Variant report

Variant	rs73463741
Chromosome Location	chr7:127809028-127809029
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:127808536..127810762-chr7:127818528..127820874,2	MCF-7	breast:
2	chr7:127808763..127810405-chr7:127810686..127812712,2	MCF-7	breast:
3	chr7:127805090..127809170-chr7:127810830..127813761,4	K562	blood:
4	chr7:127806235..127809170-chr7:127810830..127812397,2	K562	blood:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs17151828	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17151835	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs55780500	0.97[ASN][1000 genomes]
rs58018753	1.00[ASN][1000 genomes]
rs6977874	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73463747	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73463763	1.00[EUR][1000 genomes];0.81[ASN][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	nsv1022385	chr7:127246656-127971194	Weak transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv539120	chr7:127246656-127971194	Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS 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	37 gene(s)	inside rSNPs	diseases
3	esv33413	chr7:127800064-127929303	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
4	esv989073	chr7:127800713-127812327	Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127805600-127809200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
2	chr7:127806200-127809200	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr7:127808000-127809200	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
4	chr7:127808200-127809200	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr7:127808200-127809200	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
6	chr7:127808400-127809200	Enhancers	Spleen	Spleen
7	chr7:127808600-127809200	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr7:127808600-127809200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr7:127808600-127809200	Active TSS	Brain Inferior Temporal Lobe	brain
10	chr7:127808800-127809200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
11	chr7:127808800-127809200	Bivalent Enhancer	H9 Cell Line	embryonic stem cell
12	chr7:127808800-127809200	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr7:127808800-127809200	Bivalent Enhancer	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr7:127808800-127809200	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr7:127808800-127809200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
16	chr7:127808800-127809400	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
17	chr7:127808800-127809400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr7:127808800-127809600	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr7:127808800-127821000	Weak transcription	Right Atrium	heart
20	chr7:127809000-127809200	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
21	chr7:127809000-127809200	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
22	chr7:127809000-127809200	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
23	chr7:127809000-127809200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin

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