Variant report

Variant	rs1015252
Chromosome Location	chr4:130162168-130162169
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs13130222	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1514568	0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs17014505	0.87[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2068135	1.00[ASW][hapmap]
rs2068136	1.00[ASW][hapmap]
rs34670815	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4975201	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs71613918	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71613919	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs71613920	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534538	chr4:129799138-130431688	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv879931	chr4:129939775-130178102	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv830058	chr4:130136025-130315471	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv1031806	chr4:130152860-130178330	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:130160000-130162400	Enhancers	Adipose Nuclei	Adipose
2	chr4:130160000-130162400	Enhancers	Liver	Liver
3	chr4:130160200-130162400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr4:130160200-130162600	Enhancers	NHDF-Ad	bronchial
5	chr4:130160600-130163600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr4:130160800-130162600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr4:130160800-130163800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr4:130160800-130168600	Weak transcription	Fetal Kidney	kidney
9	chr4:130161400-130162400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr4:130161800-130162600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr4:130161800-130162800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr4:130162000-130162200	Enhancers	Right Ventricle	heart
13	chr4:130162000-130162400	Enhancers	H9 Cell Line	embryonic stem cell
14	chr4:130162000-130162400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr4:130162000-130162400	Enhancers	Left Ventricle	heart
16	chr4:130162000-130162600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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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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