Variant report

Variant	rs7947068
Chromosome Location	chr11:68108736-68108737
allele	C/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:21)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:68107593..68111498-chr11:68113363..68117300,5	MCF-7	breast:
2	chr11:68108472..68110362-chr11:68136647..68138790,2	MCF-7	breast:
3	chr11:67979856..67982977-chr11:68108129..68111573,4	MCF-7	breast:
4	chr11:68037006..68040956-chr11:68105916..68111491,8	MCF-7	breast:
5	chr11:68077886..68089318-chr11:68104706..68113920,31	MCF-7	breast:
6	chr11:68025115..68027304-chr11:68108565..68110320,2	MCF-7	breast:
7	chr11:68096680..68098749-chr11:68108536..68110352,2	MCF-7	breast:
8	chr11:68092005..68093732-chr11:68106116..68109045,2	K562	blood:
9	chr11:68108529..68112071-chr11:68120195..68123404,7	MCF-7	breast:
10	chr11:68107714..68112282-chr11:68118336..68124263,11	MCF-7	breast:
11	chr11:67796621..67799492-chr11:68108648..68110244,2	MCF-7	breast:
12	chr11:68082830..68084506-chr11:68108274..68111199,2	K562	blood:
13	chr11:68108535..68111680-chr11:68129129..68132364,4	MCF-7	breast:
14	chr11:67980659..67983724-chr11:68104991..68110188,4	MCF-7	breast:
15	chr11:68108715..68111616-chr2:24306427..24308055,2	MCF-7	breast:
16	chr11:68108161..68113775-chr11:68145002..68152027,11	MCF-7	breast:
17	chr11:68107354..68109500-chr11:68111618..68115254,3	K562	blood:
18	chr11:68106405..68113140-chr11:68145593..68153963,20	MCF-7	breast:
19	chr11:68078044..68085563-chr11:68107392..68113786,23	MCF-7	breast:
20	chr11:68086230..68088365-chr11:68106880..68109067,2	K562	blood:
21	chr11:68107929..68111362-chr11:68116810..68118643,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000171067	Chromatin interaction
ENSG00000115129	Chromatin interaction
ENSG00000162337	Chromatin interaction
ENSG00000110066	Chromatin interaction
ENSG00000255306	Chromatin interaction
ENSG00000110717	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs11574424	0.93[AFR][1000 genomes]
rs17149027	0.95[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17149031	1.00[ASW][hapmap];0.83[LWK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17149041	0.94[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17149042	1.00[ASW][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17159533	0.94[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2089915	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58373012	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58500312	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58779840	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59682172	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60632461	1.00[EUR][1000 genomes]
rs61101778	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61132569	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61539720	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7101866	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7102311	1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7111735	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7112824	1.00[ASW][hapmap];0.97[LWK][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7122741	0.84[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]

Variant overlapped rSNPs/rCNVs (count:8 , 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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7947068	LRP5	cis	lymphoblastoid	seeQTL
rs7947068	LRP5	cis	multi-tissue	Pritchard

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:68096600-68109400	Weak transcription	Brain Angular Gyrus	brain
2	chr11:68096600-68126000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr11:68098000-68109200	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr11:68098400-68115000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr11:68099000-68109000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr11:68099200-68108800	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr11:68100000-68108800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr11:68100200-68108800	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr11:68101000-68109200	Weak transcription	Small Intestine	intestine
10	chr11:68102600-68110800	Enhancers	Left Ventricle	heart
11	chr11:68103000-68111000	Enhancers	Adipose Nuclei	Adipose
12	chr11:68103800-68109000	Weak transcription	Brain Anterior Caudate	brain
13	chr11:68104400-68109200	Enhancers	Skeletal Muscle Female	skeletal muscle
14	chr11:68104400-68110000	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr11:68104600-68110400	Enhancers	Skeletal Muscle Male	skeletal muscle
16	chr11:68104600-68119600	Enhancers	Liver	Liver
17	chr11:68105200-68110200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr11:68105400-68109600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr11:68105400-68111000	Enhancers	Fetal Muscle Leg	muscle
20	chr11:68105600-68108800	Weak transcription	Colonic Mucosa	Colon
21	chr11:68105600-68109200	Weak transcription	Fetal Brain Male	brain
22	chr11:68105600-68113000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr11:68105800-68108800	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr11:68105800-68109200	Weak transcription	Brain Hippocampus Middle	brain
25	chr11:68106000-68110200	Weak transcription	Fetal Brain Female	brain
26	chr11:68106200-68108800	Weak transcription	Aorta	Aorta
27	chr11:68106200-68108800	Weak transcription	Rectal Smooth Muscle	rectum
28	chr11:68106200-68109000	Weak transcription	Brain Substantia Nigra	brain
29	chr11:68106200-68109000	Weak transcription	Fetal Stomach	stomach
30	chr11:68106200-68109000	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr11:68106200-68109400	Weak transcription	Brain Cingulate Gyrus	brain
32	chr11:68106200-68113600	Weak transcription	Spleen	Spleen
33	chr11:68106200-68121800	Weak transcription	Psoas Muscle	Psoas
34	chr11:68106400-68109200	Enhancers	Stomach Smooth Muscle	stomach
35	chr11:68106400-68109800	Weak transcription	HSMMtube	muscle
36	chr11:68106400-68110200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr11:68106800-68109000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr11:68106800-68109000	Enhancers	Primary T helper cells fromperipheralblood	blood
39	chr11:68107000-68109000	Enhancers	HepG2	liver
40	chr11:68107200-68109000	Enhancers	Primary T killer memory cells from peripheral blood	blood
41	chr11:68107200-68109400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
42	chr11:68107200-68109400	Enhancers	Primary T helper naive cells from peripheral blood	blood
43	chr11:68107400-68109000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
44	chr11:68107400-68109200	Enhancers	Primary T cells fromperipheralblood	blood
45	chr11:68107400-68109200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
46	chr11:68107600-68109200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
47	chr11:68107600-68111400	Enhancers	Lung	lung
48	chr11:68107800-68109000	Enhancers	Primary T cells from cord blood	blood
49	chr11:68107800-68109000	Enhancers	Thymus	Thymus
50	chr11:68107800-68109200	Enhancers	Primary T killer naive cells fromperipheralblood	blood

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