Variant report

Variant	rs73409809
Chromosome Location	chr15:44484893-44484894
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:44483275..44485560-chr15:44485692..44487954,2	K562	blood:

Variant related genes	Relation type
ENSG00000171877	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10438304	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28421746	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28425197	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28508007	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28549219	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv431387	chr15:43929378-44862930	Weak transcription Strong transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	158 gene(s)	inside rSNPs	diseases
2	nsv931051	chr15:43988761-44833518	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	154 gene(s)	inside rSNPs	diseases
3	nsv1044435	chr15:44176103-44507403	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
4	nsv1052511	chr15:44266441-44719023	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
5	nsv542371	chr15:44266441-44719023	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
6	esv3351630	chr15:44334624-44547841	Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	nsv904173	chr15:44391572-44522214	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	nsv904174	chr15:44391572-44538660	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	nsv569298	chr15:44401266-44513090	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	nsv904175	chr15:44403988-44538660	Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
11	nsv904176	chr15:44403988-44579854	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
12	esv1843598	chr15:44417606-44526813	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
13	esv3410956	chr15:44425145-44823647	Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
14	esv2754388	chr15:44479709-44592847	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:44481400-44485600	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr15:44482000-44485200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr15:44482600-44485600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr15:44483800-44485600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr15:44484000-44485800	Active TSS	Fetal Adrenal Gland	Adrenal Gland
6	chr15:44484200-44485000	Flanking Active TSS	NHEK	skin
7	chr15:44484200-44485600	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
8	chr15:44484200-44486600	Flanking Active TSS	HUVEC	blood vessel
9	chr15:44484200-44487800	Active TSS	Brain Anterior Caudate	brain
10	chr15:44484200-44488000	Active TSS	Brain Hippocampus Middle	brain
11	chr15:44484200-44488000	Active TSS	Brain Substantia Nigra	brain
12	chr15:44484200-44488200	Active TSS	Brain Inferior Temporal Lobe	brain
13	chr15:44484200-44488200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
14	chr15:44484400-44487800	Active TSS	Brain Angular Gyrus	brain
15	chr15:44484400-44487800	Active TSS	Brain Cingulate Gyrus	brain
16	chr15:44484600-44485000	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
17	chr15:44484600-44485000	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
18	chr15:44484600-44485800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr15:44484600-44487600	Active TSS	HMEC	breast
20	chr15:44484600-44488200	Active TSS	Fetal Brain Female	brain
21	chr15:44484600-44488200	Active TSS	NH-A	brain
22	chr15:44484800-44485000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr15:44484800-44485000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr15:44484800-44485000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr15:44484800-44485000	Flanking Active TSS	Brain Germinal Matrix	brain
26	chr15:44484800-44485000	Flanking Bivalent TSS/Enh	Fetal Heart	heart
27	chr15:44484800-44485000	Bivalent/Poised TSS	NHDF-Ad	bronchial
28	chr15:44484800-44485200	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
29	chr15:44484800-44485600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr15:44484800-44486000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr15:44484800-44486200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
32	chr15:44484800-44486800	Active TSS	Fetal Brain Male	brain

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