Variant report

Variant	rs74134330
Chromosome Location	chr1:196431176-196431177
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs12127468	1.00[AMR][1000 genomes]
rs12130043	1.00[AMR][1000 genomes]
rs12141177	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56078312	1.00[AMR][1000 genomes]
rs74134347	1.00[AMR][1000 genomes]
rs74134368	1.00[AMR][1000 genomes]
rs74134369	1.00[AMR][1000 genomes]
rs74134370	1.00[AMR][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	nsv931415	chr1:196270759-196744780	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv1009233	chr1:196301712-196568874	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 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	chr1:196420000-196460800	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr1:196421000-196433400	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr1:196421800-196433400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr1:196422200-196432200	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr1:196425200-196433200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr1:196425400-196432800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr1:196425400-196433800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr1:196425400-196434000	Weak transcription	Fetal Muscle Leg	muscle
9	chr1:196425600-196433200	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr1:196429000-196433600	Weak transcription	Rectal Smooth Muscle	rectum
11	chr1:196429000-196435600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr1:196429200-196435400	Weak transcription	Ovary	ovary
13	chr1:196429200-196450400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr1:196430600-196431600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr1:196430800-196431600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr1:196430800-196439600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr1:196431000-196432000	Weak transcription	Liver	Liver

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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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