Variant report

Variant	rs6965680
Chromosome Location	chr7:66434111-66434112
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	chr7:66426711..66428567-chr7:66432360..66434539,2	K562	blood:

Extended variants
information (count: 62 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10156059	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10224189	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10226191	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10228964	0.86[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs10234322	0.81[EUR][1000 genomes]
rs10234640	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10235638	0.81[EUR][1000 genomes]
rs10241395	0.81[AMR][1000 genomes]
rs10241528	0.80[EUR][1000 genomes]
rs10244459	0.81[AMR][1000 genomes]
rs10245017	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10247324	0.81[EUR][1000 genomes]
rs10247815	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10250124	0.85[EUR][1000 genomes]
rs10263993	0.80[EUR][1000 genomes]
rs10264433	0.88[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs10264555	0.86[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs10265069	0.81[EUR][1000 genomes]
rs10266792	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10280816	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10281090	0.82[EUR][1000 genomes]
rs1060527	0.81[EUR][1000 genomes]
rs13437994	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17680708	0.85[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs17747927	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17748115	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17748222	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2013707	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs28379824	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs28472679	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28501161	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28533332	0.81[EUR][1000 genomes]
rs28634091	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs28641990	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28675035	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28817095	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3778908	0.81[EUR][1000 genomes]
rs3800814	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3800818	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57774708	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs57875851	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs59693594	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60026498	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6971508	0.84[AMR][1000 genomes]
rs71526586	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73139976	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73141980	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73143921	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73143998	0.81[EUR][1000 genomes]
rs73145911	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73145924	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73151646	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73151663	0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs73151665	0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7777631	0.81[EUR][1000 genomes]
rs7785883	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7809359	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7809535	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs868960	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[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	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
3	nsv1032575	chr7:66432853-66576034	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs6965680	GS1-124K5.12	cis	Artery Tibial	GTEx
rs6965680	GS1-124K5.12	cis	Adipose Subcutaneous	GTEx
rs6965680	GS1-124K5.12	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:20 , 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	chr7:66424400-66439600	Weak transcription	K562	blood
6	chr7:66424800-66435400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr7:66425800-66435400	Weak transcription	Gastric	stomach
8	chr7:66425800-66435600	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr7:66425800-66437200	Weak transcription	Fetal Intestine Large	intestine
10	chr7:66425800-66437800	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr7:66426000-66434400	Weak transcription	Duodenum Mucosa	Duodenum
12	chr7:66426400-66435200	Weak transcription	A549	lung
13	chr7:66426400-66453200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr7:66427000-66435200	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr7:66427000-66444800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr7:66427200-66438200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr7:66428200-66435400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr7:66428200-66435600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr7:66428200-66438000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr7:66433200-66458600	Weak transcription	Right Atrium	heart

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