Variant report

Variant	rs67791002
Chromosome Location	chr2:191201564-191201565
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:191199325..191201599-chr2:191214239..191215795,2	K562	blood:
2	chr2:191199325..191202279-chr2:191214239..191216760,3	K562	blood:
3	chr2:191184370..191186343-chr2:191200551..191204283,4	K562	blood:
4	chr2:191184370..191186343-chr2:191200551..191204283,3	K562	blood:
5	chr2:191200878..191203491-chr2:191203819..191206275,2	K562	blood:

Variant related genes	Relation type
ENSG00000198130	Chromatin interaction

Extended variants
information (count: 61 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10931450	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11683636	0.81[EUR][1000 genomes]
rs11684995	0.82[EUR][1000 genomes]
rs11685119	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11689196	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11692448	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs16832512	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2016037	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2028431	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2067398	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2067402	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2067411	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2067418	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2067419	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2099127	0.82[EUR][1000 genomes]
rs2136568	0.80[EUR][1000 genomes]
rs2136570	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2136571	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2354871	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2582753	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs291434	0.80[EUR][1000 genomes]
rs291435	0.80[EUR][1000 genomes]
rs291436	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs291437	0.80[EUR][1000 genomes]
rs291438	0.80[EUR][1000 genomes]
rs291439	0.80[EUR][1000 genomes]
rs291440	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs291441	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs291442	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs291446	0.84[AMR][1000 genomes]
rs291463	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs35214387	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs3791792	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3791800	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3791805	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3791806	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3791813	0.86[EUR][1000 genomes]
rs3791815	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4146044	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4853689	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4853693	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55684836	0.81[EUR][1000 genomes]
rs55742982	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs56742312	0.80[EUR][1000 genomes]
rs57199157	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs58400804	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60068799	0.80[EUR][1000 genomes]
rs60469543	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs60986316	0.87[EUR][1000 genomes]
rs61038868	0.82[EUR][1000 genomes]
rs6434381	0.80[EUR][1000 genomes]
rs66867328	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6723792	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6752703	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72627903	0.80[EUR][1000 genomes]
rs72627904	0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72627905	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72627906	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7567973	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7599085	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs760307	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs67791002	HIBCH	cis	Thyroid	GTEx

Chromatin state (count:17 , 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	chr2:191198400-191207400	Weak transcription	Spleen	Spleen
3	chr2:191198400-191207600	Weak transcription	NHLF	lung
4	chr2:191198600-191208000	Weak transcription	Aorta	Aorta
5	chr2:191198800-191208000	Weak transcription	Ovary	ovary
6	chr2:191199600-191205000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr2:191199600-191207600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr2:191199600-191208000	Weak transcription	HMEC	breast
9	chr2:191200200-191204400	Weak transcription	A549	lung
10	chr2:191200600-191208000	Weak transcription	Left Ventricle	heart
11	chr2:191200800-191203000	Weak transcription	Pancreas	Pancrea
12	chr2:191200800-191204000	Weak transcription	Liver	Liver
13	chr2:191200800-191205200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr2:191200800-191207200	Weak transcription	Fetal Intestine Small	intestine
15	chr2:191200800-191207400	Weak transcription	Stomach Mucosa	stomach
16	chr2:191201000-191202000	Weak transcription	HepG2	liver
17	chr2:191201000-191205000	Weak transcription	K562	blood

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