Variant report

Variant	rs12904292
Chromosome Location	chr15:82405499-82405500
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	chr15:82405061..82407968-chr15:82415699..82418455,2	K562	blood:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs12898322	0.86[EUR][1000 genomes]
rs12904246	0.84[AMR][1000 genomes]
rs12907385	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12913622	0.84[AMR][1000 genomes]
rs12916424	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17269141	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[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	nsv833067	chr15:82234980-82450485	Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	esv2422504	chr15:82293064-82426400	Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv570242	chr15:82370616-82409727	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv977845	chr15:82398263-82412461	Enhancers Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:82396400-82406000	Weak transcription	Right Atrium	heart
2	chr15:82398200-82414200	Weak transcription	NHLF	lung
3	chr15:82399000-82452200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr15:82399400-82413400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr15:82399400-82413400	Weak transcription	HMEC	breast
6	chr15:82399600-82413400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr15:82399600-82413600	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr15:82401600-82405600	Weak transcription	HSMM	muscle
9	chr15:82402400-82416600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr15:82403800-82406200	Enhancers	NHDF-Ad	bronchial
11	chr15:82404000-82405800	Enhancers	Fetal Brain Male	brain
12	chr15:82404000-82406000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr15:82404600-82405600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr15:82404800-82406000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr15:82404800-82406200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr15:82404800-82416600	Weak transcription	Spleen	Spleen
17	chr15:82405000-82406600	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr15:82405200-82406200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr15:82405200-82406200	Enhancers	HSMMtube	muscle
20	chr15:82405200-82406400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr15:82405200-82406600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr15:82405200-82406800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr15:82405200-82415000	Weak transcription	Fetal Stomach	stomach
24	chr15:82405400-82405600	Enhancers	Fetal Muscle Leg	muscle
25	chr15:82405400-82405800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr15:82405400-82409000	Weak transcription	Fetal Brain Female	brain

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