Variant report

Variant	rs11715694
Chromosome Location	chr3:46651256-46651257
allele	A/G
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	E2F6	chr3:46650875-46651321	H1-hESC	embryonic stem cell:	n/a	n/a
2	E2F6	chr3:46650760-46651328	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:46650761..46651345-chr3:46671138..46672058,2	MCF-7	breast:

Variant related genes	Relation type
TDGF1	TF binding region

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11709309	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11713702	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11716682	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11719804	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17221752	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62248664	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62248667	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6792245	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1013306	chr3:46469014-46698538	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv876738	chr3:46639048-46680063	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:46646200-46654000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr3:46648200-46652000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr3:46648200-46652000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr3:46648600-46652000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr3:46650000-46651400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr3:46650400-46651800	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr3:46650600-46651400	Bivalent Enhancer	Fetal Kidney	kidney
8	chr3:46650600-46651400	Bivalent Enhancer	Fetal Muscle Leg	muscle
9	chr3:46650600-46651400	Enhancers	Skeletal Muscle Male	skeletal muscle
10	chr3:46650600-46651600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr3:46650600-46651600	Enhancers	Placenta	Placenta
12	chr3:46650600-46652000	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr3:46650600-46652000	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr3:46650800-46651400	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr3:46650800-46651400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr3:46650800-46651400	Enhancers	Liver	Liver
17	chr3:46650800-46651400	Bivalent Enhancer	HepG2	liver
18	chr3:46650800-46651600	Enhancers	Skeletal Muscle Female	skeletal muscle
19	chr3:46650800-46651800	Bivalent Enhancer	NHEK	skin
20	chr3:46650800-46652000	Enhancers	H9 Cell Line	embryonic stem cell
21	chr3:46650800-46652000	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr3:46650800-46654600	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr3:46651000-46651400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr3:46651000-46651400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr3:46651000-46651400	Enhancers	Psoas Muscle	Psoas
26	chr3:46651000-46651600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr3:46651000-46651600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
28	chr3:46651000-46651600	Enhancers	Right Atrium	heart
29	chr3:46651000-46652000	Enhancers	H1 Cell Line	embryonic stem cell
30	chr3:46651000-46652600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr3:46651200-46651400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr3:46651200-46651400	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr3:46651200-46651600	Enhancers	Hela-S3	cervix
34	chr3:46651200-46652000	Enhancers	Fetal Lung	lung
35	chr3:46651200-46653400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr3:46651200-46653600	Weak transcription	Adipose Nuclei	Adipose

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