Variant report

Variant	rs1765280
Chromosome Location	chr1:155824780-155824781
allele	A/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	chr1:155824454-155824902	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:155823442..155829143-chr1:155879989..155882670,6	MCF-7	breast:
2	chr1:155821775..155825361-chr1:155825507..155828654,6	MCF-7	breast:
3	chr1:155656761..155658571-chr1:155822378..155824933,2	K562	blood:

Variant related genes	Relation type
GON4L	TF binding region
SYT11	TF binding region
ENSG00000116580	Chromatin interaction
ENSG00000143622	Chromatin interaction
ENSG00000132676	Chromatin interaction
ENSG00000163374	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs11264417	0.83[AFR][1000 genomes]
rs1621690	0.83[AFR][1000 genomes]
rs1627630	0.99[AFR][1000 genomes]
rs1749412	0.97[AFR][1000 genomes]
rs1749413	0.89[AFR][1000 genomes]
rs1749414	0.97[AFR][1000 genomes]
rs1749420	0.89[AFR][1000 genomes]
rs1749422	0.89[AFR][1000 genomes]
rs1756242	0.89[AFR][1000 genomes]
rs1765281	1.00[AMR][1000 genomes]
rs1765283	0.83[AFR][1000 genomes]
rs1765286	0.84[AFR][1000 genomes]
rs1886618	0.96[AFR][1000 genomes]
rs2481623	0.89[AFR][1000 genomes]
rs2485470	0.87[AFR][1000 genomes]
rs2485472	0.97[AFR][1000 genomes]
rs2885676	0.96[AFR][1000 genomes]
rs348184	0.81[AFR][1000 genomes]
rs4581273	0.96[AFR][1000 genomes]
rs6427290	0.96[AFR][1000 genomes]
rs6688399	0.81[AFR][1000 genomes]
rs708607	0.89[AFR][1000 genomes]
rs708609	0.87[AFR][1000 genomes]
rs708613	0.89[AFR][1000 genomes]
rs822011	0.81[AFR][1000 genomes]
rs822013	0.94[AFR][1000 genomes]
rs822014	0.87[AFR][1000 genomes]
rs822017	0.89[AFR][1000 genomes]
rs822021	0.89[AFR][1000 genomes]
rs822023	0.89[AFR][1000 genomes]
rs822024	0.87[AFR][1000 genomes]
rs822027	0.83[AFR][1000 genomes]
rs822479	0.92[AFR][1000 genomes]
rs822481	0.92[AFR][1000 genomes]
rs822483	0.94[AFR][1000 genomes]
rs822485	0.89[AFR][1000 genomes]
rs822487	0.98[AFR][1000 genomes]
rs822492	0.90[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs822496	0.96[AFR][1000 genomes]
rs822498	0.96[AFR][1000 genomes]
rs822500	1.00[ASN][1000 genomes]
rs822521	0.87[AFR][1000 genomes]
rs822524	0.84[AFR][1000 genomes]
rs866603	0.98[AFR][1000 genomes]
rs9427227	0.81[AFR][1000 genomes]
rs9427229	0.81[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33869	chr1:155223283-155917961	Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	187 gene(s)	inside rSNPs	diseases
2	esv3423892	chr1:155664084-155901487	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv1003170	chr1:155762204-155836564	Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Active TSS Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv916198	chr1:155804210-156403997	Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	428 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:155792200-155826000	Weak transcription	Stomach Mucosa	stomach
2	chr1:155792400-155826600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:155803800-155826000	Weak transcription	Right Atrium	heart
4	chr1:155808000-155826000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr1:155810000-155825200	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr1:155810400-155825400	Strong transcription	Fetal Stomach	stomach
7	chr1:155810600-155825400	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr1:155811400-155825000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr1:155812400-155825400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr1:155812800-155825400	Strong transcription	Fetal Thymus	thymus
11	chr1:155813000-155825400	Strong transcription	Thymus	Thymus
12	chr1:155813200-155826200	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr1:155813600-155826200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr1:155813800-155826000	Weak transcription	Right Ventricle	heart
15	chr1:155815200-155825400	Strong transcription	Fetal Intestine Small	intestine
16	chr1:155815200-155825800	Weak transcription	Fetal Heart	heart
17	chr1:155815800-155826000	Weak transcription	Psoas Muscle	Psoas
18	chr1:155817200-155825400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr1:155817200-155825600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr1:155818200-155825200	Strong transcription	Primary B cells from peripheral blood	blood
21	chr1:155818400-155825000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr1:155819400-155825400	Strong transcription	HUES64 Cell Line	embryonic stem cell
23	chr1:155819400-155825400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr1:155819400-155825600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr1:155819600-155825400	Strong transcription	HUES6 Cell Line	embryonic stem cell
26	chr1:155819600-155825400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr1:155819800-155824800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr1:155819800-155825000	Strong transcription	Osteobl	bone
29	chr1:155819800-155825400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr1:155819800-155825400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr1:155819800-155825400	Strong transcription	Liver	Liver
32	chr1:155819800-155825600	Strong transcription	HUES48 Cell Line	embryonic stem cell
33	chr1:155820000-155824800	Strong transcription	Adipose Nuclei	Adipose
34	chr1:155820000-155825200	Strong transcription	Placenta	Placenta
35	chr1:155820000-155825400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr1:155820000-155825400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
37	chr1:155820000-155825400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
38	chr1:155820200-155824800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr1:155820200-155824800	Strong transcription	Left Ventricle	heart
40	chr1:155820200-155825000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr1:155820200-155825400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr1:155820200-155825400	Strong transcription	Primary hematopoietic stem cells	blood
43	chr1:155820200-155825400	Strong transcription	Rectal Mucosa Donor 29	rectum
44	chr1:155820400-155824800	Strong transcription	Duodenum Mucosa	Duodenum
45	chr1:155820400-155825000	Strong transcription	Primary T cells from cord blood	blood
46	chr1:155820400-155825200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr1:155820400-155825200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr1:155820600-155825400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr1:155820600-155825600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr1:155820800-155824800	Strong transcription	Lung	lung

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