Variant report

Variant	rs12082526
Chromosome Location	chr1:120401043-120401044
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10923913	0.90[AFR][1000 genomes]
rs10923915	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10923922	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs12059465	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs12079449	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12097726	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1341408	0.86[AFR][1000 genomes]
rs17024398	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3850867	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs6666925	0.83[AFR][1000 genomes]
rs7354885	0.89[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932014	chr1:119476480-120471049	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	86 gene(s)	inside rSNPs	diseases
2	nsv1000939	chr1:119983342-120471049	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv831215	chr1:120266449-120448469	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	nsv428201	chr1:120267313-120697156	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	esv2757750	chr1:120267313-121226013	Enhancers Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
6	esv2758965	chr1:120267313-121226013	Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
7	nsv915933	chr1:120323527-120471049	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
8	nsv831226	chr1:120331599-120471049	Enhancers Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
9	nsv533996	chr1:120359524-120471049	Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
10	nsv872180	chr1:120366055-120412885	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	nsv946187	chr1:120370078-120406007	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
12	nsv10672	chr1:120386985-120410007	Weak transcription Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
13	nsv436325	chr1:120390914-120471049	Enhancers Genic enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 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	chr1:120396000-120402400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:120400200-120402400	Enhancers	Fetal Intestine Large	intestine
3	chr1:120400400-120402600	Enhancers	Fetal Intestine Small	intestine
4	chr1:120400600-120401400	Enhancers	HepG2	liver
5	chr1:120400600-120401800	Enhancers	K562	blood
6	chr1:120400800-120401800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr1:120400800-120401800	Enhancers	Dnd41	blood
8	chr1:120400800-120402400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr1:120400800-120403200	Enhancers	HUVEC	blood vessel
10	chr1:120400800-120404000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr1:120400800-120404200	Enhancers	Fetal Muscle Leg	muscle
12	chr1:120400800-120405000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr1:120401000-120401400	Enhancers	Fetal Kidney	kidney
14	chr1:120401000-120402000	Weak transcription	Duodenum Mucosa	Duodenum
15	chr1:120401000-120402000	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr1:120401000-120402200	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr1:120401000-120404800	Weak transcription	Sigmoid Colon	Sigmoid Colon

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dbSNP/dbVar ID: rs12345 /nsv7879
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