Variant report

Variant	rs72721024
Chromosome Location	chr14:68000359-68000360
allele	C/T
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:67902911..67909562-chr14:67998675..68002742,8	MCF-7	breast:
2	chr14:68000136..68002027-chr14:68049030..68051645,2	K562	blood:
3	chr14:67998392..68000379-chr14:68043032..68045856,2	MCF-7	breast:
4	chr14:67998150..68002925-chr14:68034555..68041423,8	MCF-7	breast:
5	chr14:67980933..67983898-chr14:67998089..68001326,3	MCF-7	breast:
6	chr14:67954443..67956751-chr14:67999962..68001506,2	MCF-7	breast:
7	chr14:67999159..68000744-chr14:68160589..68162912,2	MCF-7	breast:
8	chr14:67981257..67983579-chr14:67998739..68001743,3	MCF-7	breast:
9	chr14:67998411..68001693-chr14:68037282..68040664,3	K562	blood:
10	chr14:67999015..68003161-chr14:68029425..68040471,13	MCF-7	breast:
11	chr14:67998697..68001854-chr14:68041996..68045954,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000072042	Chromatin interaction
ENSG00000054690	Chromatin interaction
ENSG00000265993	Chromatin interaction
ENSG00000198133	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs3742867	0.86[EUR][1000 genomes]
rs8006273	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:67999000-68000600	Active TSS	Colon Smooth Muscle	Colon
2	chr14:67999000-68000800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr14:67999000-68001200	Active TSS	Rectal Mucosa Donor 29	rectum
4	chr14:67999200-68000400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr14:67999200-68000400	Enhancers	Fetal Brain Male	brain
6	chr14:67999200-68000400	Active TSS	Fetal Brain Female	brain
7	chr14:67999200-68000600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
8	chr14:67999200-68000600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr14:67999200-68000600	Active TSS	Aorta	Aorta
10	chr14:67999200-68000600	Active TSS	Sigmoid Colon	Sigmoid Colon
11	chr14:67999200-68000600	Active TSS	K562	blood
12	chr14:67999200-68000600	Active TSS	Osteobl	bone
13	chr14:67999200-68000800	Active TSS	ES-I3 Cell Line	embryonic stem cell
14	chr14:67999200-68000800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
15	chr14:67999200-68000800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr14:67999200-68000800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr14:67999200-68000800	Active TSS	Pancreas	Pancrea
18	chr14:67999200-68001000	Active TSS	H9 Cell Line	embryonic stem cell
19	chr14:67999200-68001000	Active TSS	Pancreatic Islets	Pancreatic Islet
20	chr14:67999200-68001000	Active TSS	Rectal Smooth Muscle	rectum
21	chr14:67999400-68000400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr14:67999400-68000400	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr14:67999400-68000400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr14:67999400-68000400	Active TSS	Muscle Satellite Cultured Cells	--
25	chr14:67999400-68000400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr14:67999400-68000400	Active TSS	Fetal Lung	lung
27	chr14:67999400-68000400	Active TSS	Ovary	ovary
28	chr14:67999400-68000400	Active TSS	A549	lung
29	chr14:67999400-68000400	Active TSS	HSMM	muscle
30	chr14:67999400-68000400	Active TSS	HSMMtube	muscle
31	chr14:67999400-68000400	Active TSS	NHEK	skin
32	chr14:67999400-68000600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr14:67999400-68000600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr14:67999400-68000600	Active TSS	HUES48 Cell Line	embryonic stem cell
35	chr14:67999400-68000600	Active TSS	iPS-15b Cell Line	embryonic stem cell
36	chr14:67999400-68000600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
37	chr14:67999400-68000600	Active TSS	Breast Myoepithelial Primary Cells	Breast
38	chr14:67999400-68000600	Active TSS	Primary T cells from cord blood	blood
39	chr14:67999400-68000600	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr14:67999400-68000600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr14:67999400-68000600	Bivalent/Poised TSS	Primary mononuclear cells fromperipheralblood	Blood
42	chr14:67999400-68000600	Active TSS	Esophagus	oesophagus
43	chr14:67999400-68000600	Active TSS	Left Ventricle	heart
44	chr14:67999400-68000600	Active TSS	Placenta Amnion	Placenta Amnion
45	chr14:67999400-68000600	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
46	chr14:67999400-68000600	Active TSS	NHLF	lung
47	chr14:67999400-68000800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr14:67999400-68000800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr14:67999400-68000800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr14:67999400-68000800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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