Variant report

Variant	rs56044907
Chromosome Location	chr2:191229535-191229536
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:191229465..191231914-chr2:191232411..191236009,3	K562	blood:

Variant related genes	Relation type
ENSG00000151689	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11544940	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12471159	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12693568	0.83[ASN][1000 genomes]
rs1530225	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1530226	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2006980	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2067434	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2067446	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs291430	0.83[ASN][1000 genomes]
rs291468	0.83[ASN][1000 genomes]
rs35277625	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3791809	0.92[ASN][1000 genomes]
rs6434387	0.84[ASN][1000 genomes]
rs6730620	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs909270	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs909272	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9784054	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs56044907	HIBCH	cis	Muscle Skeletal	GTEx
rs56044907	HIBCH	cis	multi-tissue	Pritchard

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:191211400-191238000	Weak transcription	Hela-S3	cervix
2	chr2:191214000-191230400	Weak transcription	Aorta	Aorta
3	chr2:191219400-191234000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr2:191219600-191243800	Weak transcription	Gastric	stomach
5	chr2:191223800-191236800	Weak transcription	Psoas Muscle	Psoas
6	chr2:191224000-191235600	Weak transcription	Spleen	Spleen
7	chr2:191224200-191230400	Weak transcription	Esophagus	oesophagus
8	chr2:191224800-191236200	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr2:191225000-191230400	Weak transcription	Lung	lung
10	chr2:191225000-191232000	Weak transcription	Ovary	ovary
11	chr2:191225000-191232800	Weak transcription	HUVEC	blood vessel
12	chr2:191225000-191234200	Weak transcription	Right Ventricle	heart
13	chr2:191225000-191235600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr2:191225000-191235600	Weak transcription	Pancreas	Pancrea
15	chr2:191225000-191236400	Strong transcription	Primary monocytes fromperipheralblood	blood
16	chr2:191225000-191237400	Weak transcription	Fetal Brain Female	brain
17	chr2:191225000-191237600	Weak transcription	Small Intestine	intestine
18	chr2:191225000-191242800	Weak transcription	Placenta	Placenta
19	chr2:191225200-191229600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr2:191225200-191229600	Weak transcription	Adipose Nuclei	Adipose
21	chr2:191225200-191229800	Weak transcription	Fetal Muscle Trunk	muscle
22	chr2:191225200-191230000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr2:191225200-191230400	Weak transcription	Fetal Intestine Small	intestine
24	chr2:191225200-191230400	Weak transcription	Fetal Stomach	stomach
25	chr2:191225200-191231000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr2:191225200-191231000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr2:191225200-191231800	Weak transcription	HSMMtube	muscle
28	chr2:191225200-191232000	Weak transcription	HepG2	liver
29	chr2:191225200-191232000	Weak transcription	Osteobl	bone
30	chr2:191225200-191233000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr2:191225200-191233400	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr2:191225200-191233800	Weak transcription	NHLF	lung
33	chr2:191225200-191234400	Weak transcription	K562	blood
34	chr2:191225200-191235200	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr2:191225200-191235200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr2:191225200-191235600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr2:191225200-191235600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr2:191225200-191235600	Weak transcription	Colonic Mucosa	Colon
39	chr2:191225200-191235800	Weak transcription	Primary hematopoietic stem cells	blood
40	chr2:191225200-191235800	Weak transcription	Brain Germinal Matrix	brain
41	chr2:191225200-191236200	Strong transcription	Rectal Mucosa Donor 31	rectum
42	chr2:191225200-191236400	Strong transcription	Primary neutrophils fromperipheralblood	blood
43	chr2:191225200-191236600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr2:191225200-191236600	Weak transcription	NH-A	brain
45	chr2:191225200-191237000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr2:191225200-191237000	Weak transcription	Stomach Mucosa	stomach
47	chr2:191225200-191237000	Weak transcription	HMEC	breast
48	chr2:191225200-191237200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr2:191225200-191237200	Weak transcription	Placenta Amnion	Placenta Amnion
50	chr2:191225200-191238200	Weak transcription	NHEK	skin

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