Variant report

Variant	rs72719140
Chromosome Location	chr14:67878436-67878437
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:67869261..67871633-chr14:67875881..67878692,2	MCF-7	breast:
2	chr14:67826231..67828926-chr14:67875874..67878480,2	MCF-7	breast:
3	chr14:67878348..67879211-chr15:34659300..34659943,2	Hela-S3	cervix:

Variant related genes	Relation type
ENSG00000134001	Chromatin interaction
ENSG00000176454	Chromatin interaction
ENSG00000100554	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs17184538	1.00[ASN][1000 genomes]
rs45479091	1.00[ASN][1000 genomes]
rs55818207	0.83[EUR][1000 genomes]
rs7157858	1.00[ASN][1000 genomes]
rs72719106	1.00[ASN][1000 genomes]
rs72719108	1.00[ASN][1000 genomes]
rs72719110	1.00[ASN][1000 genomes]
rs72719115	1.00[ASN][1000 genomes]
rs72719116	1.00[ASN][1000 genomes]
rs72719122	1.00[ASN][1000 genomes]
rs72719128	0.87[AMR][1000 genomes]
rs72719129	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72719130	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72719131	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72719133	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72719134	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72719137	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72719138	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72719142	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs8006892	1.00[ASN][1000 genomes]
rs8014211	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 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
11	nsv902066	chr14:67873128-68103780	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS 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	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:67876200-67878600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr14:67876200-67879000	Enhancers	Fetal Heart	heart
3	chr14:67876800-67878600	Flanking Active TSS	Duodenum Mucosa	Duodenum
4	chr14:67877800-67878600	Enhancers	Placenta	Placenta
5	chr14:67877800-67879600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr14:67877800-67880200	Weak transcription	K562	blood
7	chr14:67878000-67878600	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
8	chr14:67878000-67878600	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
9	chr14:67878000-67879000	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
10	chr14:67878000-67879200	Active TSS	Esophagus	oesophagus
11	chr14:67878000-67879200	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
12	chr14:67878000-67879200	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
13	chr14:67878000-67879400	Flanking Active TSS	Pancreas	Pancrea
14	chr14:67878200-67878600	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr14:67878200-67878600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
16	chr14:67878200-67878600	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
17	chr14:67878200-67878800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr14:67878200-67878800	Active TSS	Primary T killer naive cells fromperipheralblood	blood
19	chr14:67878200-67878800	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
20	chr14:67878200-67879000	Active TSS	NH-A	brain
21	chr14:67878200-67879200	Active TSS	Fetal Intestine Small	intestine
22	chr14:67878200-67879200	Active TSS	Gastric	stomach
23	chr14:67878200-67879200	Flanking Active TSS	Placenta Amnion	Placenta Amnion
24	chr14:67878200-67879200	Bivalent/Poised TSS	Sigmoid Colon	Sigmoid Colon
25	chr14:67878200-67879200	Active TSS	Stomach Mucosa	stomach
26	chr14:67878200-67879200	Active TSS	A549	lung
27	chr14:67878200-67879200	Active TSS	NHEK	skin
28	chr14:67878200-67879400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr14:67878200-67879400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
30	chr14:67878400-67878600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr14:67878400-67878600	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr14:67878400-67878600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
33	chr14:67878400-67878600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
34	chr14:67878400-67878600	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
35	chr14:67878400-67878600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr14:67878400-67878600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr14:67878400-67878600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr14:67878400-67878600	Flanking Bivalent TSS/Enh	Primary mononuclear cells fromperipheralblood	Blood
39	chr14:67878400-67878600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
40	chr14:67878400-67878600	Bivalent Enhancer	Left Ventricle	heart
41	chr14:67878400-67878600	Active TSS	Lung	lung
42	chr14:67878400-67878600	Flanking Bivalent TSS/Enh	Rectal Smooth Muscle	rectum
43	chr14:67878400-67878600	Active TSS	Right Atrium	heart
44	chr14:67878400-67878600	Active TSS	Right Ventricle	heart
45	chr14:67878400-67878600	Flanking Bivalent TSS/Enh	Thymus	Thymus
46	chr14:67878400-67878600	Active TSS	HMEC	breast
47	chr14:67878400-67878800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
48	chr14:67878400-67878800	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
49	chr14:67878400-67878800	Bivalent Enhancer	Primary hematopoietic stem cells	blood
50	chr14:67878400-67878800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood

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