Variant report

Variant	rs207375
Chromosome Location	chr4:19000930-19000931
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:49990781..49991366-chr4:19000460..19000979,2	HCT-116	colon:

Variant related genes	Relation type
ENSG00000142541	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10014091	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10020388	0.92[EUR][1000 genomes]
rs10024481	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1349668	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs1349670	0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1377155	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs185936	0.95[EUR][1000 genomes]
rs1993179	0.92[EUR][1000 genomes]
rs207369	0.97[EUR][1000 genomes]
rs207370	0.97[EUR][1000 genomes]
rs207372	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs207373	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs207374	0.90[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs207376	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs207378	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs207379	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs207380	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs207381	0.92[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs207382	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs207383	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs207384	0.95[EUR][1000 genomes]
rs207385	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2123316	0.83[AMR][1000 genomes]
rs2123319	0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2123320	0.93[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2256795	0.92[EUR][1000 genomes]
rs2537918	0.92[EUR][1000 genomes]
rs2537919	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2537924	0.83[AMR][1000 genomes]
rs2537936	0.93[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2537942	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2537943	0.93[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2601562	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2601563	0.93[AMR][1000 genomes]
rs2601575	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs2601581	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2601583	0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2601586	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2601592	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28625252	0.80[EUR][1000 genomes];1.00[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	nsv533087	chr4:18362040-19176896	Enhancers Bivalent Enhancer ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv532708	chr4:18596861-19176896	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv878723	chr4:18668957-19005988	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
4	nsv1000054	chr4:18839588-19271261	Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv537051	chr4:18839588-19271261	Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv1008625	chr4:18880048-19148705	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv1000563	chr4:18924475-19246818	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv1003321	chr4:18936051-19117825	Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv878724	chr4:18985954-19115862	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription ZNF genes & repeats Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	esv3448027	chr4:18991732-19009185	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:18999200-19002000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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