Variant report

Variant	rs6975900
Chromosome Location	chr7:27607199-27607200
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs1005418	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10486549	0.81[JPT][hapmap]
rs12164139	0.84[LWK][hapmap];0.82[YRI][hapmap]
rs12234338	0.87[EUR][1000 genomes]
rs12667470	0.81[JPT][hapmap]
rs12670250	0.86[JPT][hapmap]
rs12671723	0.91[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap]
rs12674175	0.91[CHB][hapmap]
rs12700831	0.91[CEU][hapmap];0.81[CHB][hapmap];0.86[JPT][hapmap];0.88[MEX][hapmap];0.83[TSI][hapmap]
rs1357760	0.85[YRI][hapmap]
rs1524527	0.91[CEU][hapmap];0.91[CHB][hapmap];0.93[CHD][hapmap];0.95[JPT][hapmap];0.94[MEX][hapmap];0.88[TSI][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16874305	0.80[CEU][hapmap];0.86[CHB][hapmap];0.91[CHD][hapmap];0.86[EUR][1000 genomes]
rs17155443	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17155465	0.80[CEU][hapmap]
rs17155498	0.86[JPT][hapmap]
rs17155505	0.86[JPT][hapmap]
rs17155537	0.81[JPT][hapmap]
rs2391437	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2391450	0.86[JPT][hapmap]
rs2893292	0.91[CEU][hapmap];0.91[CHB][hapmap];0.93[CHD][hapmap];0.95[JPT][hapmap];0.88[MEX][hapmap];0.81[MKK][hapmap];0.88[TSI][hapmap]
rs34536886	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3735570	0.91[CHB][hapmap];0.81[EUR][1000 genomes]
rs42089	0.95[JPT][hapmap]
rs6462022	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6462023	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs759268	0.86[JPT][hapmap]
rs759272	0.91[CEU][hapmap];0.91[CHB][hapmap];0.81[CHD][hapmap];0.83[GIH][hapmap];0.91[JPT][hapmap];0.89[LWK][hapmap];0.83[MEX][hapmap];0.87[MKK][hapmap];0.88[TSI][hapmap];0.92[YRI][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7778454	0.89[CEU][hapmap];0.90[CHB][hapmap];0.90[JPT][hapmap];0.91[YRI][hapmap]
rs7779488	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs999491	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][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
rs6975900	HIBADH	cis	parietal	SCAN

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:27559400-27627800	Weak transcription	Psoas Muscle	Psoas
2	chr7:27580600-27615000	Weak transcription	Aorta	Aorta
3	chr7:27581400-27617400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr7:27582400-27650800	Weak transcription	Left Ventricle	heart
5	chr7:27582800-27615000	Weak transcription	Placenta	Placenta
6	chr7:27582800-27615200	Weak transcription	Ovary	ovary
7	chr7:27600600-27645600	Weak transcription	Colon Smooth Muscle	Colon
8	chr7:27601200-27609600	Weak transcription	Osteobl	bone
9	chr7:27603000-27626400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr7:27603200-27615400	Weak transcription	Adipose Nuclei	Adipose
11	chr7:27603200-27631800	Weak transcription	Primary T cells from cord blood	blood
12	chr7:27603400-27608600	Weak transcription	NHDF-Ad	bronchial
13	chr7:27603400-27609000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr7:27603600-27626400	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr7:27605000-27614800	Weak transcription	Fetal Kidney	kidney
16	chr7:27605200-27615400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr7:27605200-27617200	Weak transcription	Fetal Intestine Small	intestine
18	chr7:27605200-27624400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr7:27605600-27615200	Weak transcription	Liver	Liver
20	chr7:27605800-27645800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr7:27606600-27607200	ZNF genes & repeats	Fetal Lung	lung
22	chr7:27606600-27607600	Strong transcription	HSMM	muscle
23	chr7:27606800-27614800	Weak transcription	Primary hematopoietic stem cells	blood

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