Variant report

Variant	rs6951284
Chromosome Location	chr7:41228193-41228194
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:41228185..41230237-chr7:41263840..41265939,2	MCF-7	breast:

Extended variants
information (count: 29 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10214983	0.94[AMR][1000 genomes]
rs10215204	0.87[AMR][1000 genomes]
rs10225596	0.90[AMR][1000 genomes]
rs10228281	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10237505	0.87[AMR][1000 genomes]
rs10245806	0.90[AMR][1000 genomes]
rs10245865	0.90[AMR][1000 genomes]
rs10260526	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10266295	0.85[AMR][1000 genomes]
rs17691173	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17691214	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28370881	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28534868	0.85[AMR][1000 genomes]
rs28537692	0.94[AMR][1000 genomes]
rs28662380	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4296946	1.00[ASN][1000 genomes]
rs58773259	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58811351	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59159806	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59455753	1.00[ASN][1000 genomes]
rs60400948	0.80[AFR][1000 genomes]
rs60824519	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61187499	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61586765	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73687949	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73687950	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv887989	chr7:41125447-41337044	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1028983	chr7:41165668-41635954	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv534465	chr7:41224437-41443498	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6951284	TBRG4	cis	cerebellum	SCAN

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:41215400-41230400	Weak transcription	Pancreas	Pancrea
2	chr7:41225400-41231000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr7:41226000-41231000	Enhancers	HUVEC	blood vessel
4	chr7:41226400-41230400	Enhancers	Placenta	Placenta
5	chr7:41226400-41230600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr7:41226400-41230800	Enhancers	HMEC	breast
7	chr7:41226400-41231000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr7:41226400-41231000	Enhancers	NHEK	skin
9	chr7:41226600-41228600	Enhancers	Placenta Amnion	Placenta Amnion
10	chr7:41226800-41228600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr7:41226800-41229000	Enhancers	Muscle Satellite Cultured Cells	--
12	chr7:41226800-41229200	Enhancers	NH-A	brain
13	chr7:41226800-41230600	Enhancers	NHLF	lung
14	chr7:41226800-41230800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr7:41226800-41230800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr7:41226800-41231000	Enhancers	NHDF-Ad	bronchial
17	chr7:41227000-41229200	Weak transcription	Aorta	Aorta
18	chr7:41227000-41229400	Weak transcription	Esophagus	oesophagus
19	chr7:41227000-41230200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr7:41227600-41228600	Enhancers	HSMMtube	muscle
21	chr7:41227600-41230600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr7:41227800-41228200	Enhancers	Fetal Lung	lung
23	chr7:41227800-41228400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr7:41227800-41228400	Enhancers	Brain Anterior Caudate	brain
25	chr7:41227800-41228400	Flanking Active TSS	Hela-S3	cervix
26	chr7:41227800-41228600	Enhancers	Fetal Kidney	kidney
27	chr7:41227800-41229000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr7:41227800-41230000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr7:41227800-41231000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr7:41228000-41228200	Enhancers	Osteobl	bone
31	chr7:41228000-41228400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr7:41228000-41228400	Flanking Active TSS	HSMM	muscle
33	chr7:41228000-41228600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr7:41228000-41230000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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