Variant report

Variant	rs1726751
Chromosome Location	chr11:73888566-73888567
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:73877253..73879970-chr11:73887172..73889134,2	K562	blood:
2	chr11:73692904..73694419-chr11:73887307..73889676,2	K562	blood:
3	chr11:73886829..73890405-chr11:73891639..73894594,5	MCF-7	breast:
4	chr11:73882326..73884979-chr11:73886620..73889145,2	MCF-7	breast:
5	chr11:73692196..73693796-chr11:73888424..73890180,2	MCF-7	breast:
6	chr11:73880760..73884943-chr11:73886661..73893708,8	MCF-7	breast:

Variant related genes	Relation type
ENSG00000168014	Chromatin interaction
ENSG00000214517	Chromatin interaction
ENSG00000175567	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10898954	0.89[CEU][hapmap]
rs1614299	0.83[EUR][1000 genomes]
rs1615115	0.83[EUR][1000 genomes]
rs1685356	0.82[MKK][hapmap]
rs1726744	0.89[CEU][hapmap];0.87[TSI][hapmap];0.85[EUR][1000 genomes]
rs1726746	0.89[CEU][hapmap];0.82[MEX][hapmap];0.89[TSI][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1726752	0.83[EUR][1000 genomes]
rs1783537	0.95[CEU][hapmap]
rs1790381	0.83[EUR][1000 genomes]
rs1790398	0.89[CEU][hapmap]
rs1790399	0.89[CEU][hapmap];0.80[EUR][1000 genomes]
rs1790404	0.84[CEU][hapmap];0.87[TSI][hapmap];0.82[EUR][1000 genomes]
rs3018184	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4453265	0.89[CEU][hapmap]
rs474835	0.85[CEU][hapmap];0.82[MEX][hapmap];0.89[TSI][hapmap];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs500608	0.85[CEU][hapmap];0.82[MEX][hapmap];0.89[TSI][hapmap];0.82[AMR][1000 genomes]
rs513683	1.00[ASW][hapmap];0.82[MKK][hapmap]
rs575096	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6592545	0.89[CEU][hapmap]
rs6592551	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs826039	0.89[CEU][hapmap]
rs826056	0.89[CEU][hapmap];0.80[EUR][1000 genomes]
rs826061	0.89[CEU][hapmap]
rs826062	0.89[CEU][hapmap];0.87[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 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
3	esv34979	chr11:73878688-74533452	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
4	esv2758277	chr11:73887567-74557597	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1726751	P4HA3	cis	Thyroid	GTEx

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73883000-73902000	Weak transcription	Lung	lung
2	chr11:73883600-73893800	Weak transcription	Left Ventricle	heart
3	chr11:73883600-73895600	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr11:73883600-73901800	Weak transcription	Primary B cells from cord blood	blood
5	chr11:73883600-73901800	Weak transcription	Primary T cells fromperipheralblood	blood
6	chr11:73883600-73901800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr11:73883600-73902000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr11:73883600-73915000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr11:73883600-73915200	Weak transcription	Fetal Muscle Trunk	muscle
10	chr11:73883600-73921000	Weak transcription	Esophagus	oesophagus
11	chr11:73883600-73923200	Weak transcription	Aorta	Aorta
12	chr11:73883800-73890200	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr11:73883800-73898800	Weak transcription	Fetal Thymus	thymus
14	chr11:73883800-73901200	Weak transcription	Primary hematopoietic stem cells	blood
15	chr11:73883800-73901200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr11:73883800-73901600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr11:73883800-73902000	Weak transcription	Fetal Stomach	stomach
18	chr11:73883800-73902200	Weak transcription	Fetal Muscle Leg	muscle
19	chr11:73883800-73902600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr11:73883800-73915000	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr11:73883800-73920000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr11:73883800-73923200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr11:73884000-73902600	Weak transcription	Right Ventricle	heart
24	chr11:73884200-73888800	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr11:73884200-73889000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr11:73884200-73889400	Weak transcription	Fetal Intestine Small	intestine
27	chr11:73884200-73890200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr11:73884200-73890400	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr11:73884200-73890600	Weak transcription	Fetal Brain Female	brain
30	chr11:73884200-73900600	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr11:73884200-73901000	Weak transcription	Primary T cells from cord blood	blood
32	chr11:73884200-73901200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr11:73884200-73901200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr11:73884200-73901400	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr11:73884200-73907000	Weak transcription	Fetal Lung	lung
36	chr11:73884200-73915000	Weak transcription	Brain Anterior Caudate	brain
37	chr11:73884200-73915200	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr11:73884200-73915400	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr11:73884200-73916200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr11:73884200-73917600	Weak transcription	Ovary	ovary
41	chr11:73884200-73920200	Weak transcription	Thymus	Thymus
42	chr11:73884200-73941200	Weak transcription	Rectal Smooth Muscle	rectum
43	chr11:73884200-73941800	Weak transcription	Small Intestine	intestine
44	chr11:73884400-73889000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr11:73884400-73890600	Weak transcription	Osteobl	bone
46	chr11:73884400-73901000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr11:73884400-73902400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr11:73884400-73915200	Weak transcription	Liver	Liver
49	chr11:73884400-73915200	Weak transcription	Duodenum Mucosa	Duodenum
50	chr11:73884800-73893800	Weak transcription	Psoas Muscle	Psoas

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