Variant report

Variant	rs314747
Chromosome Location	chr11:68170051-68170052
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	HNF4A	chr11:68169870-68170107	HepG2	liver:	n/a	n/a
2	SRF	chr11:68169980-68170341	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:68168970..68170591-chr11:68173033..68174597,2	MCF-7	breast:
2	chr11:68169871..68170837-chr11:68214390..68215423,4	MCF-7	breast:

Variant related genes	Relation type
LRP5	TF binding region
ENSG00000162337	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11228195	1.00[EUR][1000 genomes]
rs12273064	1.00[EUR][1000 genomes]
rs12276515	1.00[EUR][1000 genomes]
rs12280773	1.00[EUR][1000 genomes]
rs12280982	1.00[EUR][1000 genomes]
rs12285801	1.00[EUR][1000 genomes]
rs12294855	1.00[EUR][1000 genomes]
rs2017727	1.00[EUR][1000 genomes]
rs2155729	1.00[EUR][1000 genomes]
rs28369501	1.00[EUR][1000 genomes]
rs28670727	1.00[EUR][1000 genomes]
rs3867142	1.00[EUR][1000 genomes]
rs495137	1.00[EUR][1000 genomes]
rs56014941	1.00[EUR][1000 genomes]
rs57557564	1.00[EUR][1000 genomes]
rs57669893	1.00[EUR][1000 genomes]
rs59876914	1.00[EUR][1000 genomes]
rs60170908	1.00[EUR][1000 genomes]
rs60487218	1.00[EUR][1000 genomes]
rs7120407	1.00[EUR][1000 genomes]
rs7121045	1.00[EUR][1000 genomes]
rs754418	1.00[EUR][1000 genomes]
rs7937163	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 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
10	nsv1036561	chr11:68123135-68315685	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
11	nsv897861	chr11:68129606-68196830	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
12	nsv897862	chr11:68129606-68236389	Strong transcription Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
13	nsv469965	chr11:68140781-68217420	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
14	nsv555285	chr11:68144283-68231240	Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:68142600-68179000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr11:68147400-68181600	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr11:68148600-68196800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr11:68149200-68174000	Weak transcription	Primary B cells from cord blood	blood
5	chr11:68149600-68180400	Weak transcription	NHLF	lung
6	chr11:68157000-68171000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr11:68157200-68174000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr11:68157200-68196600	Weak transcription	NH-A	brain
9	chr11:68157400-68170800	Weak transcription	HMEC	breast
10	chr11:68157600-68171000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr11:68157600-68180400	Weak transcription	Osteobl	bone
12	chr11:68158000-68170800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr11:68158000-68173600	Weak transcription	Brain Cingulate Gyrus	brain
14	chr11:68158600-68170800	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr11:68159200-68177400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr11:68159400-68171000	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr11:68159600-68170800	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr11:68160400-68171000	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr11:68160400-68171200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr11:68164800-68171000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr11:68165800-68178400	Weak transcription	Brain Angular Gyrus	brain
22	chr11:68166000-68170800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr11:68166000-68170800	Weak transcription	GM12878-XiMat	blood
24	chr11:68166000-68171000	Weak transcription	Spleen	Spleen
25	chr11:68166000-68173400	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr11:68166200-68171200	Weak transcription	HUVEC	blood vessel
27	chr11:68167200-68179600	Weak transcription	K562	blood
28	chr11:68167400-68170800	Weak transcription	HSMM	muscle
29	chr11:68167400-68171000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr11:68167400-68171200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr11:68167400-68173400	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr11:68167400-68177600	Weak transcription	Brain Anterior Caudate	brain
33	chr11:68167600-68170600	Weak transcription	Gastric	stomach
34	chr11:68167600-68173400	Weak transcription	Brain Hippocampus Middle	brain
35	chr11:68167600-68173800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr11:68167600-68177400	Weak transcription	Brain Substantia Nigra	brain
37	chr11:68167600-68177400	Weak transcription	Placenta	Placenta
38	chr11:68167800-68170400	Genic enhancers	Fetal Muscle Leg	muscle
39	chr11:68167800-68170800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr11:68167800-68171000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr11:68167800-68171000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr11:68167800-68174000	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr11:68167800-68178600	Weak transcription	Psoas Muscle	Psoas
44	chr11:68167800-68181000	Weak transcription	Small Intestine	intestine
45	chr11:68167800-68196600	Weak transcription	Fetal Brain Male	brain
46	chr11:68168400-68170200	Genic enhancers	Fetal Muscle Trunk	muscle
47	chr11:68168400-68174400	Strong transcription	Fetal Brain Female	brain
48	chr11:68168400-68185000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr11:68168400-68189000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr11:68168600-68170800	Weak transcription	Stomach Mucosa	stomach

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