Variant report

Variant	rs7152667
Chromosome Location	chr14:105363157-105363158
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
ENSG00000142208	Chromatin interaction
ENSG00000178449	Chromatin interaction
ENSG00000259067	Chromatin interaction
ENSG00000140104	Chromatin interaction
ENSG00000272368	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10147348	0.82[ASN][1000 genomes]
rs12894037	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2028414	0.90[JPT][hapmap]
rs2028416	0.82[ASW][hapmap];0.90[JPT][hapmap];0.86[LWK][hapmap]
rs2289453	1.00[JPT][hapmap]
rs2582557	0.90[JPT][hapmap]
rs2841219	0.82[JPT][hapmap]
rs2841220	0.82[JPT][hapmap]
rs2841225	0.82[JPT][hapmap]
rs2841231	0.82[JPT][hapmap]
rs2841233	0.90[JPT][hapmap]
rs2841245	0.87[CHB][hapmap];1.00[JPT][hapmap]
rs2841254	0.87[CHB][hapmap];1.00[JPT][hapmap]
rs4267249	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4983393	0.90[JPT][hapmap]
rs4983561	0.82[JPT][hapmap]
rs56140783	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6576062	1.00[CEU][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7143466	0.82[JPT][hapmap]
rs752265	0.81[ASN][1000 genomes]
rs920499	0.96[CEU][hapmap];0.87[CHB][hapmap];0.89[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9788593	1.00[JPT][hapmap]

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

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs7152667	AHNAK2	cis	cerebellum	SCAN
rs7152667	LINC00638	cis	Artery Aorta	GTEx
rs7152667	DIO3	cis	parietal	SCAN
rs7152667	JAG2	cis	parietal	SCAN
rs7152667	C14orf70	cis	cerebellum	SCAN

Chromatin state (count:48 , 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	chr14:105360800-105363200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr14:105361000-105363800	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr14:105361200-105363400	Enhancers	Stomach Mucosa	stomach
19	chr14:105361200-105363600	Weak transcription	Brain Anterior Caudate	brain
20	chr14:105361200-105363600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr14:105361200-105364200	Weak transcription	Fetal Intestine Large	intestine
22	chr14:105361200-105364600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr14:105361600-105363200	Enhancers	A549	lung
24	chr14:105361800-105363200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr14:105361800-105364200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr14:105361800-105364400	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr14:105362000-105363200	Bivalent Enhancer	Fetal Muscle Leg	muscle
28	chr14:105362000-105363400	Enhancers	Colon Smooth Muscle	Colon
29	chr14:105362000-105364600	Weak transcription	Fetal Brain Female	brain
30	chr14:105362200-105363800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr14:105362200-105363800	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr14:105362200-105365000	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr14:105362400-105363200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr14:105362400-105363200	Weak transcription	Fetal Intestine Small	intestine
35	chr14:105362400-105363200	Enhancers	NHEK	skin
36	chr14:105362400-105364000	Enhancers	HepG2	liver
37	chr14:105362600-105363600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr14:105362600-105364200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr14:105362600-105364200	Enhancers	Fetal Muscle Trunk	muscle
40	chr14:105362600-105364200	Enhancers	Pancreas	Pancrea
41	chr14:105362600-105368200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr14:105362800-105363200	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr14:105362800-105363200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr14:105362800-105363600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr14:105363000-105363200	Enhancers	NHLF	lung
46	chr14:105363000-105363400	Enhancers	Primary B cells from peripheral blood	blood
47	chr14:105363000-105363400	Flanking Active TSS	Stomach Smooth Muscle	stomach
48	chr14:105363000-105364800	Weak transcription	Adipose Nuclei	Adipose

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