Variant report

Variant	rs291430
Chromosome Location	chr2:191198727-191198728
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:191183612..191185987-chr2:191197028..191199331,2	K562	blood:
2	chr2:191192688..191195357-chr2:191197273..191199256,2	K562	blood:
3	chr2:191196727..191198778-chr2:191223170..191225745,2	K562	blood:
4	chr2:191198145..191200650-chr2:191242690..191244565,2	K562	blood:
5	chr2:191198190..191200856-chr2:191203252..191205051,3	K562	blood:
6	chr2:191193453..191196089-chr2:191197942..191200892,2	K562	blood:

Variant related genes	Relation type
ENSG00000151689	Chromatin interaction
ENSG00000198130	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs11544940	0.83[ASN][1000 genomes]
rs12471159	0.83[ASN][1000 genomes]
rs12693568	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13006833	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1530225	0.81[ASN][1000 genomes]
rs1530226	0.83[ASN][1000 genomes]
rs172366	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1876877	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2006980	0.83[ASN][1000 genomes]
rs2067434	0.80[ASN][1000 genomes]
rs2067446	0.83[ASN][1000 genomes]
rs2136566	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2136569	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2582735	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2582736	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2582746	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2582766	0.90[AMR][1000 genomes]
rs2582770	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2664251	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2664252	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2664253	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2664259	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2664260	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs291427	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs291428	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs291429	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs291431	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs291444	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs291445	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs291447	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs291448	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs291449	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs291453	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs291458	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs291459	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs291460	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs291461	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs291462	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs291464	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs291466	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs291468	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs291470	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs291472	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2919677	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3791809	0.92[ASN][1000 genomes]
rs56044907	0.83[ASN][1000 genomes]
rs6434387	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6730620	0.83[ASN][1000 genomes]
rs906916	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs909270	0.82[ASN][1000 genomes]
rs909272	0.83[ASN][1000 genomes]
rs9784054	0.83[ASN][1000 genomes]

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs291430	HIBCH	cis	multi-tissue	Pritchard
rs291430	HIBCH	cis	Stomach	GTEx
rs291430	HIBCH	cis	Heart Left Ventricle	GTEx
rs291430	HIBCH	cis	Muscle Skeletal	GTEx
rs291430	HIBCH	cis	lung	GTEx
rs291430	HIBCH	Cis_1M	lymphoblastoid	RTeQTL
rs291430	INPP1	Cis_1M	lymphoblastoid	RTeQTL
rs291430	HIBCH	cis	Thyroid	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:191191600-191208000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:191197800-191199000	Enhancers	HepG2	liver
3	chr2:191197800-191199200	Enhancers	Duodenum Mucosa	Duodenum
4	chr2:191197800-191199400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr2:191197800-191199400	Enhancers	Fetal Intestine Large	intestine
6	chr2:191197800-191200800	Enhancers	Fetal Intestine Small	intestine
7	chr2:191198000-191199000	Enhancers	HUVEC	blood vessel
8	chr2:191198200-191200000	Flanking Active TSS	A549	lung
9	chr2:191198200-191200200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr2:191198200-191200200	Enhancers	Pancreatic Islets	Pancreatic Islet
11	chr2:191198200-191200800	Enhancers	Hela-S3	cervix
12	chr2:191198400-191198800	Active TSS	K562	blood
13	chr2:191198400-191199800	Flanking Active TSS	Liver	Liver
14	chr2:191198400-191207400	Weak transcription	Spleen	Spleen
15	chr2:191198400-191207600	Weak transcription	NHLF	lung
16	chr2:191198600-191199200	Enhancers	NHEK	skin
17	chr2:191198600-191199400	Weak transcription	Stomach Mucosa	stomach
18	chr2:191198600-191208000	Weak transcription	Aorta	Aorta

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