Variant report

Variant	rs71425225
Chromosome Location	chr14:71364847-71364848
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:71362265..71365941-chr14:71372682..71376130,7	MCF-7	breast:
2	chr14:71359505..71362289-chr14:71363900..71365887,4	MCF-7	breast:
3	chr14:71362952..71365427-chr14:71368027..71370762,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000100731	Chromatin interaction

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10137675	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10148633	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11847244	0.94[EUR][1000 genomes]
rs12432180	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12433409	0.94[EUR][1000 genomes]
rs12435675	0.90[EUR][1000 genomes]
rs12878013	0.90[EUR][1000 genomes]
rs12880918	0.94[EUR][1000 genomes]
rs12881674	0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12888201	0.96[EUR][1000 genomes]
rs12891140	0.94[EUR][1000 genomes]
rs12891245	0.90[EUR][1000 genomes]
rs12891445	0.94[EUR][1000 genomes]
rs12892262	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12894731	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12895177	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17108694	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17108711	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17108730	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17108753	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17108869	0.94[EUR][1000 genomes]
rs17108873	0.94[EUR][1000 genomes]
rs17108897	0.94[EUR][1000 genomes]
rs2051865	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2158537	0.81[ASN][1000 genomes]
rs2158998	0.94[EUR][1000 genomes]
rs2286312	0.94[EUR][1000 genomes]
rs2286314	0.94[EUR][1000 genomes]
rs2526891	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs34335220	0.97[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34740221	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs34785361	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34971726	0.94[EUR][1000 genomes]
rs34998980	0.94[EUR][1000 genomes]
rs35041597	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35092982	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35127721	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35168506	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35523654	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs36089307	0.94[EUR][1000 genomes]
rs4488390	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4902872	0.94[EUR][1000 genomes]
rs4902877	0.94[EUR][1000 genomes]
rs4902878	0.94[EUR][1000 genomes]
rs71425229	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7158548	0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1039460	chr14:71176898-71371125	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer 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	13 gene(s)	inside rSNPs	diseases
2	nsv1041980	chr14:71196358-71767339	Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv542125	chr14:71196358-71767339	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv1035416	chr14:71212882-71623271	Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
5	nsv542126	chr14:71212882-71623271	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
6	nsv1049741	chr14:71233043-71462509	Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	nsv1037839	chr14:71263886-71625114	Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
8	nsv542127	chr14:71263886-71625114	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
9	nsv1038007	chr14:71269747-71667680	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
10	nsv1039769	chr14:71310954-71525720	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
11	nsv542128	chr14:71310954-71525720	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
12	nsv1053303	chr14:71316325-71402971	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:71350600-71373000	Weak transcription	Spleen	Spleen
2	chr14:71351800-71365200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr14:71353200-71365200	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr14:71355000-71371600	Weak transcription	Placenta	Placenta
5	chr14:71361200-71366800	Weak transcription	Primary hematopoietic stem cells	blood
6	chr14:71361800-71373400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr14:71362200-71368200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr14:71362200-71370800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr14:71362200-71371600	Weak transcription	Primary T helper cells fromperipheralblood	blood
10	chr14:71362400-71371600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr14:71363400-71365400	Enhancers	Fetal Brain Male	brain
12	chr14:71363400-71366200	Enhancers	Colon Smooth Muscle	Colon
13	chr14:71363600-71365400	Enhancers	Skeletal Muscle Female	skeletal muscle
14	chr14:71363800-71365400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr14:71363800-71365400	Enhancers	HSMMtube	muscle
16	chr14:71363800-71365600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr14:71363800-71365600	Enhancers	Fetal Stomach	stomach
18	chr14:71363800-71366000	Enhancers	Rectal Smooth Muscle	rectum
19	chr14:71363800-71366000	Enhancers	NHLF	lung
20	chr14:71363800-71366000	Enhancers	Osteobl	bone
21	chr14:71363800-71366200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr14:71363800-71368800	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr14:71364000-71365200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr14:71364000-71365400	Enhancers	Muscle Satellite Cultured Cells	--
25	chr14:71364000-71365400	Enhancers	Fetal Lung	lung
26	chr14:71364000-71365400	Enhancers	Fetal Muscle Leg	muscle
27	chr14:71364000-71365400	Enhancers	Hela-S3	cervix
28	chr14:71364000-71365800	Enhancers	NH-A	brain
29	chr14:71364000-71366000	Enhancers	Adipose Nuclei	Adipose
30	chr14:71364000-71366400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
31	chr14:71364000-71373800	Weak transcription	Small Intestine	intestine
32	chr14:71364200-71365200	Weak transcription	Right Atrium	heart
33	chr14:71364200-71365200	Weak transcription	HMEC	breast
34	chr14:71364200-71365600	Enhancers	Duodenum Smooth Muscle	Duodenum
35	chr14:71364200-71368200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr14:71364200-71368200	Weak transcription	Aorta	Aorta
37	chr14:71364200-71373000	Weak transcription	NHEK	skin
38	chr14:71364200-71373600	Weak transcription	Lung	lung
39	chr14:71364400-71365200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr14:71364400-71365200	Weak transcription	Stomach Smooth Muscle	stomach
41	chr14:71364400-71365800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr14:71364400-71366000	Enhancers	NHDF-Ad	bronchial
43	chr14:71364600-71365000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr14:71364600-71365000	Weak transcription	Ovary	ovary
45	chr14:71364600-71365400	Weak transcription	HSMM	muscle
46	chr14:71364800-71366200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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