Variant report

Variant	rs7102311
Chromosome Location	chr11:68121409-68121410
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:68114310..68115817-chr11:68120866..68122449,2	MCF-7	breast:
2	chr11:67979553..67982275-chr11:68120280..68122678,2	MCF-7	breast:
3	chr11:68107714..68112282-chr11:68118336..68124263,11	MCF-7	breast:
4	chr11:68120512..68122790-chr11:68146125..68148650,2	MCF-7	breast:
5	chr11:68108529..68112071-chr11:68120195..68123404,7	MCF-7	breast:
6	chr11:68038742..68040366-chr11:68121260..68123432,2	MCF-7	breast:
7	chr11:68116764..68118383-chr11:68120873..68123073,2	K562	blood:
8	chr11:68096786..68099376-chr11:68121391..68123163,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000110066	Chromatin interaction
ENSG00000171067	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11574424	1.00[AFR][1000 genomes]
rs17149027	0.95[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17149031	0.95[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17149041	0.94[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17149042	0.95[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17159533	0.95[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2089915	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58373012	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58500312	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58779840	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59682172	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60632461	1.00[EUR][1000 genomes]
rs61101778	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61132569	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61539720	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7101866	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7111735	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7112824	0.95[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7122741	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73515038	1.00[EUR][1000 genomes]
rs73515041	1.00[EUR][1000 genomes]
rs7939653	1.00[EUR][1000 genomes]
rs7939672	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7940269	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7947068	1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv825963	chr11:67763676-68197054	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	149 gene(s)	inside rSNPs	diseases
2	esv3347272	chr11:67969427-68218997	Strong transcription Flanking Active TSS Genic enhancers Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
3	nsv897857	chr11:68056770-68231240	Enhancers Genic enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
4	nsv897858	chr11:68077238-68293545	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
5	nsv897859	chr11:68102000-68231240	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv897860	chr11:68102000-68293545	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
7	nsv1047532	chr11:68103330-68239242	Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
8	nsv541082	chr11:68103330-68239242	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
9	nsv1039671	chr11:68120571-68206630	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7102311	LRP5	cis	multi-tissue	Pritchard

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:68096600-68126000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr11:68106200-68121800	Weak transcription	Psoas Muscle	Psoas
3	chr11:68108600-68121800	Weak transcription	HUVEC	blood vessel
4	chr11:68110600-68137800	Weak transcription	Brain Angular Gyrus	brain
5	chr11:68110800-68125200	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr11:68111000-68122200	Weak transcription	Small Intestine	intestine
7	chr11:68111200-68121600	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr11:68111200-68137400	Weak transcription	Brain Hippocampus Middle	brain
9	chr11:68111400-68126400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr11:68113400-68125600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr11:68113400-68126400	Weak transcription	Fetal Brain Male	brain
12	chr11:68114000-68129600	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr11:68114200-68125800	Weak transcription	Primary hematopoietic stem cells	blood
14	chr11:68114400-68125400	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr11:68114800-68138000	Weak transcription	Fetal Kidney	kidney
16	chr11:68115000-68126200	Strong transcription	Fetal Intestine Small	intestine
17	chr11:68115200-68126000	Weak transcription	GM12878-XiMat	blood
18	chr11:68115200-68126200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
19	chr11:68115400-68135200	Strong transcription	HepG2	liver
20	chr11:68115800-68124000	Weak transcription	K562	blood
21	chr11:68116600-68122400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr11:68116800-68123200	Enhancers	Left Ventricle	heart
23	chr11:68117200-68121800	Enhancers	Right Atrium	heart
24	chr11:68117200-68125200	Weak transcription	Primary T cells from cord blood	blood
25	chr11:68117400-68123200	Enhancers	Rectal Smooth Muscle	rectum
26	chr11:68117400-68125000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr11:68118600-68121800	Weak transcription	Dnd41	blood
28	chr11:68118600-68123800	Weak transcription	Fetal Lung	lung
29	chr11:68118800-68125000	Weak transcription	Fetal Brain Female	brain
30	chr11:68119200-68123200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr11:68119200-68123200	Enhancers	Right Ventricle	heart
32	chr11:68119400-68122600	Flanking Active TSS	Stomach Smooth Muscle	stomach
33	chr11:68119600-68122000	Weak transcription	Brain Germinal Matrix	brain
34	chr11:68119800-68125000	Weak transcription	Fetal Thymus	thymus
35	chr11:68120000-68122000	Enhancers	Skeletal Muscle Male	skeletal muscle
36	chr11:68120000-68122600	Enhancers	Pancreas	Pancrea
37	chr11:68120000-68123200	Enhancers	Adipose Nuclei	Adipose
38	chr11:68120200-68121800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr11:68120200-68122000	Enhancers	Fetal Muscle Leg	muscle
40	chr11:68120200-68123000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr11:68120200-68123200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr11:68120200-68123200	Enhancers	Placenta	Placenta
43	chr11:68120200-68123200	Enhancers	Stomach Mucosa	stomach
44	chr11:68120400-68121600	Enhancers	HMEC	breast
45	chr11:68120400-68121800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr11:68120400-68122000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr11:68120400-68122200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr11:68120400-68122400	Enhancers	Duodenum Mucosa	Duodenum
49	chr11:68120400-68123200	Enhancers	Placenta Amnion	Placenta Amnion
50	chr11:68120600-68121800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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