Lung	lung
6	chr3:138101600-138120400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr3:138108000-138115800	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr3:138109000-138116800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr3:138109200-138116000	Weak transcription	Fetal Brain Female	brain
10	chr3:138109200-138116800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr3:138109200-138119600	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr3:138109400-138114400	Weak transcription	Brain Hippocampus Middle	brain
13	chr3:138109400-138114800	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr3:138109400-138114800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr3:138109400-138114800	Weak transcription	Fetal Stomach	stomach
16	chr3:138109400-138115200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr3:138109400-138115400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr3:138109400-138115800	Weak transcription	Fetal Muscle Leg	muscle
19	chr3:138109400-138115800	Weak transcription	Gastric	stomach
20	chr3:138109400-138116800	Weak transcription	Stomach Smooth Muscle	stomach
21	chr3:138109400-138119600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr3:138109600-138114400	Weak transcription	Brain Anterior Caudate	brain
23	chr3:138109600-138114800	Weak transcription	Brain Cingulate Gyrus	brain
24	chr3:138109600-138115200	Weak transcription	Ovary	ovary
25	chr3:138109600-138115800	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr3:138109600-138117200	Weak transcription	Pancreas	Pancrea
27	chr3:138109600-138120600	Weak transcription	Colon Smooth Muscle	Colon
28	chr3:138109600-138123000	Weak transcription	Rectal Smooth Muscle	rectum
29	chr3:138109600-138124400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr3:138109800-138115200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr3:138109800-138115400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr3:138109800-138117200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr3:138109800-138118800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr3:138109800-138119600	Weak transcription	Placenta	Placenta
35	chr3:138109800-138123000	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr3:138109800-138124800	Weak transcription	NHLF	lung
37	chr3:138109800-138131400	Weak transcription	NHDF-Ad	bronchial
38	chr3:138110200-138114400	Weak transcription	Brain Substantia Nigra	brain
39	chr3:138110200-138116200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr3:138110200-138117200	Weak transcription	Osteobl	bone
41	chr3:138110200-138120200	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr3:138110200-138121400	Weak transcription	NH-A	brain
43	chr3:138110400-138114800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr3:138110400-138116400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr3:138111200-138114600	Strong transcription	HSMM	muscle
46	chr3:138111400-138116200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr3:138113000-138116200	Enhancers	Left Ventricle	heart
48	chr3:138113000-138116800	Enhancers	Adipose Nuclei	Adipose
49	chr3:138113000-138118000	Enhancers	Fetal Heart	heart
50	chr3:138113000-138118600	Strong transcription	HSMMtube	muscle

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