Variant report

Variant	rs11802178
Chromosome Location	chr1:94587764-94587765
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	MAFK	chr1:94587516-94587831	HepG2	liver:	n/a	n/a
2	MAFK	chr1:94587580-94587978	IMR90	lung:	n/a	n/a
3	MAFF	chr1:94587565-94587793	HepG2	liver:	n/a	n/a
4	RCOR1	chr1:94586979-94588661	IMR90	lung:	n/a	n/a
5	FOS	chr1:94587751-94588289	HUVEC	blood vessel:	n/a	chr1:94587937-94587948 chr1:94587938-94587948 chr1:94587938-94587947 chr1:94587938-94587948 chr1:94587940-94587947
6	MAFK	chr1:94587553-94587871	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
ABCA4	TF binding region

Extended variants
information (count: 82 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs10782981	1.00[EUR][1000 genomes]
rs10874845	1.00[EUR][1000 genomes]
rs11800866	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11802887	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11803374	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11803749	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11805161	1.00[EUR][1000 genomes]
rs11806223	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12069536	1.00[EUR][1000 genomes]
rs1318396	1.00[EUR][1000 genomes]
rs1330856	1.00[EUR][1000 genomes]
rs1330858	1.00[EUR][1000 genomes]
rs1330859	1.00[EUR][1000 genomes]
rs1330860	1.00[EUR][1000 genomes]
rs1337857	1.00[EUR][1000 genomes]
rs1411697	1.00[EUR][1000 genomes]
rs1411703	1.00[EUR][1000 genomes]
rs1571645	1.00[EUR][1000 genomes]
rs1617363	1.00[EUR][1000 genomes]
rs1687921	1.00[EUR][1000 genomes]
rs1687922	1.00[EUR][1000 genomes]
rs1687923	1.00[EUR][1000 genomes]
rs1687925	1.00[EUR][1000 genomes]
rs1687926	1.00[EUR][1000 genomes]
rs1687934	1.00[EUR][1000 genomes]
rs1687955	1.00[EUR][1000 genomes]
rs1687958	1.00[EUR][1000 genomes]
rs1687967	1.00[EUR][1000 genomes]
rs17111347	1.00[EUR][1000 genomes]
rs1756247	1.00[EUR][1000 genomes]
rs1756256	1.00[EUR][1000 genomes]
rs1756258	1.00[EUR][1000 genomes]
rs1756263	1.00[EUR][1000 genomes]
rs1756264	1.00[EUR][1000 genomes]
rs1765624	1.00[EUR][1000 genomes]
rs1765638	1.00[EUR][1000 genomes]
rs1765639	1.00[EUR][1000 genomes]
rs1765642	1.00[EUR][1000 genomes]
rs2021993	1.00[EUR][1000 genomes]
rs2391471	1.00[EUR][1000 genomes]
rs2483792	1.00[EUR][1000 genomes]
rs2774921	1.00[EUR][1000 genomes]
rs28494821	1.00[EUR][1000 genomes]
rs4847297	1.00[EUR][1000 genomes]
rs57958442	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58750328	1.00[EUR][1000 genomes]
rs59778098	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6541407	1.00[EUR][1000 genomes]
rs6673287	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6675622	1.00[EUR][1000 genomes]
rs6684237	1.00[EUR][1000 genomes]
rs6696070	1.00[EUR][1000 genomes]
rs72971262	1.00[EUR][1000 genomes]
rs72971265	1.00[EUR][1000 genomes]
rs72971278	1.00[EUR][1000 genomes]
rs72971281	1.00[EUR][1000 genomes]
rs72971288	1.00[EUR][1000 genomes]
rs72972706	1.00[EUR][1000 genomes]
rs72972731	1.00[EUR][1000 genomes]
rs72972736	1.00[EUR][1000 genomes]
rs72972747	1.00[EUR][1000 genomes]
rs72972748	1.00[EUR][1000 genomes]
rs7417304	1.00[EUR][1000 genomes]
rs7521107	1.00[EUR][1000 genomes]
rs7530436	1.00[EUR][1000 genomes]
rs7530531	1.00[EUR][1000 genomes]
rs7537686	1.00[EUR][1000 genomes]
rs7542402	1.00[EUR][1000 genomes]
rs7542625	1.00[EUR][1000 genomes]
rs7548077	1.00[EUR][1000 genomes]
rs9432270	1.00[EUR][1000 genomes]
rs9432441	1.00[EUR][1000 genomes]
rs9432688	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1807674	chr1:94549175-94588191	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv871416	chr1:94566311-94635028	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv870932	chr1:94579053-94607607	Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv871679	chr1:94579426-94598568	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv871502	chr1:94579426-94607607	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv871306	chr1:94579426-94609478	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	nsv871210	chr1:94579426-94629643	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv523430	chr1:94582249-94591481	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv933517	chr1:94586286-94588289	Weak transcription Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:94564600-94591800	Weak transcription	Right Atrium	heart
2	chr1:94581400-94588000	Enhancers	Placenta Amnion	Placenta Amnion
3	chr1:94581600-94588600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr1:94583000-94591400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr1:94585600-94591400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr1:94586000-94591400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr1:94586200-94591400	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr1:94586200-94591400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr1:94586200-94591600	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr1:94586200-94591600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr1:94586200-94591800	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr1:94587000-94592400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr1:94587200-94588600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr1:94587400-94588400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr1:94587400-94591400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr1:94587400-94591600	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr1:94587600-94591400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr1:94587600-94591400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr1:94587600-94591400	Weak transcription	Fetal Kidney	kidney
20	chr1:94587600-94591400	Weak transcription	Fetal Muscle Leg	muscle
21	chr1:94587600-94591600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr1:94587600-94591600	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr1:94587600-94591600	Enhancers	HepG2	liver

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