Variant report

Variant	rs7115183
Chromosome Location	chr11:17846161-17846162
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	chr11:17845790..17846776-chr11:17999975..18000668,2	MCF-7	breast:

Extended variants
information (count: 28 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11024415	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs11821847	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs1548528	0.90[CHB][hapmap]
rs2107427	1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2158395	0.81[CHB][hapmap]
rs2158396	0.99[ASN][1000 genomes]
rs2237943	0.90[CHB][hapmap];0.89[JPT][hapmap]
rs2237944	0.90[CHB][hapmap]
rs2237946	0.90[CHB][hapmap];0.93[GIH][hapmap]
rs2237948	0.90[CHB][hapmap];0.95[CHD][hapmap];0.93[GIH][hapmap]
rs2283249	0.81[CHB][hapmap]
rs2299632	0.81[CHB][hapmap]
rs2299633	0.81[CHB][hapmap]
rs4757591	1.00[CHB][hapmap];0.95[CHD][hapmap];0.90[JPT][hapmap];0.97[ASN][1000 genomes]
rs4757593	0.90[CHB][hapmap];0.85[CHD][hapmap];0.90[JPT][hapmap];0.82[ASN][1000 genomes]
rs6486398	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs6486399	0.90[CHB][hapmap];0.95[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs7106840	1.00[CHB][hapmap];0.89[JPT][hapmap];0.97[ASN][1000 genomes]
rs7124199	0.99[ASN][1000 genomes]
rs718439	0.90[CHB][hapmap];0.95[CHD][hapmap];0.93[GIH][hapmap]
rs765989	0.90[CHB][hapmap]
rs7929668	1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs7932686	0.90[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs7935967	1.00[CHB][hapmap];1.00[JPT][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	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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7115183	RAB31	trans	lymphoblastoid	seeQTL
rs7115183	SOX6	cis	cerebellum	SCAN

Chromatin state (count:30 , 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	chr11:17844200-17849600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr11:17844200-17850200	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr11:17844400-17846200	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr11:17844400-17848800	Weak transcription	Fetal Muscle Leg	muscle
16	chr11:17844400-17849400	Weak transcription	Adipose Nuclei	Adipose
17	chr11:17844400-17849400	Weak transcription	Ovary	ovary
18	chr11:17844400-17849600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr11:17844400-17849600	Weak transcription	Colon Smooth Muscle	Colon
20	chr11:17844400-17849600	Weak transcription	Lung	lung
21	chr11:17844400-17849600	Weak transcription	HSMMtube	muscle
22	chr11:17844400-17852200	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr11:17844600-17849600	Weak transcription	Stomach Smooth Muscle	stomach
24	chr11:17844600-17849600	Weak transcription	NHDF-Ad	bronchial
25	chr11:17844800-17862000	Weak transcription	Rectal Smooth Muscle	rectum
26	chr11:17845000-17849200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr11:17845200-17848600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr11:17845200-17849600	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr11:17845200-17849800	Weak transcription	Psoas Muscle	Psoas
30	chr11:17845400-17849200	Weak transcription	Right Ventricle	heart

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