Variant report

Variant	rs73036333
Chromosome Location	chr1:171366334-171366335
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs16864447	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16864466	1.00[EUR][1000 genomes]
rs56749748	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58479321	1.00[EUR][1000 genomes]
rs59719494	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73036313	1.00[EUR][1000 genomes]
rs73036315	1.00[EUR][1000 genomes]
rs73036317	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73036319	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73036325	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73036327	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73036360	1.00[EUR][1000 genomes]
rs73038304	1.00[EUR][1000 genomes]
rs73038313	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001228	chr1:170885787-171452579	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
2	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
3	esv10193	chr1:171128845-171414611	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv1002423	chr1:171294384-171376936	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv548188	chr1:171308832-171371998	Enhancers Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	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
7	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

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:171351600-171372600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:171363000-171367200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr1:171364600-171367400	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr1:171366000-171366400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr1:171366000-171366600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr1:171366200-171366600	Enhancers	H1 Cell Line	embryonic stem cell
7	chr1:171366200-171366600	Enhancers	Duodenum Mucosa	Duodenum
8	chr1:171366200-171366600	Enhancers	Placenta	Placenta
9	chr1:171366200-171366800	Enhancers	K562	blood
10	chr1:171366200-171367000	Enhancers	NHEK	skin
11	chr1:171366200-171367200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr1:171366200-171367400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr1:171366200-171367400	Enhancers	Fetal Intestine Small	intestine
14	chr1:171366200-171367600	Enhancers	Fetal Intestine Large	intestine

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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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