Variant report

Variant	rs10264433
Chromosome Location	chr7:66449511-66449512
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:66447145..66450086-chr7:66451796..66453341,2	K562	blood:
2	chr7:66310807..66313244-chr7:66448820..66450934,2	MCF-7	breast:
3	chr7:66424823..66427121-chr7:66447406..66450272,2	K562	blood:
4	chr7:66448220..66451138-chr7:66454744..66456715,3	K562	blood:
5	chr7:66449461..66454980-chr7:66457220..66462076,6	K562	blood:

Variant related genes	Relation type
ENSG00000198874	Chromatin interaction
ENSG00000126524	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10156059	0.81[ASN][1000 genomes]
rs10228964	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10247815	0.80[ASN][1000 genomes]
rs10264555	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10266792	0.88[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs10280816	0.88[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs13437994	0.88[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs17680708	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17748115	0.88[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs17748222	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28472679	0.88[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs28501161	0.88[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs28641990	0.88[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs28675035	0.88[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs28817095	0.88[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs3800818	0.88[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs59693594	0.88[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs6965680	0.88[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs6971508	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs71526586	0.91[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs73143921	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs73145911	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs73145924	0.88[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs73151646	0.88[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs73151663	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73151665	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7785883	0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs7809359	0.83[ASN][1000 genomes]
rs7809535	0.83[ASN][1000 genomes]
rs868960	0.91[AMR][1000 genomes];0.87[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	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
4	nsv966836	chr7:66438146-66457576	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10264433	GS1-124K5.12	cis	Adipose Subcutaneous	GTEx

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:66420600-66459200	Weak transcription	Psoas Muscle	Psoas
2	chr7:66426400-66453200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr7:66433200-66458600	Weak transcription	Right Atrium	heart
4	chr7:66444800-66456800	Weak transcription	Stomach Mucosa	stomach
5	chr7:66445800-66451600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr7:66445800-66452800	Weak transcription	Duodenum Mucosa	Duodenum
7	chr7:66446000-66453200	Weak transcription	GM12878-XiMat	blood
8	chr7:66446200-66451800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr7:66446200-66453600	Weak transcription	Fetal Intestine Small	intestine
10	chr7:66446600-66459400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr7:66447000-66453000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr7:66448400-66450800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr7:66448400-66452200	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr7:66448800-66452000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr7:66448800-66452000	Weak transcription	Adipose Nuclei	Adipose
16	chr7:66449400-66451600	Weak transcription	Fetal Thymus	thymus
17	chr7:66449400-66451600	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr7:66449400-66451800	Weak transcription	Primary B cells from peripheral blood	blood
19	chr7:66449400-66452200	Weak transcription	Colon Smooth Muscle	Colon
20	chr7:66449400-66453200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr7:66449400-66459200	Weak transcription	HepG2	liver

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