Variant report

Variant	rs72607753
Chromosome Location	chr7:128345171-128345172
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:128345022-128345212	GM12878	blood:	n/a	n/a
2	JUND	chr7:128345039-128345426	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:128343789..128345525-chr7:128387632..128390357,2	K562	blood:
2	chr7:128336358..128338918-chr7:128343519..128346350,2	K562	blood:
3	chr7:128343745..128346373-chr7:128352660..128354319,2	MCF-7	breast:

Variant related genes	Relation type
FAM71F1	TF binding region
ENSG00000252866	Chromatin interaction
ENSG00000201041	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10276394	0.86[ASN][1000 genomes]
rs3807125	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3807126	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4283986	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4524716	0.81[ASN][1000 genomes]
rs4731507	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4731508	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61544090	0.81[AFR][1000 genomes]
rs62483368	0.81[AFR][1000 genomes]
rs6946321	0.82[AFR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv427806	chr7:128179989-128428182	ZNF genes & repeats Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv1016979	chr7:128333070-128534438	Active TSS Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:128338000-128346000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr7:128338600-128349000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr7:128339000-128358800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr7:128341200-128346000	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr7:128341800-128346000	Weak transcription	HMEC	breast
6	chr7:128343600-128345200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr7:128343600-128345600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr7:128343800-128345400	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr7:128343800-128345400	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr7:128343800-128345800	Weak transcription	Right Atrium	heart
11	chr7:128344000-128345400	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr7:128344000-128346200	Weak transcription	Spleen	Spleen
13	chr7:128344000-128348200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr7:128344000-128349000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr7:128344200-128348600	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr7:128344400-128348600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr7:128344600-128345400	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr7:128344600-128347000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr7:128344800-128345400	Enhancers	H1 Cell Line	embryonic stem cell
20	chr7:128344800-128346400	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr7:128344800-128346400	Bivalent Enhancer	K562	blood
22	chr7:128345000-128345200	Enhancers	Primary neutrophils fromperipheralblood	blood
23	chr7:128345000-128345400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr7:128345000-128345600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr7:128345000-128346000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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