Variant report

Variant	rs12297756
Chromosome Location	chr12:57432609-57432610
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11172083	1.00[EUR][1000 genomes]
rs11172087	1.00[AFR][1000 genomes]
rs11838119	1.00[EUR][1000 genomes]
rs34377647	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs35827450	1.00[CEU][hapmap]
rs57244425	1.00[EUR][1000 genomes]
rs60301769	1.00[EUR][1000 genomes]
rs60957079	1.00[EUR][1000 genomes]
rs61303242	1.00[EUR][1000 genomes]
rs73332659	1.00[EUR][1000 genomes]
rs73332662	1.00[EUR][1000 genomes]
rs73332664	1.00[EUR][1000 genomes]
rs73332676	1.00[EUR][1000 genomes]
rs73332678	1.00[EUR][1000 genomes]
rs73332681	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040850	chr12:57055011-57679209	Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	181 gene(s)	inside rSNPs	diseases
2	nsv428590	chr12:57329214-57527358	Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
3	nsv832428	chr12:57340609-57535694	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
4	nsv899110	chr12:57422934-57472502	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:57416800-57439400	Strong transcription	Fetal Intestine Small	intestine
2	chr12:57417200-57441200	Weak transcription	Small Intestine	intestine
3	chr12:57419200-57439400	Strong transcription	Duodenum Mucosa	Duodenum
4	chr12:57419800-57439600	Strong transcription	Fetal Intestine Large	intestine
5	chr12:57420000-57440000	Strong transcription	Rectal Mucosa Donor 29	rectum
6	chr12:57420400-57471800	Weak transcription	Gastric	stomach
7	chr12:57421800-57441600	Weak transcription	Rectal Smooth Muscle	rectum
8	chr12:57426000-57433000	Weak transcription	Fetal Thymus	thymus
9	chr12:57426000-57433200	Weak transcription	Thymus	Thymus
10	chr12:57426400-57433200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr12:57427000-57433200	Weak transcription	Primary T cells from cord blood	blood
12	chr12:57427400-57435400	Strong transcription	Sigmoid Colon	Sigmoid Colon
13	chr12:57429000-57438000	Strong transcription	Rectal Mucosa Donor 31	rectum
14	chr12:57431400-57432800	Strong transcription	Fetal Stomach	stomach
15	chr12:57431600-57434000	Strong transcription	Colonic Mucosa	Colon
16	chr12:57432000-57432800	Enhancers	K562	blood
17	chr12:57432400-57432800	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr12:57432600-57432800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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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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