Variant report

Variant	rs72750119
Chromosome Location	chr5:52838412-52838413
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:52836956..52838872-chr5:52840887..52843608,2	K562	blood:
2	chr5:52837372..52839534-chr5:52842108..52843861,2	K562	blood:

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10036010	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1593053	0.94[ASN][1000 genomes]
rs28515477	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28708487	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28736800	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35204933	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56129546	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72748120	0.88[ASN][1000 genomes]
rs72748123	0.83[ASN][1000 genomes]
rs72748124	0.88[ASN][1000 genomes]
rs72748126	0.94[ASN][1000 genomes]
rs72748128	0.94[ASN][1000 genomes]
rs72748131	0.94[ASN][1000 genomes]
rs72750104	0.94[ASN][1000 genomes]
rs72750115	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750116	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750118	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750120	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750121	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750122	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750123	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750126	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750127	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750130	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750131	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750134	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72750140	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72750144	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72750148	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72751827	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72751841	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72751844	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72751846	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72751847	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72751863	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72751866	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72751867	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72751871	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72753636	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72753638	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72753639	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72753641	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72753648	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72753652	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72753656	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72753660	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72753662	0.88[EUR][1000 genomes]
rs72753664	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72753670	0.93[ASN][1000 genomes]
rs72753671	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72753677	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72753682	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72753684	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72753688	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72753689	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72753691	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72755368	0.88[EUR][1000 genomes]
rs72755378	0.88[EUR][1000 genomes]
rs72755379	0.81[EUR][1000 genomes]
rs72755392	0.88[EUR][1000 genomes]
rs72755393	0.84[EUR][1000 genomes]
rs72757303	0.84[EUR][1000 genomes]
rs72757306	0.84[EUR][1000 genomes]
rs72757373	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2752745	chr5:52422063-53343529	Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv1032632	chr5:52667145-53655624	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv880868	chr5:52799618-53002783	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:52835400-52838800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr5:52835600-52838800	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr5:52836200-52839000	Weak transcription	HSMM	muscle
4	chr5:52837600-52840600	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr5:52837800-52841200	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr5:52837800-52843000	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr5:52838000-52839200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr5:52838000-52839200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr5:52838200-52839000	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr5:52838200-52839200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr5:52838400-52843000	Enhancers	HUES6 Cell Line	embryonic stem cell

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