Variant report

Variant	rs12984978
Chromosome Location	chr19:38705928-38705929
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:38701793..38708887-chr19:38709877..38716652,10	K562	blood:
2	chr19:38704600..38706484-chr19:38706623..38709173,2	K562	blood:
3	chr19:38705043..38707659-chr19:38719005..38721797,2	K562	blood:
4	chr19:38704545..38706333-chr19:38863890..38866208,2	K562	blood:

Variant related genes	Relation type
ENSG00000011332	Chromatin interaction
ENSG00000099341	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs2255456	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2304175	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2384780	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7256404	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949296	chr19:38034722-38763140	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv833821	chr19:38629937-38756792	Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv911657	chr19:38655449-38753786	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:38685400-38713800	Weak transcription	HepG2	liver
2	chr19:38697400-38706800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr19:38701400-38714600	Weak transcription	Right Atrium	heart
4	chr19:38701800-38713200	Weak transcription	NHEK	skin
5	chr19:38702600-38708800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr19:38702600-38709200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr19:38702600-38713600	Weak transcription	Fetal Lung	lung
8	chr19:38702600-38714200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr19:38702600-38714400	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr19:38702800-38707600	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr19:38702800-38708000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr19:38702800-38709000	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr19:38702800-38709000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr19:38702800-38712800	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr19:38702800-38714200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr19:38702800-38714400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr19:38703400-38706800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
18	chr19:38704800-38706600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr19:38704800-38707400	Weak transcription	HSMMtube	muscle
20	chr19:38705000-38706600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr19:38705000-38707400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr19:38705000-38707600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr19:38705000-38708000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr19:38705000-38714400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr19:38705000-38714400	Weak transcription	Brain Substantia Nigra	brain
26	chr19:38705200-38706800	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr19:38705200-38707200	Weak transcription	Fetal Muscle Leg	muscle
28	chr19:38705200-38707400	Weak transcription	A549	lung
29	chr19:38705200-38712800	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr19:38705400-38706200	Weak transcription	Brain Germinal Matrix	brain
31	chr19:38705400-38706400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr19:38705400-38706400	Weak transcription	Brain Anterior Caudate	brain
33	chr19:38705400-38706400	Weak transcription	Fetal Brain Female	brain
34	chr19:38705400-38706400	Weak transcription	Fetal Muscle Trunk	muscle
35	chr19:38705400-38706600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr19:38705400-38706600	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr19:38705400-38706600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr19:38705400-38706600	Weak transcription	Fetal Brain Male	brain
39	chr19:38705400-38706800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr19:38705400-38707400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr19:38705400-38707400	Weak transcription	Brain Angular Gyrus	brain
42	chr19:38705400-38707400	Weak transcription	HSMM	muscle
43	chr19:38705400-38707400	Weak transcription	Osteobl	bone
44	chr19:38705400-38707600	Weak transcription	Brain Cingulate Gyrus	brain
45	chr19:38705400-38707800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr19:38705400-38707800	Strong transcription	Fetal Stomach	stomach
47	chr19:38705400-38709000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr19:38705400-38709000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr19:38705400-38709000	Weak transcription	Brain Hippocampus Middle	brain
50	chr19:38705400-38713800	Weak transcription	Muscle Satellite Cultured Cells	--

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