Variant report

Variant	rs3792747
Chromosome Location	chr5:95767920-95767921
allele	C/T
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	YY1	chr5:95767593-95768631	H1-hESC	embryonic stem cell:	n/a	chr5:95768126-95768136
2	POLR2A	chr5:95767250-95769273	H1-neurons	neurons:	n/a	n/a
3	MAX	chr5:95767868-95768644	H1-hESC	embryonic stem cell:	n/a	chr5:95768103-95768112
4	EBF1	chr5:95767250-95768734	GM12878	blood:	n/a	chr5:95767421-95767432 chr5:95768521-95768534 chr5:95768523-95768532 chr5:95768522-95768532 chr5:95767915-95767925 chr5:95767637-95767646
5	CTBP2	chr5:95767906-95769073	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr5:95767804-95767981	H1-hESC	embryonic stem cell:	n/a	n/a
7	REST	chr5:95767776-95769193	U87	brain:	n/a	chr5:95768439-95768447
8	REST	chr5:95766595-95770523	H1-neurons	neurons:	n/a	chr5:95770015-95770035 chr5:95770015-95770035 chr5:95768439-95768447 chr5:95770015-95770029 chr5:95770031-95770040
9	POLR2A	chr5:95767272-95768691	H1-hESC	embryonic stem cell:	n/a	n/a
10	REST	chr5:95767801-95769179	U87	brain:	n/a	chr5:95768439-95768447
11	POLR2A	chr5:95767147-95768313	U87	brain:	n/a	n/a
12	TAF1	chr5:95767900-95768547	H1-hESC	embryonic stem cell:	n/a	n/a
13	REST	chr5:95767832-95769093	PFSK-1	brain:	n/a	chr5:95768439-95768447
14	POLR2A	chr5:95767130-95769312	H1-neurons	neurons:	n/a	n/a
15	ZNF143	chr5:95767842-95768926	H1-hESC	embryonic stem cell:	n/a	n/a
16	POLR2A	chr5:95767141-95768313	U87	brain:	n/a	n/a
17	SIN3A	chr5:95767139-95769270	H1-hESC	embryonic stem cell:	n/a	n/a
18	REST	chr5:95767884-95768158	SK-N-SH	brain:	n/a	n/a
19	YY1	chr5:95767818-95768637	H1-hESC	embryonic stem cell:	n/a	chr5:95768126-95768136
20	E2F6	chr5:95766891-95768407	H1-hESC	embryonic stem cell:	n/a	chr5:95767511-95767528 chr5:95767517-95767525 chr5:95767511-95767528 chr5:95767514-95767525 chr5:95767517-95767525 chr5:95767764-95767778 chr5:95767511-95767528 chr5:95767517-95767525 chr5:95767518-95767525

Variant related genes	Relation type
PCSK1	TF binding region

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs183784	1.00[YRI][hapmap]
rs3762984	1.00[CEU][hapmap];0.84[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4869134	0.82[CEU][hapmap];0.85[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030444	chr5:95353620-95995619	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
2	nsv537810	chr5:95353620-95995619	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
3	nsv1024964	chr5:95742124-96065492	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
4	nsv537811	chr5:95742124-96065492	Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
5	nsv1026484	chr5:95759910-95961518	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:95765000-95770400	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr5:95766800-95768000	Flanking Active TSS	NH-A	brain
3	chr5:95766800-95768400	Bivalent Enhancer	Liver	Liver
4	chr5:95766800-95769000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
5	chr5:95766800-95769200	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
6	chr5:95766800-95770200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
7	chr5:95767000-95768000	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
8	chr5:95767000-95768400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr5:95767000-95769200	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr5:95767200-95768000	Active TSS	Brain Anterior Caudate	brain
11	chr5:95767200-95768000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
12	chr5:95767200-95768000	Flanking Bivalent TSS/Enh	GM12878-XiMat	blood
13	chr5:95767200-95768200	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr5:95767200-95768600	Bivalent Enhancer	Fetal Muscle Leg	muscle
15	chr5:95767200-95768800	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr5:95767200-95769000	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr5:95767200-95769000	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
18	chr5:95767200-95769000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr5:95767200-95769200	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
20	chr5:95767200-95769200	Bivalent/Poised TSS	Fetal Intestine Small	intestine
21	chr5:95767200-95769400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
22	chr5:95767200-95769400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
23	chr5:95767200-95769400	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr5:95767400-95768000	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
25	chr5:95767400-95768200	Flanking Bivalent TSS/Enh	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr5:95767400-95768200	Flanking Bivalent TSS/Enh	Muscle Satellite Cultured Cells	--
27	chr5:95767400-95768200	ZNF genes & repeats	Pancreas	Pancrea
28	chr5:95767400-95768200	Bivalent Enhancer	HMEC	breast
29	chr5:95767400-95768600	Active TSS	H9 Cell Line	embryonic stem cell
30	chr5:95767400-95768600	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
31	chr5:95767400-95769000	Enhancers	Gastric	stomach
32	chr5:95767400-95769200	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr5:95767400-95769200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
34	chr5:95767400-95769400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
35	chr5:95767400-95769400	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr5:95767400-95770200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
37	chr5:95767600-95768000	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
38	chr5:95767600-95768000	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
39	chr5:95767600-95768000	Bivalent Enhancer	Right Ventricle	heart
40	chr5:95767600-95768000	Flanking Bivalent TSS/Enh	NHDF-Ad	bronchial
41	chr5:95767600-95768200	Flanking Bivalent TSS/Enh	Brain Substantia Nigra	brain
42	chr5:95767600-95768400	ZNF genes & repeats	Lung	lung
43	chr5:95767600-95768400	Bivalent/Poised TSS	HSMMtube	muscle
44	chr5:95767600-95768600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr5:95767600-95768800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr5:95767600-95768800	Flanking Bivalent TSS/Enh	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr5:95767600-95768800	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
48	chr5:95767600-95768800	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
49	chr5:95767600-95769000	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
50	chr5:95767600-95769000	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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