Variant report

Variant	rs17394161
Chromosome Location	chr1:94588040-94588041
allele	A/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	RCOR1	chr1:94586979-94588661	IMR90	lung:	n/a	n/a
2	FOS	chr1:94587751-94588289	HUVEC	blood vessel:	n/a	chr1:94587937-94587948 chr1:94587938-94587948 chr1:94587938-94587947 chr1:94587938-94587948 chr1:94587940-94587947
3	GATA2	chr1:94587765-94588231	HUVEC	blood vessel:	n/a	n/a
4	POLR2A	chr1:94587967-94588061	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
ABCA4	TF binding region

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1048854	1.00[ASN][1000 genomes]
rs1105123	0.86[AMR][1000 genomes]
rs11583999	0.94[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17398377	0.89[CEU][hapmap];0.97[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1929132	1.00[ASN][1000 genomes]
rs2184339	0.88[EUR][1000 genomes]
rs2781575	1.00[ASN][1000 genomes]
rs4847198	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4847199	1.00[ASN][1000 genomes]
rs4847288	1.00[ASN][1000 genomes]
rs4847292	1.00[ASN][1000 genomes]
rs55763912	1.00[ASN][1000 genomes]
rs55803521	1.00[ASN][1000 genomes]
rs56023603	1.00[ASN][1000 genomes]
rs56184400	1.00[ASN][1000 genomes]
rs56251025	1.00[ASN][1000 genomes]
rs56265999	1.00[ASN][1000 genomes]
rs61782652	1.00[ASN][1000 genomes]
rs61784299	1.00[ASN][1000 genomes]
rs71652552	1.00[ASN][1000 genomes]
rs7535005	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7550859	1.00[ASN][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:24 , 50 per page) page: 1

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

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