Variant report

Variant	rs72719133
Chromosome Location	chr14:67871473-67871474
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:67859950..67861959-chr14:67870386..67872536,2	MCF-7	breast:
2	chr14:67869356..67872173-chr14:67872703..67875078,2	K562	blood:
3	chr14:67869261..67871633-chr14:67875881..67878692,2	MCF-7	breast:

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1813	0.84[ASN][1000 genomes]
rs3759756	0.81[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs55818207	0.83[EUR][1000 genomes]
rs57259066	0.90[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs58979599	0.87[ASN][1000 genomes]
rs60541082	0.90[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs72717368	0.83[ASN][1000 genomes]
rs72717369	0.83[ASN][1000 genomes]
rs72717382	0.87[ASN][1000 genomes]
rs72717385	0.87[ASN][1000 genomes]
rs72717392	0.87[ASN][1000 genomes]
rs72717399	0.93[ASN][1000 genomes]
rs72717401	0.93[ASN][1000 genomes]
rs72719111	1.00[ASN][1000 genomes]
rs72719118	1.00[ASN][1000 genomes]
rs72719125	1.00[ASN][1000 genomes]
rs72719127	1.00[ASN][1000 genomes]
rs72719128	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72719129	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72719130	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72719131	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72719134	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72719137	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72719138	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72719140	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72719142	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2751285	chr14:67364747-67886781	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv1045518	chr14:67529049-67959582	Strong transcription Bivalent Enhancer Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	nsv456331	chr14:67732861-68103780	Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	nsv564961	chr14:67732861-68103780	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS 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 miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
5	nsv470651	chr14:67732861-68113293	Active TSS Strong transcription Flanking Active TSS Weak transcription Genic enhancers Enhancers 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	43 gene(s)	inside rSNPs	diseases
6	nsv1054389	chr14:67804987-67922598	Enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
7	nsv542121	chr14:67804987-67922598	Flanking Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Enhancers Active TSS Genic enhancers 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 miRNA target site	30 gene(s)	inside rSNPs	diseases
8	nsv1319	chr14:67863561-67908725	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA	12 gene(s)	inside rSNPs	diseases
9	esv3487440	chr14:67863754-67892047	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
10	esv3487442	chr14:67863758-67892045	Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:67846000-67876200	Weak transcription	Stomach Mucosa	stomach
2	chr14:67850200-67878400	Weak transcription	Lung	lung
3	chr14:67854200-67872000	Weak transcription	Small Intestine	intestine
4	chr14:67855200-67875400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr14:67859600-67876600	Weak transcription	Esophagus	oesophagus
6	chr14:67860000-67876400	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr14:67860800-67878000	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr14:67862000-67876600	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr14:67862800-67878400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr14:67863400-67875800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr14:67864600-67872200	Weak transcription	Fetal Intestine Small	intestine
12	chr14:67864800-67876200	Weak transcription	Hela-S3	cervix
13	chr14:67865200-67875800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr14:67867000-67876200	Weak transcription	Duodenum Mucosa	Duodenum
15	chr14:67869200-67873400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr14:67870800-67872600	Strong transcription	HMEC	breast
17	chr14:67871200-67872000	Weak transcription	NHEK	skin
18	chr14:67871200-67872200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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