Variant report

Variant	rs1863878
Chromosome Location	chr12:104065846-104065847
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10778272	0.82[MEX][hapmap]
rs10778275	0.81[EUR][1000 genomes]
rs1593809	0.80[GIH][hapmap];0.86[MEX][hapmap]
rs1863877	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4981017	0.80[JPT][hapmap]
rs4981024	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4981025	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv865	chr12:104030102-104074864	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv560038	chr12:104053420-104092996	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv524064	chr12:104061597-104065846	Bivalent Enhancer Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104063000-104067400	Weak transcription	Spleen	Spleen
2	chr12:104064000-104072000	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr12:104064400-104067400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr12:104064400-104071000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr12:104064600-104071200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr12:104064800-104066400	Weak transcription	Primary neutrophils fromperipheralblood	blood
7	chr12:104064800-104067600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr12:104064800-104070200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr12:104064800-104070400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr12:104065600-104066200	Enhancers	Rectal Mucosa Donor 31	rectum
11	chr12:104065800-104066000	Bivalent Enhancer	HepG2	liver
12	chr12:104065800-104066200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
13	chr12:104065800-104066600	Enhancers	HSMMtube	muscle
14	chr12:104065800-104066800	Enhancers	HSMM	muscle
15	chr12:104065800-104068800	Enhancers	Fetal Intestine Small	intestine
16	chr12:104065800-104075200	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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