Variant report

Variant	rs57576904
Chromosome Location	chr14:105363207-105363208
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:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:105347472..105352873-chr14:105360965..105365202,8	MCF-7	breast:
2	chr14:105363028..105363697-chr14:105406799..105407525,3	MCF-7	breast:
3	chr14:105362868..105363611-chr14:105435227..105436201,3	MCF-7	breast:
4	chr14:105294072..105294589-chr14:105362751..105363336,2	MCF-7	breast:
5	chr14:105362754..105363622-chr14:105511827..105512699,2	MCF-7	breast:
6	chr14:105362756..105363700-chr14:105511815..105512636,5	K562	blood:
7	chr14:105362730..105363610-chr14:105406815..105407855,5	MCF-7	breast:
8	chr14:105361378..105363215-chr14:105404898..105407552,2	K562	blood:
9	chr14:105362982..105363570-chr14:105399412..105400181,2	MCF-7	breast:
10	chr14:105362950..105363625-chr14:105442393..105443041,2	MCF-7	breast:
11	chr14:105341650..105345212-chr14:105361341..105364354,4	MCF-7	breast:
12	chr14:105353091..105355273-chr14:105361625..105363258,2	K562	blood:
13	chr14:105362768..105363662-chr14:105553187..105553782,2	MCF-7	breast:
14	chr14:105252680..105255537-chr14:105361891..105364702,2	K562	blood:
15	chr14:105354054..105356669-chr14:105361595..105363882,2	MCF-7	breast:
16	chr14:105362824..105365816-chr14:105449816..105452715,3	MCF-7	breast:
17	chr14:105360455..105364557-chr14:105369943..105375774,6	MCF-7	breast:
18	chr14:105264532..105267379-chr14:105360102..105364298,4	MCF-7	breast:
19	chr12:50505022..50507306-chr14:105361578..105364030,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000179627	Chromatin interaction
ENSG00000140104	Chromatin interaction
ENSG00000272368	Chromatin interaction
ENSG00000142208	Chromatin interaction
ENSG00000178449	Chromatin interaction
ENSG00000259067	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs61731617	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73354395	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73355743	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73355745	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73355749	0.88[AMR][1000 genomes];0.97[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	nsv530812	chr14:104775571-105364883	Genic enhancers Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
2	nsv1053591	chr14:105024558-105475931	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
3	nsv542224	chr14:105024558-105475931	Bivalent Enhancer Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
4	nsv902389	chr14:105092479-105366499	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
5	esv1828345	chr14:105100787-105803170	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
6	nsv542225	chr14:105133688-105803170	Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
7	nsv542227	chr14:105157572-105803170	Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	147 gene(s)	inside rSNPs	diseases
8	nsv902413	chr14:105246686-105366499	Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
9	esv1840298	chr14:105274292-105366499	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
10	nsv902416	chr14:105277209-105366499	Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
11	nsv456456	chr14:105285159-105412541	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
12	nsv566099	chr14:105285159-105412541	Bivalent Enhancer Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
13	nsv917106	chr14:105339195-105803170	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
14	nsv566139	chr14:105347296-105417147	Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:105340000-105363600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr14:105352200-105363800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr14:105352600-105365200	Weak transcription	Fetal Lung	lung
4	chr14:105353200-105363600	Weak transcription	Osteobl	bone
5	chr14:105354000-105369800	Weak transcription	HSMMtube	muscle
6	chr14:105354400-105364600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr14:105354600-105363600	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr14:105354800-105365400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr14:105355200-105365200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr14:105355400-105367000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr14:105355600-105363600	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr14:105356000-105363400	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr14:105356000-105363600	Weak transcription	Ovary	ovary
14	chr14:105356200-105365000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr14:105359400-105363600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr14:105361000-105363800	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr14:105361200-105363400	Enhancers	Stomach Mucosa	stomach
18	chr14:105361200-105363600	Weak transcription	Brain Anterior Caudate	brain
19	chr14:105361200-105363600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr14:105361200-105364200	Weak transcription	Fetal Intestine Large	intestine
21	chr14:105361200-105364600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr14:105361800-105364200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr14:105361800-105364400	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr14:105362000-105363400	Enhancers	Colon Smooth Muscle	Colon
25	chr14:105362000-105364600	Weak transcription	Fetal Brain Female	brain
26	chr14:105362200-105363800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr14:105362200-105363800	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr14:105362200-105365000	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr14:105362400-105364000	Enhancers	HepG2	liver
30	chr14:105362600-105363600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr14:105362600-105364200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr14:105362600-105364200	Enhancers	Fetal Muscle Trunk	muscle
33	chr14:105362600-105364200	Enhancers	Pancreas	Pancrea
34	chr14:105362600-105368200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr14:105362800-105363600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr14:105363000-105363400	Enhancers	Primary B cells from peripheral blood	blood
37	chr14:105363000-105363400	Flanking Active TSS	Stomach Smooth Muscle	stomach
38	chr14:105363000-105364800	Weak transcription	Adipose Nuclei	Adipose
39	chr14:105363200-105363400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr14:105363200-105363800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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