Variant report

Variant	rs73101483
Chromosome Location	chr7:47816022-47816023
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	chr7:47814103..47816415-chr7:47816480..47819252,2	K562	blood:
2	chr7:47789337..47791664-chr7:47815360..47817822,2	MCF-7	breast:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11760488	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11760507	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11773708	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17545279	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17627715	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17627805	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs57776866	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73103416	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73103428	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026223	chr7:47560728-48243287	Genic enhancers Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv888003	chr7:47694270-47907214	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv1018608	chr7:47708525-47831535	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
4	nsv1022906	chr7:47709936-47831535	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
5	nsv1015163	chr7:47734913-47832389	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
6	nsv538831	chr7:47734913-47832389	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
7	nsv869585	chr7:47765428-48151324	Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
8	nsv830990	chr7:47767540-47837584	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:47812800-47817400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr7:47813000-47817400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr7:47813000-47817400	Weak transcription	Fetal Intestine Large	intestine
4	chr7:47813400-47817400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr7:47814400-47816200	Enhancers	Liver	Liver
6	chr7:47814400-47816200	Enhancers	HSMMtube	muscle
7	chr7:47814400-47816400	Enhancers	Muscle Satellite Cultured Cells	--
8	chr7:47814400-47816400	Enhancers	HSMM	muscle
9	chr7:47814400-47823200	Enhancers	HepG2	liver
10	chr7:47814800-47817600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr7:47815000-47817400	Weak transcription	NH-A	brain
12	chr7:47815000-47818600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr7:47815000-47821600	Weak transcription	Aorta	Aorta
14	chr7:47815200-47816400	Enhancers	A549	lung
15	chr7:47815600-47816400	Enhancers	NHEK	skin
16	chr7:47815800-47816600	Enhancers	HMEC	breast
17	chr7:47815800-47818800	Weak transcription	Osteobl	bone
18	chr7:47815800-47821600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr7:47815800-47821600	Weak transcription	NHLF	lung
20	chr7:47816000-47816200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr7:47816000-47816200	Enhancers	Right Atrium	heart
22	chr7:47816000-47816400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr7:47816000-47816400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr7:47816000-47816400	Enhancers	Fetal Intestine Small	intestine

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