Variant report

Variant	rs4757591
Chromosome Location	chr11:17844037-17844038
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:17842186..17845184-chr11:17848108..17850179,2	MCF-7	breast:

Extended variants
information (count: 30 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs11024415	1.00[CHB][hapmap];0.90[JPT][hapmap];0.86[ASN][1000 genomes]
rs11821847	0.92[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1548528	0.90[CHB][hapmap];0.90[JPT][hapmap]
rs2107427	0.96[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];0.98[GIH][hapmap];0.90[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2158395	0.81[CHB][hapmap];0.86[MEX][hapmap];0.85[TSI][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2158396	0.99[ASN][1000 genomes]
rs2237943	0.90[CHB][hapmap]
rs2237944	0.90[CHB][hapmap];0.90[JPT][hapmap]
rs2237946	0.90[CHB][hapmap];0.90[JPT][hapmap]
rs2237948	0.90[CHB][hapmap];0.89[CHD][hapmap];0.90[JPT][hapmap]
rs2283249	0.81[CHB][hapmap]
rs2299630	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2299632	0.81[CHB][hapmap];0.84[MEX][hapmap];0.85[TSI][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2299633	0.81[CHB][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4757590	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4757593	0.96[CEU][hapmap];0.90[CHB][hapmap];0.89[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6486398	1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[ASN][1000 genomes]
rs6486399	0.90[CHB][hapmap];0.89[CHD][hapmap];0.89[JPT][hapmap];0.96[ASN][1000 genomes]
rs7106840	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7115183	1.00[CHB][hapmap];0.95[CHD][hapmap];0.90[JPT][hapmap];0.97[ASN][1000 genomes]
rs7124199	0.99[ASN][1000 genomes]
rs718439	0.90[CHB][hapmap];0.89[CHD][hapmap];0.90[JPT][hapmap]
rs765989	0.90[CHB][hapmap];0.90[JPT][hapmap]
rs7929668	1.00[CHB][hapmap];0.95[CHD][hapmap];0.90[JPT][hapmap];0.86[ASN][1000 genomes]
rs7932686	0.96[CEU][hapmap];0.90[CHB][hapmap];0.90[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7935967	0.92[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];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	nsv832078	chr11:17780503-17953521	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
2	nsv1043973	chr11:17781560-17869896	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
3	nsv949248	chr11:17791822-18692687	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
4	nsv897026	chr11:17823296-18084878	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4757591	RRAS2	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:17806800-17867400	Weak transcription	Primary B cells from cord blood	blood
2	chr11:17808200-17861400	Weak transcription	Thymus	Thymus
3	chr11:17831200-17849400	Weak transcription	Primary T cells fromperipheralblood	blood
4	chr11:17832000-17849600	Weak transcription	Primary T cells from cord blood	blood
5	chr11:17833800-17867400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr11:17835000-17849600	Weak transcription	Brain Cingulate Gyrus	brain
7	chr11:17835000-17869400	Weak transcription	Fetal Intestine Small	intestine
8	chr11:17835200-17884200	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr11:17838400-17971600	Weak transcription	Gastric	stomach
10	chr11:17838600-17851000	Weak transcription	Fetal Kidney	kidney
11	chr11:17838800-17860800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr11:17842400-17844600	Enhancers	Psoas Muscle	Psoas
13	chr11:17842400-17845200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr11:17842600-17844400	Enhancers	Skeletal Muscle Male	skeletal muscle
15	chr11:17843000-17844200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr11:17843000-17844400	Enhancers	Primary neutrophils fromperipheralblood	blood
17	chr11:17843000-17844400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr11:17843000-17844400	Enhancers	Fetal Heart	heart
19	chr11:17843000-17844600	Enhancers	NHDF-Ad	bronchial
20	chr11:17843000-17845000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr11:17843000-17845200	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr11:17843200-17844200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr11:17843200-17844200	Enhancers	Brain Anterior Caudate	brain
24	chr11:17843200-17844200	Enhancers	Fetal Lung	lung
25	chr11:17843200-17844400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr11:17843200-17844400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr11:17843200-17844400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr11:17843200-17844400	Enhancers	Colon Smooth Muscle	Colon
29	chr11:17843200-17844400	Enhancers	Pancreatic Islets	Pancreatic Islet
30	chr11:17843200-17844400	Enhancers	Osteobl	bone
31	chr11:17843200-17844600	Enhancers	Stomach Smooth Muscle	stomach
32	chr11:17843200-17844800	Enhancers	Duodenum Smooth Muscle	Duodenum
33	chr11:17843200-17844800	Enhancers	Rectal Smooth Muscle	rectum
34	chr11:17843200-17845000	Enhancers	Fetal Stomach	stomach
35	chr11:17843400-17844200	Enhancers	Brain Inferior Temporal Lobe	brain
36	chr11:17843400-17844200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
37	chr11:17843400-17844200	Enhancers	HSMM	muscle
38	chr11:17843400-17844400	Enhancers	Adipose Nuclei	Adipose
39	chr11:17843400-17844400	Enhancers	Fetal Muscle Leg	muscle
40	chr11:17843400-17844400	Enhancers	Left Ventricle	heart
41	chr11:17843400-17844400	Enhancers	Lung	lung
42	chr11:17843400-17844400	Enhancers	Right Atrium	heart
43	chr11:17843400-17844400	Enhancers	Right Ventricle	heart
44	chr11:17843400-17844400	Enhancers	NHLF	lung
45	chr11:17843600-17844200	Enhancers	Cortex derived primary cultured neurospheres	brain
46	chr11:17843600-17844400	Enhancers	Ovary	ovary
47	chr11:17843800-17844200	Enhancers	iPS-15b Cell Line	embryonic stem cell
48	chr11:17843800-17844400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr11:17843800-17844400	Enhancers	HSMMtube	muscle
50	chr11:17844000-17844400	Enhancers	iPS-18 Cell Line	embryonic stem cell

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