Variant report

Variant	rs36078694
Chromosome Location	chr19:51796459-51796460
allele	A/G
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
ENSG00000268520	Chromatin interaction
ENSG00000160318	Chromatin interaction
ENSG00000105379	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs12459426	0.80[EUR][1000 genomes]
rs12463197	0.80[EUR][1000 genomes]
rs2455070	0.80[EUR][1000 genomes]
rs8103896	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs8107576	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[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

No data

Chromatin state (count:29 , 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	chr19:51795800-51796800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
12	chr19:51796000-51796800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
13	chr19:51796000-51796800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr19:51796000-51796800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
15	chr19:51796000-51796800	Enhancers	Brain Cingulate Gyrus	brain
16	chr19:51796000-51796800	Enhancers	Fetal Muscle Leg	muscle
17	chr19:51796000-51797200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr19:51796000-51799200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr19:51796000-51799200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
20	chr19:51796000-51799400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
21	chr19:51796000-51799800	Enhancers	H9 Cell Line	embryonic stem cell
22	chr19:51796200-51796800	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr19:51796200-51796800	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr19:51796200-51796800	Enhancers	Brain Inferior Temporal Lobe	brain
25	chr19:51796200-51797200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr19:51796400-51796600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr19:51796400-51796600	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr19:51796400-51796800	Enhancers	Brain Substantia Nigra	brain
29	chr19:51796400-51797400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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