Variant report

Variant	rs73078729
Chromosome Location	chr7:27754543-27754544
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:27746088..27747969-chr7:27753217..27755020,2	MCF-7	breast:
2	chr7:27702223..27704529-chr7:27754263..27757041,2	K562	blood:
3	chr7:27754406..27757331-chr7:27767738..27770016,2	K562	blood:
4	chr7:27754519..27756508-chr7:27757557..27759836,2	K562	blood:
5	chr7:27737615..27739453-chr7:27754350..27756193,2	MCF-7	breast:
6	chr7:27747506..27749954-chr7:27752851..27754917,2	K562	blood:

Variant related genes	Relation type
ENSG00000106049	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10281008	0.89[EUR][1000 genomes]
rs10486556	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10951178	0.86[EUR][1000 genomes]
rs10951180	0.82[EUR][1000 genomes]
rs10951181	0.82[EUR][1000 genomes]
rs11761430	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11761467	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11763610	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11763861	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11765837	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11768570	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11769157	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17155691	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17155744	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17155797	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17155802	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17155863	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17611272	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17684444	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17692264	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2237344	0.82[EUR][1000 genomes]
rs2285929	0.89[EUR][1000 genomes]
rs56172733	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56406884	1.00[AFR][1000 genomes]
rs62449628	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62449630	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62449641	0.86[EUR][1000 genomes]
rs62451066	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62451068	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62451069	0.82[EUR][1000 genomes]
rs62451070	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62451071	0.89[EUR][1000 genomes]
rs62454809	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6979972	0.83[EUR][1000 genomes]
rs73075305	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73075333	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73076944	1.00[AFR][1000 genomes]
rs73078746	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73078762	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs739900	0.89[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949025	chr7:27578167-28075172	Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 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	chr7:27749400-27755000	Weak transcription	Small Intestine	intestine
2	chr7:27751200-27756800	Enhancers	HepG2	liver
3	chr7:27751400-27755600	Enhancers	Fetal Intestine Large	intestine
4	chr7:27751400-27756400	Enhancers	Fetal Intestine Small	intestine
5	chr7:27753600-27755200	Enhancers	Duodenum Mucosa	Duodenum
6	chr7:27753800-27755200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr7:27753800-27755400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr7:27754000-27754800	Enhancers	Gastric	stomach
9	chr7:27754000-27755400	Enhancers	Osteobl	bone
10	chr7:27754000-27756600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr7:27754200-27754600	Flanking Active TSS	HUVEC	blood vessel
12	chr7:27754200-27755200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr7:27754200-27755200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr7:27754200-27755200	Enhancers	NH-A	brain
15	chr7:27754200-27755600	Enhancers	Stomach Mucosa	stomach
16	chr7:27754400-27754800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
17	chr7:27754400-27755000	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr7:27754400-27755000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr7:27754400-27755000	Enhancers	Brain Anterior Caudate	brain
20	chr7:27754400-27755000	Enhancers	Brain Substantia Nigra	brain
21	chr7:27754400-27755000	Enhancers	Fetal Lung	lung
22	chr7:27754400-27755200	Enhancers	Brain Angular Gyrus	brain
23	chr7:27754400-27755200	Enhancers	HMEC	breast
24	chr7:27754400-27755400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr7:27754400-27755800	Enhancers	Brain Hippocampus Middle	brain

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