Variant report

Variant	rs826039
Chromosome Location	chr11:73782965-73782966
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA1	chr11:73781490-73782983	K562	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:73691754..73696567-chr11:73778152..73784121,11	MCF-7	breast:
2	chr11:73756986..73758915-chr11:73782265..73784783,2	MCF-7	breast:
3	chr11:73780866..73784002-chr11:73798180..73802078,6	MCF-7	breast:
4	chr11:73679561..73684546-chr11:73778723..73783416,5	MCF-7	breast:
5	chr11:73691101..73695528-chr11:73777647..73786599,14	MCF-7	breast:
6	chr11:73782168..73784901-chr11:73790303..73791833,2	K562	blood:

No data

Variant related genes	Relation type
C2CD3	TF binding region
ENSG00000175567	Chromatin interaction
ENSG00000255847	Chromatin interaction
ENSG00000168014	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10898954	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1614299	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1615115	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1685326	0.83[ASN][1000 genomes]
rs1685355	0.87[JPT][hapmap]
rs1726735	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1726744	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1726745	0.87[JPT][hapmap]
rs1726746	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1726751	0.89[CEU][hapmap]
rs1726752	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1726764	0.95[CHB][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs1783537	1.00[CEU][hapmap];0.85[CHB][hapmap];0.90[JPT][hapmap]
rs1790381	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1790398	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1790399	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1790404	0.96[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2007567	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2075577	0.87[JPT][hapmap]
rs3018184	0.82[EUR][1000 genomes]
rs4453265	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs474835	0.96[CEU][hapmap];0.91[CHB][hapmap];0.90[JPT][hapmap];0.81[EUR][1000 genomes]
rs4944036	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4944038	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4944878	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs500608	0.96[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap]
rs575096	0.87[EUR][1000 genomes]
rs588097	0.87[JPT][hapmap]
rs590336	0.87[JPT][hapmap]
rs635441	0.87[JPT][hapmap]
rs647126	0.87[JPT][hapmap]
rs6592545	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7121868	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7483884	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7926165	0.87[JPT][hapmap]
rs826033	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs826056	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];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs826062	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs826066	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[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
rs826039	P4HA3	cis	Thyroid	GTEx

Chromatin state (count:121 , 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	chr11:73750800-73783600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr11:73750800-73800400	Weak transcription	HMEC	breast
4	chr11:73753200-73783400	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr11:73753200-73783400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr11:73753200-73796400	Weak transcription	Small Intestine	intestine
7	chr11:73753200-73804600	Weak transcription	Colonic Mucosa	Colon
8	chr11:73753400-73784800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr11:73759000-73783400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr11:73759200-73783600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr11:73759400-73783600	Weak transcription	Colon Smooth Muscle	Colon
12	chr11:73760000-73802600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr11:73760600-73783200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr11:73760600-73785200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr11:73765400-73784000	Weak transcription	Fetal Intestine Small	intestine
16	chr11:73767600-73783800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr11:73768000-73783200	Weak transcription	GM12878-XiMat	blood
18	chr11:73768800-73798200	Weak transcription	NHEK	skin
19	chr11:73769000-73783400	Weak transcription	Ovary	ovary
20	chr11:73769000-73788600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr11:73771000-73783800	Weak transcription	Rectal Smooth Muscle	rectum
22	chr11:73771000-73784800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr11:73771200-73783400	Weak transcription	Lung	lung
24	chr11:73771200-73783800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr11:73771200-73784000	Weak transcription	Fetal Stomach	stomach
26	chr11:73771200-73785200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr11:73771200-73785200	Weak transcription	Esophagus	oesophagus
28	chr11:73771200-73789000	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr11:73777000-73788400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr11:73777600-73788600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr11:73777600-73818600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr11:73778000-73790600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr11:73778200-73783400	Weak transcription	HUVEC	blood vessel
34	chr11:73778200-73786000	Strong transcription	Left Ventricle	heart
35	chr11:73778200-73789800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr11:73778200-73791000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr11:73778400-73786000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr11:73778400-73786000	Strong transcription	HSMMtube	muscle
39	chr11:73778400-73790000	Strong transcription	Fetal Thymus	thymus
40	chr11:73778800-73785600	Strong transcription	Primary hematopoietic stem cells	blood
41	chr11:73778800-73786000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
42	chr11:73778800-73790200	Strong transcription	Primary monocytes fromperipheralblood	blood
43	chr11:73778800-73790400	Strong transcription	Fetal Muscle Leg	muscle
44	chr11:73778800-73790400	Strong transcription	Rectal Mucosa Donor 29	rectum
45	chr11:73778800-73792800	Strong transcription	Primary B cells from cord blood	blood
46	chr11:73779000-73783800	Weak transcription	NHLF	lung
47	chr11:73779000-73785600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr11:73779000-73785600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr11:73779000-73785800	Strong transcription	Primary T cells fromperipheralblood	blood
50	chr11:73779000-73790200	Strong transcription	Primary T helper cells fromperipheralblood	blood

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