Variant report

Variant	rs826056
Chromosome Location	chr11:73799300-73799301
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:73691904..73697409-chr11:73796369..73799985,7	K562	blood:
2	chr11:73780866..73784002-chr11:73798180..73802078,6	MCF-7	breast:
3	chr11:73679473..73681993-chr11:73797754..73799459,2	MCF-7	breast:
4	chr11:73798903..73800889-chr11:73801297..73804030,2	K562	blood:
5	chr11:73798926..73801362-chr11:73893492..73896056,2	K562	blood:
6	chr11:73778180..73781840-chr11:73797440..73801034,4	MCF-7	breast:
7	chr11:73695027..73697891-chr11:73799212..73800903,2	K562	blood:

Variant related genes	Relation type
ENSG00000255847	Chromatin interaction
ENSG00000168014	Chromatin interaction
ENSG00000175567	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10898954	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10898956	0.82[ASN][1000 genomes]
rs1614299	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1615115	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1685326	1.00[YRI][hapmap];0.81[ASN][1000 genomes]
rs1685355	0.86[JPT][hapmap]
rs1726735	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1726744	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1726745	0.86[JPT][hapmap]
rs1726746	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1726751	0.89[CEU][hapmap];0.80[EUR][1000 genomes]
rs1726752	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1726764	0.91[CHB][hapmap];0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs1783537	1.00[CEU][hapmap];0.90[CHB][hapmap];0.90[JPT][hapmap]
rs1790381	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1790398	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1790399	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1790404	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2007567	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2075577	0.86[JPT][hapmap]
rs2848559	0.80[CEU][hapmap]
rs3018184	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4453265	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs474835	0.96[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.85[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs4944036	0.89[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4944038	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4944878	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs500608	0.96[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.82[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs575096	0.89[EUR][1000 genomes]
rs578057	0.80[CEU][hapmap]
rs588097	0.86[JPT][hapmap]
rs590336	0.86[JPT][hapmap]
rs635441	0.87[JPT][hapmap]
rs647126	0.87[JPT][hapmap]
rs6592545	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6592551	0.81[EUR][1000 genomes]
rs7121868	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7483884	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7926165	0.87[JPT][hapmap]
rs826033	0.86[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs826039	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs826061	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs826062	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs826066	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv492091	chr11:73285970-73844424	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs826056	P4HA3	cis	Thyroid	GTEx

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73730800-73800800	Weak transcription	Fetal Heart	heart
2	chr11:73750800-73800400	Weak transcription	HMEC	breast
3	chr11:73753200-73804600	Weak transcription	Colonic Mucosa	Colon
4	chr11:73760000-73802600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr11:73777600-73818600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr11:73781800-73849200	Weak transcription	Stomach Mucosa	stomach
7	chr11:73782600-73823800	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr11:73784200-73801000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr11:73785400-73800400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr11:73785600-73800200	Weak transcription	NH-A	brain
11	chr11:73785600-73803400	Weak transcription	NHDF-Ad	bronchial
12	chr11:73785600-73823600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr11:73787800-73811400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr11:73789400-73800800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr11:73789600-73799400	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr11:73789600-73799400	Weak transcription	Osteobl	bone
17	chr11:73789600-73800600	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr11:73789800-73800600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr11:73789800-73800600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr11:73789800-73801000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr11:73790000-73800600	Weak transcription	Esophagus	oesophagus
22	chr11:73790200-73800400	Weak transcription	Primary T helper cells PMA-I stimulated	--
23	chr11:73793800-73800600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr11:73794600-73823600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr11:73794800-73799600	Strong transcription	Thymus	Thymus
26	chr11:73794800-73800600	Strong transcription	Fetal Thymus	thymus
27	chr11:73794800-73804200	Strong transcription	Brain Angular Gyrus	brain
28	chr11:73794800-73805400	Strong transcription	Cortex derived primary cultured neurospheres	brain
29	chr11:73794800-73806600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr11:73794800-73806600	Strong transcription	Fetal Lung	lung
31	chr11:73795000-73806000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr11:73795000-73806000	Strong transcription	Brain Anterior Caudate	brain
33	chr11:73795000-73806400	Strong transcription	Adipose Nuclei	Adipose
34	chr11:73795000-73806600	Strong transcription	Fetal Muscle Leg	muscle
35	chr11:73795000-73808600	Strong transcription	HUES64 Cell Line	embryonic stem cell
36	chr11:73795000-73817400	Strong transcription	Primary neutrophils fromperipheralblood	blood
37	chr11:73795000-73817600	Strong transcription	Primary B cells from cord blood	blood
38	chr11:73795200-73799600	Strong transcription	H1 Cell Line	embryonic stem cell
39	chr11:73795200-73799600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr11:73795200-73800800	Strong transcription	Dnd41	blood
41	chr11:73795200-73802400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr11:73795200-73805000	Strong transcription	HUES6 Cell Line	embryonic stem cell
43	chr11:73795200-73805800	Strong transcription	Duodenum Mucosa	Duodenum
44	chr11:73795200-73806000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr11:73795200-73806000	Strong transcription	Placenta	Placenta
46	chr11:73795200-73806400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
47	chr11:73795200-73806400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
48	chr11:73795200-73806400	Strong transcription	HSMMtube	muscle
49	chr11:73795200-73806600	Strong transcription	HUES48 Cell Line	embryonic stem cell
50	chr11:73795200-73807200	Strong transcription	Rectal Mucosa Donor 29	rectum

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