Variant report

Variant	rs13241948
Chromosome Location	chr7:127855012-127855013
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	chr7:127848604..127851949-chr7:127853770..127856964,3	K562	blood:
2	chr7:127854529..127856623-chr7:127857622..127859528,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LEP-2	chr7:127846774-127858291	NONHSAT123172

Extended variants
information (count: 11 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10487505	0.80[ASN][1000 genomes]
rs2167289	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2402883	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs36124827	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6979832	0.83[ASN][1000 genomes]
rs791600	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs791601	0.90[AMR][1000 genomes];0.95[EUR][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	nsv1022385	chr7:127246656-127971194	Weak transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv539120	chr7:127246656-127971194	Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	esv33413	chr7:127800064-127929303	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
4	nsv5945	chr7:127852004-127880768	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127844000-127875600	Weak transcription	Right Atrium	heart
2	chr7:127850000-127867400	Weak transcription	Spleen	Spleen
3	chr7:127850400-127856000	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr7:127852200-127855200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr7:127852400-127855200	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr7:127852400-127855200	Weak transcription	HMEC	breast
7	chr7:127852400-127855400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr7:127852400-127857000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr7:127853200-127855600	Weak transcription	Brain Cingulate Gyrus	brain
10	chr7:127853800-127855200	Weak transcription	Placenta	Placenta
11	chr7:127854600-127857000	Enhancers	Primary neutrophils fromperipheralblood	blood
12	chr7:127854600-127857000	Enhancers	Monocytes-CD14+_RO01746	blood
13	chr7:127854600-127857800	Enhancers	HSMM	muscle
14	chr7:127854800-127855400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr7:127854800-127856600	Enhancers	NHLF	lung
16	chr7:127854800-127858000	Enhancers	HSMMtube	muscle
17	chr7:127854800-127858800	Enhancers	Osteobl	bone
18	chr7:127855000-127855200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
19	chr7:127855000-127855400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr7:127855000-127856000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr7:127855000-127856200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr7:127855000-127856200	Enhancers	Brain Anterior Caudate	brain
23	chr7:127855000-127856200	Enhancers	Brain Inferior Temporal Lobe	brain
24	chr7:127855000-127856200	Flanking Active TSS	NHDF-Ad	bronchial
25	chr7:127855000-127856400	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr7:127855000-127858800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr7:127855000-127858800	Enhancers	Adipose Nuclei	Adipose

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