Variant report

Variant	rs26116
Chromosome Location	chr5:14174279-14174280
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:14167574..14170191-chr5:14172276..14175858,4	MCF-7	breast:
2	chr5:14172374..14175679-chr5:14185951..14189494,3	MCF-7	breast:
3	chr5:14141856..14145674-chr5:14173554..14176741,3	MCF-7	breast:
4	chr5:14173022..14175208-chr5:14181474..14183850,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000038382	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10513170	1.00[CEU][hapmap];0.88[TSI][hapmap]
rs164005	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs164006	1.00[CHD][hapmap];1.00[GIH][hapmap]
rs164007	0.82[CEU][hapmap]
rs26115	0.83[ASN][1000 genomes]
rs26117	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs26118	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];0.80[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs26130	1.00[CEU][hapmap];0.83[YRI][hapmap];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs26131	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs26132	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs32569	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs32570	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs354280	1.00[CEU][hapmap]
rs39965	1.00[CHD][hapmap];0.93[GIH][hapmap]
rs512599	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432716	chr5:13779700-14184600	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
2	nsv516415	chr5:13788886-14210897	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
3	nsv1019196	chr5:13790760-14187503	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
4	nsv1020626	chr5:13798819-14177235	Flanking Active TSS Weak transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
5	nsv1015479	chr5:13798819-14180804	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
6	esv2760949	chr5:13798819-14182550	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
7	nsv1017356	chr5:13798819-14182550	Bivalent/Poised TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
8	nsv1018474	chr5:13798819-14184599	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
9	nsv1024037	chr5:13798819-14185039	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
10	nsv1030787	chr5:13799381-14180804	Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
11	nsv1018784	chr5:13815834-14178505	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
12	nsv537672	chr5:13815834-14178505	Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
13	nsv534466	chr5:13847044-14246208	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
14	nsv1020258	chr5:13849471-14178505	Genic enhancers Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
15	nsv537674	chr5:13849471-14178505	ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
16	esv2752061	chr5:14109455-14178040	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	17 gene(s)	inside rSNPs	diseases
17	esv1830112	chr5:14147376-14222601	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
18	esv1825924	chr5:14147376-14270450	Flanking Active TSS Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
19	nsv830209	chr5:14154989-14301758	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
20	nsv948355	chr5:14160447-14395478	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:14164600-14181600	Weak transcription	Esophagus	oesophagus
2	chr5:14165000-14174600	Genic enhancers	HSMM	muscle
3	chr5:14165200-14175400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr5:14165400-14174800	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr5:14165600-14175000	Enhancers	NHDF-Ad	bronchial
6	chr5:14165800-14175200	Enhancers	Colon Smooth Muscle	Colon
7	chr5:14166000-14176000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr5:14166400-14177600	Weak transcription	Hela-S3	cervix
9	chr5:14167200-14176000	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr5:14168400-14175200	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr5:14169200-14174400	Weak transcription	Pancreas	Pancrea
12	chr5:14169200-14180400	Enhancers	HepG2	liver
13	chr5:14170000-14174800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr5:14170000-14174800	Flanking Active TSS	GM12878-XiMat	blood
15	chr5:14170800-14174800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr5:14171200-14174800	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr5:14171200-14174800	Enhancers	Skeletal Muscle Male	skeletal muscle
18	chr5:14171200-14175000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr5:14171200-14175400	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr5:14171400-14175000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
21	chr5:14171400-14176000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr5:14171600-14174600	Enhancers	HSMMtube	muscle
23	chr5:14171600-14174800	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr5:14171600-14174800	Enhancers	HMEC	breast
25	chr5:14171800-14174600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr5:14171800-14174800	Enhancers	Psoas Muscle	Psoas
27	chr5:14171800-14174800	Enhancers	Right Ventricle	heart
28	chr5:14171800-14174800	Enhancers	Sigmoid Colon	Sigmoid Colon
29	chr5:14172000-14175000	Enhancers	Brain Hippocampus Middle	brain
30	chr5:14172000-14175400	Enhancers	NHEK	skin
31	chr5:14172000-14178000	Weak transcription	Fetal Brain Female	brain
32	chr5:14172200-14174600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr5:14172200-14174800	Enhancers	H1 Cell Line	embryonic stem cell
34	chr5:14172200-14174800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr5:14172200-14175600	Enhancers	Osteobl	bone
36	chr5:14172200-14176200	Enhancers	Muscle Satellite Cultured Cells	--
37	chr5:14172400-14174600	Enhancers	Fetal Brain Male	brain
38	chr5:14172400-14174800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr5:14172400-14174800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr5:14172400-14174800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr5:14172400-14174800	Enhancers	Left Ventricle	heart
42	chr5:14172400-14174800	Enhancers	Lung	lung
43	chr5:14172600-14174800	Enhancers	Fetal Muscle Leg	muscle
44	chr5:14172600-14178200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr5:14172800-14174400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
46	chr5:14172800-14174800	Enhancers	Small Intestine	intestine
47	chr5:14173200-14174400	Weak transcription	Placenta	Placenta
48	chr5:14173200-14175000	Enhancers	Primary B cells from peripheral blood	blood
49	chr5:14173400-14174800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr5:14173400-14174800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood

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