Variant report

Variant	rs12700831
Chromosome Location	chr7:27704186-27704187
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:27702844..27705316-chr7:27782990..27784557,2	K562	blood:
2	chr7:27702189..27703735-chr7:27703951..27706256,2	MCF-7	breast:
3	chr7:27699948..27706867-chr7:27775418..27784557,21	K562	blood:
4	chr7:27704178..27705871-chr7:27706001..27707559,2	MCF-7	breast:
5	chr7:27700432..27708426-chr7:27777901..27782637,20	K562	blood:
6	chr7:27702921..27706495-chr7:27708435..27711221,3	K562	blood:
7	chr7:27702869..27704371-chr7:27770712..27773615,2	K562	blood:

Variant related genes	Relation type
ENSG00000229893	Chromatin interaction
ENSG00000106052	Chromatin interaction
ENSG00000106049	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1005418	0.84[EUR][1000 genomes]
rs10486549	0.83[CHB][hapmap];0.80[CHD][hapmap];0.86[JPT][hapmap]
rs12667470	0.86[JPT][hapmap]
rs12670250	0.82[JPT][hapmap]
rs12671723	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12674175	0.81[CEU][hapmap];0.91[CHB][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1524527	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];0.94[MEX][hapmap];0.94[TSI][hapmap];0.88[YRI][hapmap];0.81[EUR][1000 genomes]
rs16874305	0.86[CHB][hapmap]
rs17155443	0.91[CEU][hapmap];0.81[CHB][hapmap];0.90[JPT][hapmap]
rs17155498	0.82[JPT][hapmap]
rs17155505	0.82[JPT][hapmap]
rs17155537	0.83[CHB][hapmap];0.86[JPT][hapmap]
rs17155705	0.81[CEU][hapmap]
rs17155836	0.80[CEU][hapmap]
rs17155900	0.81[CEU][hapmap]
rs2391450	0.83[CHB][hapmap];0.82[JPT][hapmap]
rs2893292	0.94[ASW][hapmap];1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34536886	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3735570	0.80[CEU][hapmap];0.91[CHB][hapmap]
rs3779472	0.80[CEU][hapmap]
rs42089	0.87[CHB][hapmap];0.91[JPT][hapmap];0.84[ASN][1000 genomes]
rs6950698	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6975900	0.91[CEU][hapmap];0.81[CHB][hapmap];0.86[JPT][hapmap];0.88[MEX][hapmap];0.83[TSI][hapmap]
rs759268	0.83[CHB][hapmap];0.82[JPT][hapmap]
rs759272	0.94[ASW][hapmap];1.00[CEU][hapmap];0.91[CHB][hapmap];0.89[CHD][hapmap];0.94[GIH][hapmap];0.95[JPT][hapmap];0.94[MEX][hapmap];0.94[TSI][hapmap];0.83[YRI][hapmap];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7778454	1.00[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];0.83[YRI][hapmap];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs999491	0.83[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949025	chr7:27578167-28075172	Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12700831	HIBADH	cis	parietal	SCAN

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:27703200-27704800	Enhancers	Stomach Mucosa	stomach
2	chr7:27703200-27708200	Weak transcription	Colon Smooth Muscle	Colon
3	chr7:27703400-27704200	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr7:27703400-27704200	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr7:27703400-27704200	Weak transcription	HUVEC	blood vessel
6	chr7:27703400-27704200	Flanking Active TSS	K562	blood
7	chr7:27703400-27705400	Enhancers	Placenta	Placenta
8	chr7:27703400-27706200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr7:27703600-27704200	Enhancers	Duodenum Mucosa	Duodenum
10	chr7:27703600-27704800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr7:27703600-27708000	Weak transcription	Right Atrium	heart
12	chr7:27703800-27704200	Enhancers	Monocytes-CD14+_RO01746	blood
13	chr7:27704000-27705000	Enhancers	HepG2	liver

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