Variant report

Variant	rs11878664
Chromosome Location	chr19:51839002-51839003
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:51838862-51839061	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:51835272..51839156-chr19:51839989..51844712,7	K562	blood:

Variant related genes	Relation type
ENSG00000267905	TF binding region
ENSG00000186806	Chromatin interaction
ENSG00000267905	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10414211	0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10419062	0.80[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10424579	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11084068	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12463376	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2011612	0.85[ASN][1000 genomes]
rs28668475	0.99[ASN][1000 genomes]
rs34380065	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6509528	0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7259266	0.99[ASN][1000 genomes]
rs8105710	0.80[EUR][1000 genomes];0.99[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	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
3	esv1813225	chr19:51821612-51888813	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:51831000-51841200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr19:51831400-51841800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr19:51831600-51841800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr19:51832200-51841600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr19:51832400-51841800	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr19:51833000-51842000	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr19:51833600-51842000	Weak transcription	Brain Substantia Nigra	brain
8	chr19:51834200-51842200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr19:51834400-51841800	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr19:51834600-51841800	Weak transcription	Fetal Intestine Large	intestine
11	chr19:51834800-51841400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr19:51834800-51841800	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr19:51834800-51842000	Weak transcription	Brain Cingulate Gyrus	brain
14	chr19:51834800-51842200	Weak transcription	Gastric	stomach
15	chr19:51834800-51842200	Weak transcription	Pancreas	Pancrea
16	chr19:51835000-51841800	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr19:51835000-51841800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr19:51835000-51841800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr19:51835000-51842200	Weak transcription	Left Ventricle	heart
20	chr19:51835600-51841200	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr19:51835600-51841800	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr19:51835600-51841800	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr19:51835600-51841800	Weak transcription	Stomach Smooth Muscle	stomach
24	chr19:51835800-51841800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr19:51835800-51841800	Weak transcription	Liver	Liver
26	chr19:51835800-51841800	Weak transcription	Fetal Intestine Small	intestine
27	chr19:51835800-51842200	Weak transcription	Aorta	Aorta
28	chr19:51836000-51841000	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr19:51836000-51841800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr19:51836000-51842000	Weak transcription	Brain Hippocampus Middle	brain
31	chr19:51836000-51842000	Weak transcription	Ovary	ovary
32	chr19:51836200-51842000	Weak transcription	HepG2	liver
33	chr19:51836600-51841600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr19:51837400-51839200	Enhancers	Cortex derived primary cultured neurospheres	brain
35	chr19:51837400-51839600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr19:51837400-51841000	Weak transcription	Fetal Stomach	stomach
37	chr19:51837600-51840400	Weak transcription	Esophagus	oesophagus
38	chr19:51837600-51841000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr19:51837600-51841800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr19:51837600-51841800	Weak transcription	A549	lung
41	chr19:51837600-51842200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr19:51838600-51841400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr19:51838800-51841800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr19:51838800-51841800	Weak transcription	Brain Germinal Matrix	brain

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