Variant report

Variant	rs73347179
Chromosome Location	chr14:45368393-45368394
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr14:45365431-45368515	HepG2	liver:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:45365477..45369212-chr14:45721451..45724440,3	MCF-7	breast:
2	chr14:45367935..45369542-chr14:45743402..45745302,2	K562	blood:
3	chr14:45365342..45368511-chr14:45602012..45605909,4	MCF-7	breast:
4	chr14:45364937..45368444-chr14:45721075..45725396,9	MCF-7	breast:
5	chr14:45366933..45369023-chr20:32256770..32258931,2	MCF-7	breast:
6	chr14:45366346..45369460-chr14:45369465..45372322,3	K562	blood:
7	chr1:55679625..55681662-chr14:45367033..45368986,2	MCF-7	breast:

No data

Variant related genes	Relation type
C14orf28	TF binding region
ENSG00000258633	TF binding region
ENSG00000199739	Chromatin interaction
ENSG00000179476	Chromatin interaction
ENSG00000125967	Chromatin interaction
ENSG00000129534	Chromatin interaction
ENSG00000187790	Chromatin interaction
ENSG00000162402	Chromatin interaction
ENSG00000100442	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11847933	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11851764	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17115679	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17115680	1.00[EUR][1000 genomes]
rs17115681	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs45550535	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56988712	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57494105	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58152153	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58557583	1.00[EUR][1000 genomes]
rs59698927	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60713065	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6572288	1.00[EUR][1000 genomes]
rs73347154	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73347158	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73347182	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73347199	1.00[EUR][1000 genomes]
rs73348920	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73348927	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73348928	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869289	chr14:44752382-45447415	Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	nsv901832	chr14:44847444-45415597	Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
3	nsv995092	chr14:44973489-45393462	Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
4	nsv1047886	chr14:45189653-45543182	Strong transcription Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
5	nsv542079	chr14:45189653-45543182	Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
6	nsv901841	chr14:45198196-45719643	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
7	nsv1053437	chr14:45232269-45424222	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
8	esv1795667	chr14:45361680-45721052	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:45365000-45368800	Active TSS	Stomach Smooth Muscle	stomach
2	chr14:45366000-45368400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr14:45366000-45368400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr14:45366000-45368400	Active TSS	Fetal Stomach	stomach
5	chr14:45366000-45368400	Active TSS	Rectal Mucosa Donor 31	rectum
6	chr14:45366000-45368400	Active TSS	HSMMtube	muscle
7	chr14:45366000-45368600	Active TSS	Right Atrium	heart
8	chr14:45366000-45368600	Active TSS	NHLF	lung
9	chr14:45366200-45368400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr14:45366400-45368600	Active TSS	Ovary	ovary
11	chr14:45367200-45368400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr14:45367200-45368400	Flanking Active TSS	Brain Hippocampus Middle	brain
13	chr14:45367200-45376400	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr14:45367400-45368400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
15	chr14:45367400-45368400	Enhancers	Primary T helper naive cells from peripheral blood	blood
16	chr14:45367400-45368600	Enhancers	Small Intestine	intestine
17	chr14:45367400-45370200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr14:45367400-45371000	Weak transcription	Pancreas	Pancrea
19	chr14:45367400-45371400	Weak transcription	Primary T cells fromperipheralblood	blood
20	chr14:45367400-45374600	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr14:45367400-45375200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr14:45367400-45375200	Weak transcription	Esophagus	oesophagus
23	chr14:45367400-45381200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr14:45367400-45381200	Weak transcription	Lung	lung
25	chr14:45367600-45368400	Active TSS	Skeletal Muscle Female	skeletal muscle
26	chr14:45367600-45368600	Enhancers	Cortex derived primary cultured neurospheres	brain
27	chr14:45367600-45372800	Weak transcription	Placenta	Placenta
28	chr14:45367600-45373000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr14:45367600-45376400	Weak transcription	Primary monocytes fromperipheralblood	blood
30	chr14:45367600-45376400	Weak transcription	Primary hematopoietic stem cells	blood
31	chr14:45367600-45376600	Weak transcription	Fetal Muscle Trunk	muscle
32	chr14:45367600-45381400	Weak transcription	HSMM	muscle
33	chr14:45367800-45368400	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr14:45367800-45368400	Enhancers	Brain Substantia Nigra	brain
35	chr14:45367800-45368600	Enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr14:45367800-45368600	Enhancers	Liver	Liver
37	chr14:45367800-45370200	Weak transcription	Fetal Brain Female	brain
38	chr14:45367800-45371000	Weak transcription	Brain Germinal Matrix	brain
39	chr14:45367800-45375000	Weak transcription	Fetal Intestine Small	intestine
40	chr14:45367800-45376400	Weak transcription	Fetal Intestine Large	intestine
41	chr14:45367800-45376800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
42	chr14:45367800-45378200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr14:45367800-45380000	Weak transcription	Fetal Kidney	kidney
44	chr14:45367800-45380800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr14:45368000-45368400	Active TSS	HUES48 Cell Line	embryonic stem cell
46	chr14:45368000-45368400	Flanking Active TSS	Brain Angular Gyrus	brain
47	chr14:45368000-45368400	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
48	chr14:45368000-45368400	Flanking Active TSS	Fetal Lung	lung
49	chr14:45368000-45368400	Flanking Active TSS	NHDF-Ad	bronchial
50	chr14:45368000-45368600	Flanking Active TSS	Rectal Smooth Muscle	rectum

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