Variant report

Variant	rs6434387
Chromosome Location	chr2:191205969-191205970
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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
ENSG00000151689	Chromatin interaction

Extended variants
information (count: 66 )
Associated
traits (count: 9 )

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs1058180	0.85[YRI][hapmap]
rs11544940	0.93[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs12471159	0.93[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs12693568	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13006833	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1530225	0.82[ASN][1000 genomes]
rs1530226	0.93[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs172366	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs176712	0.85[YRI][hapmap]
rs1866849	0.80[YRI][hapmap]
rs1876877	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs188339	0.85[YRI][hapmap]
rs2006980	0.83[ASN][1000 genomes]
rs2067434	0.87[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs2067446	0.93[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs2136566	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2136568	0.82[YRI][hapmap]
rs2136569	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2256301	0.86[YRI][hapmap]
rs2582735	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2582736	0.96[CEU][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2582742	0.85[YRI][hapmap]
rs2582746	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2582770	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2664241	0.87[YRI][hapmap]
rs2664251	1.00[CEU][hapmap];0.84[YRI][hapmap];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2664252	0.96[CEU][hapmap];0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2664253	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2664256	0.89[YRI][hapmap]
rs2664259	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2664260	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs291424	0.87[YRI][hapmap]
rs291427	0.96[CEU][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs291428	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs291429	0.96[CEU][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs291430	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs291431	1.00[CEU][hapmap];0.96[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs291436	0.83[YRI][hapmap]
rs291441	0.86[YRI][hapmap]
rs291442	0.87[YRI][hapmap]
rs291444	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs291445	1.00[CEU][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs291447	1.00[CEU][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs291448	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs291449	1.00[CEU][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs291453	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs291458	1.00[CEU][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs291459	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs291460	1.00[CEU][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs291461	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs291462	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs291464	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs291466	0.96[CEU][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs291468	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs291470	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs291472	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2919677	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs35277625	0.80[ASN][1000 genomes]
rs3791809	0.93[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs56044907	0.84[ASN][1000 genomes]
rs6730620	0.83[ASN][1000 genomes]
rs7590991	0.95[JPT][hapmap]
rs906916	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs909270	0.93[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs909272	0.83[ASN][1000 genomes]
rs9784054	0.83[ASN][1000 genomes]

mRNA abundance (count:9)

SNP	Gene	Cis/trans	Tissue	Source
rs6434387	HIBCH	cis	Lymphoblastoid	GTEx
rs6434387	HIBCH	cis	Muscle Skeletal	GTEx
rs6434387	HIBCH	cis	Heart Left Ventricle	GTEx
rs6434387	HIBCH	cis	Thyroid	GTEx
rs6434387	HIBCH	cis	multi-tissue	Pritchard
rs6434387	HIBCH	Cis_1M	lymphoblastoid	RTeQTL
rs6434387	HIBCH	cis	lung	GTEx
rs6434387	INPP1	Cis_1M	lymphoblastoid	RTeQTL
rs6434387	HIBCH	cis	Stomach	GTEx

Chromatin state (count:24 , 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	chr2:191205400-191207400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr2:191205400-191207400	Weak transcription	Right Atrium	heart
20	chr2:191205600-191206800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr2:191205600-191207600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr2:191205600-191207600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr2:191205800-191207400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr2:191205800-191216200	Weak transcription	K562	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links