Variant report

Variant	rs57246717
Chromosome Location	chr3:46994243-46994244
allele	A/G
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:46988617..46992704-chr3:46994196..46998366,6	K562	blood:
2	chr3:46993900..46995465-chr3:47020609..47023275,2	MCF-7	breast:
3	chr3:46987488..46994423-chr3:47016253..47019914,6	MCF-7	breast:
4	chr3:46988418..46991129-chr3:46992863..46994642,3	MCF-7	breast:
5	chr3:46993850..46995776-chr3:46997950..47000879,2	MCF-7	breast:
6	chr3:46992891..46995361-chr3:47004607..47007374,2	MCF-7	breast:
7	chr3:46993041..46995087-chr3:46996208..46998631,3	K562	blood:
8	chr3:46992711..46994503-chr3:47010548..47012316,2	K562	blood:
9	chr3:46983607..46987334-chr3:46993451..46998407,5	K562	blood:

No data

Variant related genes	Relation type
ENSG00000160796	Chromatin interaction
ENSG00000160799	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10510753	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1109497	0.89[AMR][1000 genomes]
rs17079331	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17079336	0.99[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs2385870	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4515087	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57313197	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58840220	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs59321380	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs60811415	0.89[AMR][1000 genomes]
rs6442051	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs72905877	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72905900	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72907932	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72907946	0.80[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs7612808	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7632511	1.00[AFR][1000 genomes];0.90[AMR][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	nsv536558	chr3:46706571-47024756	Enhancers Bivalent Enhancer Active TSS Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
2	nsv915922	chr3:46768104-47009805	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv876755	chr3:46895109-47061183	Genic enhancers Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	nsv460526	chr3:46935527-47001350	Genic enhancers Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv3800	chr3:46961648-47007241	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv1012682	chr3:46973552-47016357	Genic enhancers Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	esv3461834	chr3:46977730-47173228	Active TSS Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
8	esv3461835	chr3:46977822-47173168	Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
9	esv3461836	chr3:46977822-47173168	Weak transcription Active TSS Genic enhancers Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:46977000-47000000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr3:46979600-46994600	Genic enhancers	Fetal Thymus	thymus
3	chr3:46984200-46996400	Enhancers	Liver	Liver
4	chr3:46985600-46995200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr3:46985800-47004400	Enhancers	Primary T helper cells fromperipheralblood	blood
6	chr3:46987600-46994800	Enhancers	Fetal Intestine Large	intestine
7	chr3:46988000-47003200	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr3:46988400-46994600	Genic enhancers	Dnd41	blood
9	chr3:46988600-46994400	Enhancers	Primary hematopoietic stem cells	blood
10	chr3:46989200-46995400	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr3:46989800-46995200	Enhancers	Primary T killer memory cells from peripheral blood	blood
12	chr3:46989800-46998600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr3:46989800-47000600	Weak transcription	Brain Germinal Matrix	brain
14	chr3:46989800-47000600	Weak transcription	NHDF-Ad	bronchial
15	chr3:46989800-47001200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr3:46990000-46995400	Weak transcription	HSMMtube	muscle
17	chr3:46990000-47006800	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr3:46990200-46995200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr3:46990200-46995400	Enhancers	Primary T helper cells PMA-I stimulated	--
20	chr3:46990200-46998200	Weak transcription	Aorta	Aorta
21	chr3:46990200-47000800	Weak transcription	Fetal Brain Female	brain
22	chr3:46990400-47000000	Enhancers	Primary T cells fromperipheralblood	blood
23	chr3:46991000-46995200	Weak transcription	NH-A	brain
24	chr3:46991000-46996800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr3:46991000-46998800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
26	chr3:46991000-47000200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr3:46991000-47001400	Weak transcription	Osteobl	bone
28	chr3:46991200-46994400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr3:46991200-46994400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr3:46991200-46994400	Weak transcription	Brain Cingulate Gyrus	brain
31	chr3:46991200-46994600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr3:46991200-46994600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr3:46991200-46994600	Enhancers	Primary neutrophils fromperipheralblood	blood
34	chr3:46991200-46994800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr3:46991200-46994800	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr3:46991200-46995000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
37	chr3:46991200-46995200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
38	chr3:46991200-46995200	Weak transcription	HSMM	muscle
39	chr3:46991200-46997000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr3:46991200-46997800	Weak transcription	Brain Angular Gyrus	brain
41	chr3:46991200-46997800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr3:46991200-46998000	Weak transcription	Brain Substantia Nigra	brain
43	chr3:46991200-46998600	Weak transcription	Rectal Smooth Muscle	rectum
44	chr3:46991200-46999600	Enhancers	A549	lung
45	chr3:46991200-47000000	Weak transcription	Fetal Lung	lung
46	chr3:46991200-47000200	Enhancers	Duodenum Mucosa	Duodenum
47	chr3:46991200-47000800	Weak transcription	Fetal Kidney	kidney
48	chr3:46991400-46994400	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr3:46991400-46994600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr3:46991400-47000200	Weak transcription	Muscle Satellite Cultured Cells	--

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