Variant report

Variant	rs289675
Chromosome Location	chr1:76559218-76559219
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs508072	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs531588	1.00[AFR][1000 genomes]
rs945365	1.00[AFR][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:23 , 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	chr1:76548000-76561800	Weak transcription	Fetal Brain Female	brain
3	chr1:76548400-76576200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr1:76556200-76559800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr1:76556800-76561400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr1:76557000-76561400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr1:76557400-76561600	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr1:76557400-76561600	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr1:76557400-76605800	Weak transcription	Fetal Intestine Small	intestine
10	chr1:76557600-76559400	Weak transcription	Brain Hippocampus Middle	brain
11	chr1:76557600-76560400	Weak transcription	Brain Anterior Caudate	brain
12	chr1:76557600-76561400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr1:76557600-76561400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr1:76557600-76588800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr1:76557800-76559600	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr1:76558000-76559800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr1:76558400-76562000	Enhancers	Brain Substantia Nigra	brain
18	chr1:76558600-76559600	Enhancers	Fetal Lung	lung
19	chr1:76558600-76559800	Weak transcription	Left Ventricle	heart
20	chr1:76558800-76559600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr1:76559000-76560000	Enhancers	Fetal Kidney	kidney
22	chr1:76559000-76562000	Enhancers	Brain Cingulate Gyrus	brain
23	chr1:76559200-76560000	Enhancers	Brain Inferior Temporal Lobe	brain

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