Variant report

Variant	rs1726744
Chromosome Location	chr11:73865782-73865783
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10898954	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1614299	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1615115	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1685326	1.00[YRI][hapmap]
rs1685355	0.86[JPT][hapmap]
rs1726735	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1726745	0.87[JPT][hapmap]
rs1726746	0.89[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.87[LWK][hapmap];0.89[MKK][hapmap];0.98[TSI][hapmap];0.91[AFR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1726751	0.89[CEU][hapmap];0.87[TSI][hapmap];0.85[EUR][1000 genomes]
rs1726752	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1726764	0.91[CHB][hapmap];0.93[CHD][hapmap];0.81[GIH][hapmap];0.95[JPT][hapmap];0.87[MEX][hapmap]
rs1783537	1.00[CEU][hapmap];0.90[CHB][hapmap];0.89[JPT][hapmap];0.82[EUR][1000 genomes]
rs1790381	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[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];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1790399	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1790404	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2007567	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2075577	0.87[JPT][hapmap]
rs3018184	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4453265	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.95[GIH][hapmap];0.91[JPT][hapmap];0.95[MEX][hapmap];0.91[TSI][hapmap];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs474280	0.89[ASW][hapmap];0.84[CHD][hapmap]
rs474835	0.89[ASW][hapmap];0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];0.83[LWK][hapmap];0.89[MKK][hapmap];0.98[TSI][hapmap];0.97[AFR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs486577	0.89[ASW][hapmap];0.84[CHD][hapmap]
rs490539	0.89[ASW][hapmap];0.84[CHD][hapmap]
rs4944036	0.89[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.82[TSI][hapmap];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4944038	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4944878	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs500608	0.89[ASW][hapmap];0.96[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];1.00[LWK][hapmap];0.89[MKK][hapmap];0.98[TSI][hapmap];0.94[AFR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs513683	0.84[MKK][hapmap]
rs575096	0.88[AFR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs588097	0.87[JPT][hapmap]
rs590336	0.87[JPT][hapmap]
rs627354	0.89[ASW][hapmap]
rs635441	0.87[JPT][hapmap]
rs647126	0.87[JPT][hapmap]
rs6592545	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.95[GIH][hapmap];0.91[JPT][hapmap];0.95[MEX][hapmap];0.91[TSI][hapmap];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6592551	0.86[EUR][1000 genomes]
rs7121868	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7483884	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7926165	0.87[JPT][hapmap]
rs826033	0.85[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs826039	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs826056	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]
rs826061	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs826062	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs826066	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757451	chr11:73842609-74545888	Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	esv2759837	chr11:73842609-74557597	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1726744	P4HA3	cis	Thyroid	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73802200-73880800	Weak transcription	Esophagus	oesophagus
2	chr11:73804000-73880800	Weak transcription	Aorta	Aorta
3	chr11:73817600-73880800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr11:73825000-73880400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr11:73825800-73878600	Weak transcription	Fetal Brain Male	brain
6	chr11:73829400-73873800	Weak transcription	Right Ventricle	heart
7	chr11:73843400-73867200	Weak transcription	Fetal Stomach	stomach
8	chr11:73844800-73880200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr11:73847200-73869800	Weak transcription	Fetal Kidney	kidney
10	chr11:73847800-73866800	Weak transcription	Fetal Muscle Trunk	muscle
11	chr11:73847800-73870800	Weak transcription	Duodenum Mucosa	Duodenum
12	chr11:73847800-73875000	Weak transcription	Fetal Lung	lung
13	chr11:73847800-73875200	Weak transcription	Left Ventricle	heart
14	chr11:73847800-73880800	Weak transcription	Spleen	Spleen
15	chr11:73848000-73873000	Weak transcription	GM12878-XiMat	blood
16	chr11:73849600-73873800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr11:73849600-73875000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr11:73850200-73870800	Weak transcription	Primary monocytes fromperipheralblood	blood
19	chr11:73850200-73879600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr11:73850600-73869800	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr11:73850800-73866000	Weak transcription	Primary B cells from peripheral blood	blood
22	chr11:73850800-73866400	Weak transcription	Primary T helper cells PMA-I stimulated	--
23	chr11:73850800-73866800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr11:73850800-73867200	Weak transcription	Thymus	Thymus
25	chr11:73850800-73867600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr11:73850800-73869000	Weak transcription	Primary hematopoietic stem cells	blood
27	chr11:73850800-73869800	Weak transcription	Dnd41	blood
28	chr11:73850800-73870000	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr11:73850800-73871000	Weak transcription	Liver	Liver
30	chr11:73850800-73872200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr11:73850800-73875400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr11:73850800-73875600	Weak transcription	Brain Germinal Matrix	brain
33	chr11:73851000-73871400	Weak transcription	Primary T cells fromperipheralblood	blood
34	chr11:73851400-73866000	Weak transcription	Primary T cells from cord blood	blood
35	chr11:73851400-73867200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr11:73852000-73877000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr11:73852600-73870000	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr11:73852600-73873800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr11:73852800-73868800	Weak transcription	K562	blood
40	chr11:73852800-73869800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr11:73852800-73877200	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr11:73852800-73878000	Weak transcription	Psoas Muscle	Psoas
43	chr11:73853000-73865800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr11:73853200-73869800	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr11:73853400-73875200	Weak transcription	Adipose Nuclei	Adipose
46	chr11:73853800-73875200	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr11:73854000-73881000	Weak transcription	Lung	lung
48	chr11:73856800-73866000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
49	chr11:73857400-73866200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr11:73858600-73866400	Weak transcription	Placenta	Placenta

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