Variant report

Variant	rs13006833
Chromosome Location	chr2:191205499-191205500
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF384	chr2:191205429-191205609	GM12878	blood:	n/a	n/a
2	ZNF384	chr2:191205225-191205739	K562	blood:	n/a	n/a
3	SP1	chr2:191205124-191205642	H1-hESC	embryonic stem cell:	n/a	chr2:191205496-191205510 chr2:191205500-191205509 chr2:191205499-191205511 chr2:191205499-191205511

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:191200878..191203491-chr2:191203819..191206275,2	K562	blood:
2	chr2:191203532..191206779-chr2:191218444..191221655,4	K562	blood:

Variant related genes	Relation type
INPP1	TF binding region
ENSG00000151689	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs12693568	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs172366	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1876877	0.84[AMR][1000 genomes]
rs2136569	0.81[AMR][1000 genomes]
rs2582736	0.84[AMR][1000 genomes]
rs2582746	0.89[AMR][1000 genomes]
rs2582766	0.83[AMR][1000 genomes]
rs2582770	0.84[AMR][1000 genomes]
rs2664252	0.82[AMR][1000 genomes]
rs2664253	0.83[AMR][1000 genomes]
rs2664259	0.81[AMR][1000 genomes]
rs291427	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs291428	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs291429	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs291430	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs291431	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs291444	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs291445	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs291447	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs291448	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs291449	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs291458	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs291459	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs291460	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs291461	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs291462	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs291464	0.85[AMR][1000 genomes]
rs291466	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs291468	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs291470	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs291472	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6434387	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs906916	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs13006833	HIBCH	Cis_1M	lymphoblastoid	RTeQTL
rs13006833	HIBCH	cis	Stomach	GTEx
rs13006833	HIBCH	cis	Heart Left Ventricle	GTEx
rs13006833	HIBCH	cis	Thyroid	GTEx
rs13006833	HIBCH	cis	multi-tissue	Pritchard
rs13006833	HIBCH	cis	Muscle Skeletal	GTEx
rs13006833	INPP1	Cis_1M	lymphoblastoid	RTeQTL
rs13006833	HIBCH	cis	lung	GTEx

Chromatin state (count:25 , 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	chr2:191199600-191207600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr2:191199600-191208000	Weak transcription	HMEC	breast
8	chr2:191200600-191208000	Weak transcription	Left Ventricle	heart
9	chr2:191200800-191207200	Weak transcription	Fetal Intestine Small	intestine
10	chr2:191200800-191207400	Weak transcription	Stomach Mucosa	stomach
11	chr2:191203200-191206800	Weak transcription	Small Intestine	intestine
12	chr2:191203400-191207400	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr2:191203400-191207400	Weak transcription	Pancreas	Pancrea
14	chr2:191204200-191208000	Enhancers	HepG2	liver
15	chr2:191204400-191206600	Enhancers	A549	lung
16	chr2:191204400-191207200	Weak transcription	Brain Angular Gyrus	brain
17	chr2:191204600-191207400	Weak transcription	Liver	Liver
18	chr2:191205000-191205600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr2:191205000-191205800	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr2:191205000-191205800	Enhancers	K562	blood
21	chr2:191205200-191205800	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr2:191205200-191205800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr2:191205400-191205800	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr2:191205400-191207400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr2:191205400-191207400	Weak transcription	Right Atrium	heart

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