Variant report

Variant	rs4718430
Chromosome Location	chr7:66432024-66432025
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:66430596..66433000-chr7:66437729..66440706,2	K562	blood:
2	chr7:66424885..66426980-chr7:66429795..66432252,2	MCF-7	breast:

Extended variants
information (count: 24 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10235423	0.80[YRI][hapmap]
rs10267335	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10281796	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11028	0.82[CHB][hapmap];0.83[EUR][1000 genomes]
rs12530806	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12536410	0.85[EUR][1000 genomes]
rs12698546	0.81[EUR][1000 genomes]
rs12698547	0.85[EUR][1000 genomes]
rs13220977	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13227468	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13231140	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13241598	0.86[EUR][1000 genomes]
rs28648401	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2901311	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34577323	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3800817	0.84[EUR][1000 genomes]
rs4717328	0.82[CHB][hapmap];1.00[YRI][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4717331	0.82[CHB][hapmap];1.00[YRI][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4718412	0.87[EUR][1000 genomes]
rs4718422	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4718424	0.82[CHB][hapmap];1.00[YRI][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs68168107	0.85[EUR][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	esv2758118	chr7:66401430-66859253	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	esv2759535	chr7:66401430-66859253	Weak transcription Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs4718430	RP4-756H11.3	cis	Thyroid	GTEx
rs4718430	RP4-756H11.3	cis	lung	GTEx
rs4718430	RP4-756H11.3	cis	Esophagus Muscularis	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:66420600-66459200	Weak transcription	Psoas Muscle	Psoas
2	chr7:66421400-66435200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr7:66423400-66435400	Weak transcription	Colonic Mucosa	Colon
4	chr7:66424000-66434400	Weak transcription	Stomach Mucosa	stomach
5	chr7:66424200-66432600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr7:66424400-66439600	Weak transcription	K562	blood
7	chr7:66424800-66435400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr7:66425000-66433600	Weak transcription	HSMMtube	muscle
9	chr7:66425800-66432200	Weak transcription	Pancreas	Pancrea
10	chr7:66425800-66435400	Weak transcription	Gastric	stomach
11	chr7:66425800-66435600	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr7:66425800-66437200	Weak transcription	Fetal Intestine Large	intestine
13	chr7:66425800-66437800	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr7:66426000-66434400	Weak transcription	Duodenum Mucosa	Duodenum
15	chr7:66426400-66435200	Weak transcription	A549	lung
16	chr7:66426400-66453200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr7:66426600-66432400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr7:66427000-66435200	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr7:66427000-66444800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr7:66427200-66438200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr7:66428200-66435400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr7:66428200-66435600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr7:66428200-66438000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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