Variant report

Variant	rs235889
Chromosome Location	chr1:171572323-171572324
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10082212	0.86[ASN][1000 genomes]
rs1540328	0.83[ASN][1000 genomes]
rs235888	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs235890	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs235891	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs235896	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2421850	0.86[ASN][1000 genomes]
rs2901557	0.83[ASN][1000 genomes]
rs57469967	0.84[ASN][1000 genomes]
rs7536514	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv14617	chr1:171016086-171726961	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	esv3512995	chr1:171329123-171994470	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
3	esv3512997	chr1:171329123-171994470	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	esv12447	chr1:171556291-171726822	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
5	esv3399610	chr1:171569794-171575719	Weak transcription Enhancers	lncRNA	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	chr1:171558800-171573200	Weak transcription	Small Intestine	intestine
2	chr1:171561800-171576600	Weak transcription	Brain Substantia Nigra	brain
3	chr1:171562200-171575600	Weak transcription	HepG2	liver
4	chr1:171564400-171573000	Weak transcription	Adipose Nuclei	Adipose
5	chr1:171569200-171576400	Weak transcription	GM12878-XiMat	blood
6	chr1:171570200-171575600	Weak transcription	Liver	Liver
7	chr1:171572000-171572400	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr1:171572000-171572600	Enhancers	H1 Cell Line	embryonic stem cell
9	chr1:171572000-171572600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr1:171572000-171572600	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr1:171572000-171572600	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr1:171572200-171572400	Enhancers	H9 Cell Line	embryonic stem cell
13	chr1:171572200-171572400	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr1:171572200-171572400	Enhancers	Aorta	Aorta
15	chr1:171572200-171572400	Enhancers	Fetal Kidney	kidney
16	chr1:171572200-171572600	Enhancers	iPS-15b Cell Line	embryonic stem cell

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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