Variant report

Variant	rs73208451
Chromosome Location	chr4:7311469-7311470
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs16840039	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17755801	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17756192	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17756479	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17756497	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17756640	1.00[ASN][1000 genomes]
rs17756652	1.00[ASN][1000 genomes]
rs3930439	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4072793	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4689102	0.89[ASN][1000 genomes]
rs73208439	0.89[ASN][1000 genomes]
rs73208443	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73208450	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73208454	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73208466	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73208468	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73208469	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73208470	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73208471	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73208472	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73208473	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34033	chr4:6973270-7390621	Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv829850	chr4:7112509-7314016	Bivalent Enhancer Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
3	nsv432556	chr4:7174993-7391948	Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	2 gene(s)	inside rSNPs	diseases
4	nsv878541	chr4:7211197-7341243	ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	2 gene(s)	inside rSNPs	diseases
5	nsv916610	chr4:7238883-7731946	Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
6	nsv878543	chr4:7282506-7353052	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
7	nsv878544	chr4:7285356-7359966	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
8	nsv878545	chr4:7285356-7363007	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
9	nsv878546	chr4:7285356-7376694	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
10	nsv878547	chr4:7289113-7376694	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
11	nsv593569	chr4:7291363-7626136	Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
12	nsv878548	chr4:7295154-7333152	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
13	nsv878549	chr4:7295154-7376694	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
14	nsv878550	chr4:7297506-7363952	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
15	nsv878551	chr4:7297506-7376694	Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
16	nsv461202	chr4:7311399-7333152	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA	1 gene(s)	inside rSNPs	diseases
17	nsv593570	chr4:7311399-7333152	Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7307200-7316200	Enhancers	Brain Inferior Temporal Lobe	brain
2	chr4:7307600-7311800	Enhancers	Brain Substantia Nigra	brain
3	chr4:7307600-7312000	Bivalent Enhancer	Fetal Muscle Leg	muscle
4	chr4:7307600-7312400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
5	chr4:7308400-7313000	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr4:7308600-7311600	Enhancers	Fetal Heart	heart
7	chr4:7308600-7313000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr4:7308600-7313200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
9	chr4:7309600-7311800	Weak transcription	Fetal Brain Female	brain
10	chr4:7309800-7312400	Weak transcription	HSMMtube	muscle
11	chr4:7309800-7314000	Weak transcription	Brain Hippocampus Middle	brain
12	chr4:7309800-7314600	Weak transcription	Fetal Lung	lung
13	chr4:7310400-7313400	Enhancers	Brain Cingulate Gyrus	brain
14	chr4:7310600-7311600	Enhancers	Left Ventricle	heart
15	chr4:7310600-7313400	Enhancers	Brain Angular Gyrus	brain
16	chr4:7310800-7311800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr4:7310800-7311800	Enhancers	Fetal Brain Male	brain
18	chr4:7311000-7311800	Enhancers	Stomach Smooth Muscle	stomach
19	chr4:7311000-7312000	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr4:7311000-7313000	Enhancers	Brain Anterior Caudate	brain
21	chr4:7311200-7311800	Enhancers	H1 Cell Line	embryonic stem cell
22	chr4:7311200-7311800	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr4:7311200-7312200	Weak transcription	Brain Germinal Matrix	brain
24	chr4:7311400-7311600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr4:7311400-7311800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr4:7311400-7312600	Enhancers	Fetal Stomach	stomach
27	chr4:7311400-7314400	Weak transcription	Fetal Thymus	thymus
28	chr4:7311400-7315000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr4:7311400-7315000	Weak transcription	Right Ventricle	heart

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