Variant report

Variant	rs1251575
Chromosome Location	chr1:76557784-76557785
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs158621	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.96[TSI][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2706197	0.81[ASN][1000 genomes]
rs289679	0.83[CHB][hapmap]
rs289691	0.82[ASW][hapmap]
rs50564	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][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	nsv998499	chr1:76361784-76598712	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv871862	chr1:76525783-76598209	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:76542800-76572000	Weak transcription	Primary B cells from cord blood	blood
2	chr1:76545600-76558200	Weak transcription	Left Ventricle	heart
3	chr1:76548000-76561800	Weak transcription	Fetal Brain Female	brain
4	chr1:76548400-76576200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr1:76553800-76559000	Weak transcription	Fetal Kidney	kidney
6	chr1:76554000-76558600	Weak transcription	Fetal Lung	lung
7	chr1:76556000-76557800	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr1:76556200-76559800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr1:76556400-76557800	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr1:76556800-76558800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr1:76556800-76561400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr1:76557000-76558400	Weak transcription	Brain Substantia Nigra	brain
13	chr1:76557000-76561400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr1:76557400-76561600	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr1:76557400-76561600	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr1:76557400-76605800	Weak transcription	Fetal Intestine Small	intestine
17	chr1:76557600-76559200	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr1:76557600-76559400	Weak transcription	Brain Hippocampus Middle	brain
19	chr1:76557600-76560400	Weak transcription	Brain Anterior Caudate	brain
20	chr1:76557600-76561400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr1:76557600-76561400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr1:76557600-76588800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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