Variant report

Variant	rs2007567
Chromosome Location	chr11:73738289-73738290
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:73692646..73695519-chr11:73738092..73741151,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000175567	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10898954	0.81[ASN][1000 genomes]
rs1614299	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1615115	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1685326	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1726735	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1726744	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1726752	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1726764	0.87[ASN][1000 genomes]
rs1790381	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1790398	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1790399	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1790404	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4453265	0.82[ASN][1000 genomes]
rs4944036	0.85[ASN][1000 genomes]
rs4944038	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4944878	0.82[ASN][1000 genomes]
rs6592545	0.82[ASN][1000 genomes]
rs7121868	0.82[ASN][1000 genomes]
rs826033	0.87[ASN][1000 genomes]
rs826039	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs826056	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs826061	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs826062	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs826066	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[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	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
2	nsv976527	chr11:73728292-73738902	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2007567	P4HA3	cis	Thyroid	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73710600-73741800	Weak transcription	Fetal Kidney	kidney
2	chr11:73710600-73748800	Weak transcription	Fetal Brain Male	brain
3	chr11:73712200-73743600	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr11:73712200-73743800	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr11:73712800-73743400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr11:73720000-73743400	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr11:73721800-73743000	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr11:73722000-73744000	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr11:73722200-73767200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr11:73724800-73746800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr11:73725400-73740200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr11:73728000-73741200	Weak transcription	Aorta	Aorta
13	chr11:73728000-73755000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr11:73728400-73738400	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr11:73728600-73738600	Weak transcription	Dnd41	blood
16	chr11:73729000-73742000	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr11:73729200-73740000	Weak transcription	Fetal Lung	lung
18	chr11:73730400-73738400	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr11:73730600-73741400	Weak transcription	Hela-S3	cervix
20	chr11:73730600-73743400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr11:73730800-73742800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr11:73730800-73745400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr11:73730800-73800800	Weak transcription	Fetal Heart	heart
24	chr11:73731000-73742600	Weak transcription	Esophagus	oesophagus
25	chr11:73731200-73743800	Weak transcription	Rectal Smooth Muscle	rectum
26	chr11:73731200-73744800	Weak transcription	HepG2	liver
27	chr11:73731400-73739000	Weak transcription	Pancreas	Pancrea
28	chr11:73731400-73741400	Weak transcription	Brain Angular Gyrus	brain
29	chr11:73731400-73741400	Weak transcription	Gastric	stomach
30	chr11:73731400-73743800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr11:73731400-73744000	Weak transcription	Colon Smooth Muscle	Colon
32	chr11:73731400-73750800	Strong transcription	Fetal Muscle Leg	muscle
33	chr11:73731800-73738600	Weak transcription	Right Atrium	heart
34	chr11:73731800-73740000	Weak transcription	Right Ventricle	heart
35	chr11:73732000-73752400	Weak transcription	Small Intestine	intestine
36	chr11:73732200-73739000	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr11:73732200-73741600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr11:73732200-73744000	Weak transcription	Colonic Mucosa	Colon
39	chr11:73732600-73741400	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr11:73733600-73740000	Weak transcription	Brain Anterior Caudate	brain
41	chr11:73734000-73741400	Weak transcription	Primary hematopoietic stem cells	blood
42	chr11:73734000-73743000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr11:73734400-73743600	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr11:73734600-73754400	Weak transcription	Pancreatic Islets	Pancreatic Islet
45	chr11:73735000-73738400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr11:73735000-73738600	Enhancers	HUVEC	blood vessel
47	chr11:73735400-73738400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr11:73735400-73738400	Enhancers	HMEC	breast
49	chr11:73735400-73738400	Enhancers	NHLF	lung
50	chr11:73735600-73742400	Weak transcription	Liver	Liver

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