Variant report

Variant	rs2090127
Chromosome Location	chr10:50201795-50201796
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	EGR1	chr10:50201739-50202022	K562	blood:	n/a	n/a
2	EGR1	chr10:50201681-50201987	K562	blood:	n/a	n/a
3	CTCF	chr10:50201720-50201870	NHDF-neo	bronchial:	n/a	n/a
4	CTCF	chr10:50201740-50201890	AG09309	skin:	n/a	n/a
5	RCOR1	chr10:50201779-50201916	K562	blood:	n/a	n/a
6	JUND	chr10:50201773-50201931	K562	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000233665	TF binding region

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10735228	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10857431	0.81[EUR][1000 genomes]
rs1877799	0.81[ASN][1000 genomes]
rs1877800	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1913528	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2090126	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2245379	0.91[ASN][1000 genomes]
rs2245392	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2249429	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2249657	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2249659	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2249662	0.81[EUR][1000 genomes]
rs2252811	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2264553	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2264843	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2458671	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2458675	0.85[ASN][1000 genomes]
rs4838433	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4838663	0.81[ASN][1000 genomes]
rs7913932	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv895371	chr10:49492075-50232180	Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
2	nsv831866	chr10:50165180-50335276	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
3	esv3502799	chr10:50196746-50208344	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	esv3502797	chr10:50197246-50208144	Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv6620	chr10:50197344-50224635	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	esv3502798	chr10:50197531-50207624	Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	esv3314886	chr10:50197812-50207300	Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	esv3314897	chr10:50197842-50207294	Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	esv3502795	chr10:50197861-50207300	Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	esv3502801	chr10:50197869-50207271	Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	esv3502800	chr10:50197875-50207222	Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	esv3502802	chr10:50197909-50207239	Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
13	esv3326907	chr10:50197910-50204831	Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
14	esv3314908	chr10:50197969-50207188	Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
15	esv3502803	chr10:50197969-50207188	Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:50190400-50204600	Weak transcription	Fetal Muscle Leg	muscle
2	chr10:50201400-50201800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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