Variant report

Variant	rs73465155
Chromosome Location	chr7:128344140-128344141
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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
ENSG00000252866	Chromatin interaction
ENSG00000201041	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs1013515	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10230965	0.83[ASN][1000 genomes]
rs10231476	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10232401	0.83[ASN][1000 genomes]
rs10243297	0.83[ASN][1000 genomes]
rs10246261	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10251475	0.83[ASN][1000 genomes]
rs10251597	0.83[ASN][1000 genomes]
rs12381410	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12386692	0.83[ASN][1000 genomes]
rs2402930	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs28525628	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28526579	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs339075	0.93[ASN][1000 genomes]
rs4642561	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6467190	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6943009	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6952963	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73465114	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73465147	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73465150	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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
3	esv3379823	chr7:128343907-128344299	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs73465155	RP11-274B21.4	cis	Whole Blood	GTEx

Chromatin state (count:26 , 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	chr7:128340000-128344200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr7:128341200-128346000	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr7:128341800-128344800	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr7:128341800-128346000	Weak transcription	HMEC	breast
8	chr7:128342000-128344600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr7:128343400-128345000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr7:128343600-128344200	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr7:128343600-128344200	Enhancers	Adipose Nuclei	Adipose
12	chr7:128343600-128344200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr7:128343600-128344200	Enhancers	NHLF	lung
14	chr7:128343600-128345200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr7:128343600-128345600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr7:128343800-128344200	Enhancers	Brain Germinal Matrix	brain
17	chr7:128343800-128345400	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr7:128343800-128345400	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr7:128343800-128345800	Weak transcription	Right Atrium	heart
20	chr7:128344000-128344200	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr7:128344000-128344200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr7:128344000-128344600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr7:128344000-128345400	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr7:128344000-128346200	Weak transcription	Spleen	Spleen
25	chr7:128344000-128348200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr7:128344000-128349000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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