Variant report

Variant	rs1509285
Chromosome Location	chr4:126286511-126286512
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10011289	0.95[EUR][1000 genomes]
rs10212833	0.90[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12650847	0.90[CEU][hapmap];0.87[EUR][1000 genomes]
rs17009497	0.82[CHB][hapmap];0.80[EUR][1000 genomes]
rs17009524	1.00[CHB][hapmap];0.88[JPT][hapmap];0.80[YRI][hapmap];0.94[ASN][1000 genomes]
rs17009611	0.82[CHB][hapmap]
rs17009625	0.82[CHB][hapmap]
rs72673298	0.80[EUR][1000 genomes]
rs7666354	0.82[CHB][hapmap]
rs7688616	0.82[CHB][hapmap]
rs7690603	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs974243	0.91[CEU][hapmap];0.80[GIH][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.88[EUR][1000 genomes]
rs992122	1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[JPT][hapmap];0.88[LWK][hapmap];0.81[YRI][hapmap];0.94[ASN][1000 genomes]
rs9994504	0.91[CEU][hapmap];0.82[CHB][hapmap];0.80[GIH][hapmap];1.00[TSI][hapmap];0.88[YRI][hapmap];0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1006068	chr4:126103233-126497467	Enhancers ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
2	nsv830051	chr4:126234895-126403426	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:126274000-126288800	Weak transcription	Fetal Stomach	stomach
2	chr4:126274000-126289000	Weak transcription	Fetal Brain Male	brain
3	chr4:126274200-126289400	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr4:126276800-126289800	Weak transcription	Fetal Muscle Leg	muscle
5	chr4:126277400-126288800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr4:126280000-126287000	Weak transcription	Fetal Lung	lung
7	chr4:126280000-126288600	Weak transcription	Fetal Kidney	kidney
8	chr4:126281600-126288800	Weak transcription	NHDF-Ad	bronchial
9	chr4:126282000-126288800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr4:126282000-126288800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr4:126282000-126289200	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr4:126282600-126293000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr4:126282800-126288800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr4:126283400-126288800	Weak transcription	Colon Smooth Muscle	Colon
15	chr4:126286000-126287200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr4:126286200-126287400	Weak transcription	Left Ventricle	heart
17	chr4:126286400-126289200	Weak transcription	Cortex derived primary cultured neurospheres	brain

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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