Variant report

Variant	rs2391098
Chromosome Location	chr4:127755263-127755264
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:127753877..127756551-chr4:127761614..127765337,3	K562	blood:

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10518503	1.00[ASN][1000 genomes]
rs1167191	1.00[ASN][1000 genomes]
rs1167193	1.00[ASN][1000 genomes]
rs11736466	1.00[ASN][1000 genomes]
rs12500894	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12508795	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12508922	1.00[ASN][1000 genomes]
rs12648553	1.00[ASN][1000 genomes]
rs1393992	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1503607	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1503629	1.00[ASN][1000 genomes]
rs17202524	1.00[ASN][1000 genomes]
rs17204565	1.00[ASN][1000 genomes]
rs17205524	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17262874	1.00[ASN][1000 genomes]
rs17265230	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1910440	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs192855	1.00[ASN][1000 genomes]
rs2174182	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs220087	1.00[ASN][1000 genomes]
rs2202278	1.00[ASN][1000 genomes]
rs2221359	1.00[ASN][1000 genomes]
rs2637572	1.00[ASN][1000 genomes]
rs2637574	1.00[ASN][1000 genomes]
rs2969612	1.00[ASN][1000 genomes]
rs313068	1.00[ASN][1000 genomes]
rs313073	1.00[ASN][1000 genomes]
rs313074	1.00[ASN][1000 genomes]
rs313078	1.00[ASN][1000 genomes]
rs313079	1.00[ASN][1000 genomes]
rs313080	1.00[ASN][1000 genomes]
rs313113	1.00[ASN][1000 genomes]
rs313114	1.00[ASN][1000 genomes]
rs313117	1.00[ASN][1000 genomes]
rs313122	1.00[ASN][1000 genomes]
rs313125	1.00[ASN][1000 genomes]
rs313128	1.00[ASN][1000 genomes]
rs35780812	1.00[ASN][1000 genomes]
rs386871	1.00[ASN][1000 genomes]
rs411063	1.00[ASN][1000 genomes]
rs433919	1.00[ASN][1000 genomes]
rs4429742	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs450760	1.00[ASN][1000 genomes]
rs4580666	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6534580	1.00[ASN][1000 genomes]
rs6821115	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7655747	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7672599	1.00[ASN][1000 genomes]
rs7675809	1.00[ASN][1000 genomes]
rs951783	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012833	chr4:127468474-127760933	Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv537242	chr4:127468474-127760933	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv524850	chr4:127470903-127768849	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv879909	chr4:127646765-127792639	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv879910	chr4:127646765-127805466	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv879911	chr4:127646765-127835677	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv879912	chr4:127706053-127775563	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
8	esv3367258	chr4:127749396-127772702	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:127716000-127756000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr4:127751000-127764000	Weak transcription	K562	blood

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