Variant report

Variant	rs74560308
Chromosome Location	chr14:45384334-45384335
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:17)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:17 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr14:45384150-45384376	K562	blood:	n/a	n/a
2	TAL1	chr14:45383891-45384393	K562	blood:	n/a	n/a
3	GATA1	chr14:45383456-45384511	PBDE	blood:	n/a	chr14:45383823-45383834
4	CHD2	chr14:45384191-45384446	H1-hESC	embryonic stem cell:	n/a	n/a
5	SP1	chr14:45384089-45384396	GM12878	blood:	n/a	n/a
6	NFYB	chr14:45384180-45384380	GM12878	blood:	n/a	n/a
7	TBP	chr14:45384234-45384501	HepG2	liver:	n/a	n/a
8	TBP	chr14:45384246-45384460	K562	blood:	n/a	n/a
9	CHD2	chr14:45384264-45384503	K562	blood:	n/a	n/a
10	SP1	chr14:45384077-45384498	H1-hESC	embryonic stem cell:	n/a	n/a
11	SP1	chr14:45384049-45384458	HepG2	liver:	n/a	n/a
12	PBX3	chr14:45384155-45384371	GM12878	blood:	n/a	n/a
13	TEAD4	chr14:45383990-45384392	K562	blood:	n/a	n/a
14	NFYB	chr14:45384155-45384431	K562	blood:	n/a	n/a
15	TEAD4	chr14:45384016-45384339	K562	blood:	n/a	n/a
16	SP1	chr14:45384080-45384538	H1-hESC	embryonic stem cell:	n/a	n/a
17	NFYA	chr14:45384208-45384471	K562	blood:	n/a	chr14:45384287-45384305

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:45383078..45384611-chr14:45736865..45739302,2	MCF-7	breast:
2	chr14:45365141..45366698-chr14:45382988..45384781,2	MCF-7	breast:
3	chr14:45382331..45385097-chr14:45486659..45488651,2	MCF-7	breast:
4	chr14:45383020..45384802-chr14:45602016..45604484,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000258949	TF binding region
ENSG00000258633	Chromatin interaction
ENSG00000179476	Chromatin interaction
ENSG00000100442	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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	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
9	esv1794986	chr14:45368685-45650813	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
10	esv3437184	chr14:45384202-45388600	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	6 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:45368200-45397400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr14:45375400-45403000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr14:45382000-45400600	Weak transcription	Left Ventricle	heart
4	chr14:45382000-45408000	Weak transcription	Pancreas	Pancrea
5	chr14:45382800-45384800	Enhancers	Fetal Heart	heart
6	chr14:45383000-45384400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr14:45383000-45397600	Weak transcription	Liver	Liver
8	chr14:45383000-45405800	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr14:45383800-45384400	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr14:45384000-45384400	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr14:45384000-45384400	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr14:45384000-45384400	Enhancers	Brain Inferior Temporal Lobe	brain
13	chr14:45384000-45384600	Flanking Active TSS	Adipose Nuclei	Adipose
14	chr14:45384000-45384600	Enhancers	Brain Cingulate Gyrus	brain
15	chr14:45384000-45384600	Active TSS	HepG2	liver
16	chr14:45384000-45384600	Active TSS	NHDF-Ad	bronchial
17	chr14:45384000-45384800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr14:45384200-45384400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr14:45384200-45384400	Enhancers	Brain Substantia Nigra	brain
20	chr14:45384200-45384400	Enhancers	Esophagus	oesophagus
21	chr14:45384200-45384400	Flanking Active TSS	Fetal Muscle Leg	muscle
22	chr14:45384200-45384400	Enhancers	Gastric	stomach
23	chr14:45384200-45384400	Flanking Active TSS	Right Atrium	heart
24	chr14:45384200-45384400	Enhancers	NHEK	skin
25	chr14:45384200-45384600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr14:45384200-45384600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr14:45384200-45384600	Enhancers	Fetal Lung	lung
28	chr14:45384200-45384800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr14:45384200-45384800	Enhancers	Brain Hippocampus Middle	brain

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