Variant report

Variant	rs10414689
Chromosome Location	chr19:51796299-51796300
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	chr19:51795590..51798270-chr19:52046982..52049972,2	K562	blood:
2	chr19:51793922..51796565-chr19:51868661..51871294,2	K562	blood:

Variant related genes	Relation type
ENSG00000160318	Chromatin interaction
ENSG00000105379	Chromatin interaction
ENSG00000268520	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10402797	1.00[CEU][hapmap]
rs10406897	1.00[CEU][hapmap]
rs10412123	1.00[CEU][hapmap]
rs10412214	1.00[CEU][hapmap]
rs11084063	1.00[CEU][hapmap]
rs11668174	1.00[CEU][hapmap]
rs11672446	1.00[CEU][hapmap]
rs1501449	1.00[CEU][hapmap]
rs28735879	1.00[MEX][hapmap]
rs73555287	1.00[EUR][1000 genomes]
rs73615906	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1066308	chr19:51680133-52103974	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv544049	chr19:51680133-52103974	Bivalent Enhancer Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Palmitic acid (16:0) plasma levels	23362303	GWAS catalog

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:51795400-51796800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr19:51795400-51797200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr19:51795400-51798800	Weak transcription	Right Atrium	heart
4	chr19:51795400-51799600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr19:51795400-51799800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr19:51795600-51796800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr19:51795600-51797200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr19:51795600-51797400	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr19:51795600-51799800	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr19:51795600-51800000	Enhancers	H1 Cell Line	embryonic stem cell
11	chr19:51795800-51796400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
12	chr19:51795800-51796800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
13	chr19:51796000-51796400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
14	chr19:51796000-51796800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
15	chr19:51796000-51796800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr19:51796000-51796800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
17	chr19:51796000-51796800	Enhancers	Brain Cingulate Gyrus	brain
18	chr19:51796000-51796800	Enhancers	Fetal Muscle Leg	muscle
19	chr19:51796000-51797200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr19:51796000-51799200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr19:51796000-51799200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
22	chr19:51796000-51799400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
23	chr19:51796000-51799800	Enhancers	H9 Cell Line	embryonic stem cell
24	chr19:51796200-51796400	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
25	chr19:51796200-51796800	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr19:51796200-51796800	Enhancers	Cortex derived primary cultured neurospheres	brain
27	chr19:51796200-51796800	Enhancers	Brain Inferior Temporal Lobe	brain
28	chr19:51796200-51797200	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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