Variant report

Variant	rs1404053
Chromosome Location	chr2:48908909-48908910
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	chr2:48901300..48903356-chr2:48907687..48909663,2	K562	blood:

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10204790	0.83[YRI][hapmap]
rs10865233	0.80[AFR][1000 genomes]
rs10865234	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs12473878	0.86[AFR][1000 genomes]
rs13396590	0.86[YRI][hapmap]
rs1404052	1.00[CEU][hapmap];0.83[YRI][hapmap];0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1464728	0.87[CEU][hapmap];0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1524149	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs1524150	0.88[CEU][hapmap];1.00[EUR][1000 genomes]
rs1524152	0.92[EUR][1000 genomes]
rs1524158	0.82[CEU][hapmap];0.83[YRI][hapmap];0.84[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs1524159	0.84[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs1554613	0.83[YRI][hapmap];0.82[AFR][1000 genomes]
rs2204305	0.81[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs2349100	0.88[CEU][hapmap];0.85[EUR][1000 genomes]
rs4429517	0.85[AFR][1000 genomes]
rs4953611	1.00[CEU][hapmap];0.94[YRI][hapmap];0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6712472	0.82[YRI][hapmap]
rs6725150	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs6725165	1.00[CEU][hapmap];0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6740726	1.00[CEU][hapmap];0.85[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs6747134	0.86[YRI][hapmap]
rs7566301	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv581776	chr2:48763382-48913019	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1010494	chr2:48767055-49027310	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv1002793	chr2:48771220-49466550	ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	nsv1004965	chr2:48796170-49443587	Bivalent Enhancer Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	nsv535684	chr2:48796170-49443587	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
6	nsv498119	chr2:48808834-49422647	Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
7	nsv833992	chr2:48814223-48998037	Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:48863000-48919600	Weak transcription	Colon Smooth Muscle	Colon
2	chr2:48869800-48915400	Weak transcription	Adipose Nuclei	Adipose
3	chr2:48874200-48919600	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr2:48898800-48920200	Weak transcription	Ovary	ovary
5	chr2:48908000-48920000	Weak transcription	Stomach Smooth Muscle	stomach

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