Variant report

Variant	rs1739548
Chromosome Location	chr2:114298832-114298833
allele	C/G
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	chr2:114298681-114299749	PBDE	blood:	n/a	n/a
2	HEY1	chr2:114298743-114299455	K562	blood:	n/a	n/a
3	IRF4	chr2:114298599-114298923	GM12878	blood:	n/a	n/a
4	ZNF384	chr2:114298830-114299011	K562	blood:	n/a	n/a
5	POLR2A	chr2:114298654-114299369	K562	blood:	n/a	n/a
6	MAZ	chr2:114298818-114299619	IMR90	lung:	n/a	n/a
7	POLR2A	chr2:114298731-114298957	A549	lung:	n/a	n/a
8	POU2F2	chr2:114298571-114299059	GM12878	blood:	n/a	n/a
9	UBTF	chr2:114298817-114299635	K562	blood:	n/a	n/a
10	HEY1	chr2:114298619-114299567	K562	blood:	n/a	n/a
11	GATA1	chr2:114298818-114299457	PBDE	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000225398	TF binding region

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs1739555	0.83[ASN][1000 genomes]
rs3982819	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2759085	chr2:114074949-114428678	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	33 gene(s)	inside rSNPs	diseases
2	esv1802875	chr2:114167899-114317895	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv834334	chr2:114175740-114338827	Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv874902	chr2:114179202-114300577	Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv428062	chr2:114251945-114428678	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases
6	esv2757827	chr2:114253780-114428678	Weak transcription Bivalent/Poised TSS Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases
7	nsv963838	chr2:114279549-114310836	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv979256	chr2:114279549-114328595	Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv582714	chr2:114280860-114411190	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
10	nsv979294	chr2:114281305-114310836	Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:114298400-114299600	Active TSS	Rectal Mucosa Donor 29	rectum
2	chr2:114298400-114300000	Active TSS	HSMMtube	muscle
3	chr2:114298600-114299000	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
4	chr2:114298600-114299800	Active TSS	Fetal Lung	lung
5	chr2:114298600-114299800	Active TSS	K562	blood
6	chr2:114298600-114300000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr2:114298600-114300600	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr2:114298600-114301200	Active TSS	NHLF	lung
9	chr2:114298800-114299000	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
10	chr2:114298800-114299000	Bivalent/Poised TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr2:114298800-114299000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr2:114298800-114299000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr2:114298800-114299000	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
14	chr2:114298800-114299000	Bivalent/Poised TSS	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr2:114298800-114299000	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
16	chr2:114298800-114299000	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr2:114298800-114299000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr2:114298800-114299000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr2:114298800-114299000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr2:114298800-114299000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr2:114298800-114299000	Active TSS	Liver	Liver
22	chr2:114298800-114299000	Active TSS	Skeletal Muscle Male	skeletal muscle
23	chr2:114298800-114299000	Bivalent Enhancer	Stomach Mucosa	stomach
24	chr2:114298800-114299000	Active TSS	Thymus	Thymus
25	chr2:114298800-114299000	Enhancers	Spleen	Spleen
26	chr2:114298800-114299000	Active TSS	HMEC	breast
27	chr2:114298800-114299200	Bivalent/Poised TSS	Primary monocytes fromperipheralblood	blood
28	chr2:114298800-114299200	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
29	chr2:114298800-114299200	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
30	chr2:114298800-114299200	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
31	chr2:114298800-114299200	Active TSS	Colonic Mucosa	Colon
32	chr2:114298800-114299200	Bivalent/Poised TSS	Fetal Stomach	stomach
33	chr2:114298800-114299400	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr2:114298800-114299400	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
35	chr2:114298800-114299400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr2:114298800-114299400	Active TSS	Placenta	Placenta
37	chr2:114298800-114299400	Bivalent/Poised TSS	Fetal Thymus	thymus
38	chr2:114298800-114299400	Active TSS	Right Ventricle	heart
39	chr2:114298800-114299600	Flanking Active TSS	Primary hematopoietic stem cells	blood
40	chr2:114298800-114299600	Active TSS	Adipose Nuclei	Adipose
41	chr2:114298800-114299600	Active TSS	Brain Angular Gyrus	brain
42	chr2:114298800-114299600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
43	chr2:114298800-114299800	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr2:114298800-114299800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
45	chr2:114298800-114299800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr2:114298800-114299800	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
47	chr2:114298800-114299800	Active TSS	Primary T cells from cord blood	blood
48	chr2:114298800-114299800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr2:114298800-114299800	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr2:114298800-114299800	Bivalent/Poised TSS	Muscle Satellite Cultured Cells	--

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