Variant report

Variant	rs12749295
Chromosome Location	chr1:212868191-212868192
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs61609997	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][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	nsv549139	chr1:212332294-212876902	Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
2	nsv1013110	chr1:212555764-212948092	Flanking Active TSS Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
3	nsv535287	chr1:212555764-212948092	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
4	esv1829918	chr1:212828460-212874731	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212857200-212871600	Weak transcription	Dnd41	blood
2	chr1:212857600-212869800	Weak transcription	Primary T helper cells PMA-I stimulated	--
3	chr1:212858600-212872200	Weak transcription	Gastric	stomach
4	chr1:212858800-212872200	Weak transcription	Aorta	Aorta
5	chr1:212862600-212871600	Weak transcription	NHLF	lung
6	chr1:212863400-212868400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr1:212863400-212872200	Weak transcription	Spleen	Spleen
8	chr1:212863800-212869600	Weak transcription	Placenta	Placenta
9	chr1:212865600-212871000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr1:212866200-212869600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr1:212866600-212870000	Weak transcription	GM12878-XiMat	blood
12	chr1:212866800-212871800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr1:212867000-212872200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr1:212867200-212871800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr1:212867600-212868200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr1:212867800-212868600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr1:212868000-212868600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr1:212868000-212868600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr1:212868000-212868600	Enhancers	Right Ventricle	heart

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

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