Variant report

Variant	rs62021048
Chromosome Location	chr15:92992965-92992966
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17522085	1.00[ASN][1000 genomes]
rs62020974	1.00[ASN][1000 genomes]
rs62021050	1.00[ASN][1000 genomes]
rs62021052	1.00[ASN][1000 genomes]
rs7169995	1.00[ASN][1000 genomes]
rs7170164	1.00[ASN][1000 genomes]
rs74030522	1.00[ASN][1000 genomes]
rs8029064	1.00[ASN][1000 genomes]
rs8032091	1.00[ASN][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	nsv948621	chr15:92688981-93158095	Enhancers Bivalent/Poised TSS ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv1049561	chr15:92758434-93097965	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv1037972	chr15:92804908-93270761	Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
4	nsv904499	chr15:92914795-93472582	Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	163 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:92953400-92997800	Weak transcription	Fetal Brain Male	brain
2	chr15:92957200-93006400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr15:92972000-93011800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr15:92972800-93011400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr15:92973400-93012200	Strong transcription	Brain Germinal Matrix	brain
6	chr15:92973600-92995000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr15:92973600-93006200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr15:92973600-93008800	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr15:92973600-93011400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr15:92973800-93003800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr15:92974200-92998000	Strong transcription	Fetal Brain Female	brain
12	chr15:92977600-92999000	Weak transcription	Fetal Heart	heart
13	chr15:92982400-93011800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
14	chr15:92985800-93006600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr15:92988200-92996000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr15:92989600-93001800	Weak transcription	Fetal Lung	lung
17	chr15:92990000-92995600	Strong transcription	Fetal Muscle Leg	muscle
18	chr15:92990400-92995000	Strong transcription	HUES6 Cell Line	embryonic stem cell
19	chr15:92990600-92995400	Enhancers	NHDF-Ad	bronchial
20	chr15:92990800-92995400	Enhancers	NH-A	brain
21	chr15:92990800-92996000	Enhancers	HSMMtube	muscle
22	chr15:92991600-92993400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr15:92991800-92993800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr15:92991800-93007400	Weak transcription	Fetal Muscle Trunk	muscle
25	chr15:92992000-92993800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr15:92992000-92994400	Weak transcription	Fetal Stomach	stomach
27	chr15:92992000-92995200	Enhancers	HMEC	breast
28	chr15:92992400-92993200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr15:92992400-92994800	Enhancers	NHEK	skin
30	chr15:92992600-92994800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr15:92992600-92995200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr15:92992800-92993600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr15:92992800-92994000	Strong transcription	HSMM	muscle

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