Variant report

Variant	rs10240077
Chromosome Location	chr7:48284602-48284603
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	chr7:48279225..48282090-chr7:48283159..48287155,3	K562	blood:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10260059	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10278121	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11977206	0.89[ASN][1000 genomes]
rs13241768	0.87[EUR][1000 genomes]
rs17712299	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28701511	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9656611	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv470221	chr7:47917495-48354363	Strong transcription Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv464442	chr7:47917495-48354820	Genic enhancers Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv606893	chr7:47917495-48354820	Flanking Active TSS Strong transcription Genic enhancers Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv1027414	chr7:48117684-48438543	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv1033738	chr7:48143988-48349357	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv817336	chr7:48238233-48563988	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv1022980	chr7:48243227-48567060	Weak transcription Enhancers Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv538833	chr7:48243227-48567060	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv1022578	chr7:48244414-48584664	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv1023575	chr7:48244414-48586685	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
11	nsv1015183	chr7:48244414-48588598	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:48277600-48290400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:48279800-48289200	Enhancers	Primary neutrophils fromperipheralblood	blood
3	chr7:48283000-48286000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr7:48283400-48286400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr7:48283600-48286000	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr7:48283600-48286200	Enhancers	Primary hematopoietic stem cells	blood
7	chr7:48283800-48286600	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr7:48284000-48286000	Enhancers	HMEC	breast
9	chr7:48284000-48286200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr7:48284000-48286200	Enhancers	Monocytes-CD14+_RO01746	blood
11	chr7:48284200-48284800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr7:48284200-48284800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr7:48284200-48284800	Enhancers	Brain Anterior Caudate	brain
14	chr7:48284200-48284800	Enhancers	Brain Substantia Nigra	brain
15	chr7:48284200-48286000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr7:48284200-48286600	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr7:48284400-48284800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr7:48284400-48284800	Flanking Active TSS	HUVEC	blood vessel
19	chr7:48284400-48284800	Flanking Active TSS	NH-A	brain
20	chr7:48284400-48285000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr7:48284400-48285000	Enhancers	Osteobl	bone
22	chr7:48284400-48285200	Enhancers	Brain Germinal Matrix	brain
23	chr7:48284400-48285600	Enhancers	Brain Hippocampus Middle	brain
24	chr7:48284400-48285800	Enhancers	Adipose Nuclei	Adipose
25	chr7:48284600-48284800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr7:48284600-48284800	Bivalent Enhancer	GM12878-XiMat	blood
27	chr7:48284600-48284800	Enhancers	NHLF	lung
28	chr7:48284600-48285000	Enhancers	Fetal Lung	lung
29	chr7:48284600-48285800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr7:48284600-48286400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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