Variant report

Variant	rs1726752
Chromosome Location	chr11:73846845-73846846
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:12)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:12 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA3	chr11:73846212-73846925	MCF-7	breast:	n/a	n/a
2	GATA3	chr11:73846626-73846987	T-47D	breast:	n/a	n/a
3	GATA3	chr11:73846127-73847157	SK-N-SH	brain:	n/a	n/a
4	POLR2A	chr11:73846202-73846939	SK-N-SH	brain:	n/a	n/a
5	EP300	chr11:73846120-73846960	A549	lung:	n/a	n/a
6	GATA3	chr11:73846219-73847107	MCF-7	breast:	n/a	n/a
7	GATA3	chr11:73846730-73847047	T-47D	breast:	n/a	n/a
8	GATA3	chr11:73846213-73847066	SK-N-SH	brain:	n/a	n/a
9	KAP1	chr11:73846193-73847042	U2OS	brain:	n/a	n/a
10	KAP1	chr11:73846163-73846920	HEK293	kidney:	n/a	n/a
11	SP1	chr11:73846210-73847029	HCT-116	colon:	n/a	n/a
12	EP300	chr11:73846145-73846874	SK-N-SH	brain:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:73721341..73724009-chr11:73846427..73849046,2	K562	blood:
2	chr11:73781184..73783085-chr11:73845837..73847589,2	MCF-7	breast:
3	chr11:73846193..73847795-chr11:73848289..73850687,2	MCF-7	breast:
4	chr11:73691531..73694874-chr11:73846318..73851293,5	MCF-7	breast:

No data

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

Extended variants
information (count: 33 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10898954	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1614299	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1615115	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1726735	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1726744	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1726746	0.85[AFR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1726751	0.83[EUR][1000 genomes]
rs1783537	0.81[EUR][1000 genomes]
rs1790381	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1790398	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1790399	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1790404	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2007567	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3018184	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4453265	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs474835	0.91[AFR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4944036	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4944038	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4944878	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs500608	0.87[AFR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs575096	0.82[AFR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6592545	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6592551	0.84[EUR][1000 genomes]
rs7121868	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7483884	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs826033	0.89[ASN][1000 genomes]
rs826039	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs826056	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs826061	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs826062	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs826066	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][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
rs1726752	P4HA3	cis	Thyroid	GTEx

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73781800-73849200	Weak transcription	Stomach Mucosa	stomach
2	chr11:73802200-73880800	Weak transcription	Esophagus	oesophagus
3	chr11:73804000-73880800	Weak transcription	Aorta	Aorta
4	chr11:73809800-73847200	Weak transcription	HepG2	liver
5	chr11:73812000-73849000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr11:73817600-73849200	Weak transcription	NHLF	lung
7	chr11:73817600-73880800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr11:73824400-73852400	Weak transcription	Colonic Mucosa	Colon
9	chr11:73825000-73880400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr11:73825600-73847400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr11:73825800-73878600	Weak transcription	Fetal Brain Male	brain
12	chr11:73829400-73849400	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr11:73829400-73873800	Weak transcription	Right Ventricle	heart
14	chr11:73833200-73852800	Weak transcription	Pancreas	Pancrea
15	chr11:73833400-73847200	Weak transcription	Brain Cingulate Gyrus	brain
16	chr11:73833400-73849600	Weak transcription	Stomach Smooth Muscle	stomach
17	chr11:73833600-73849000	Weak transcription	Fetal Heart	heart
18	chr11:73833800-73849200	Weak transcription	Colon Smooth Muscle	Colon
19	chr11:73838000-73849400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr11:73840000-73850800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr11:73841000-73850800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
22	chr11:73841200-73847600	Strong transcription	Fetal Muscle Leg	muscle
23	chr11:73841200-73849600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr11:73841200-73850600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr11:73841200-73850800	Strong transcription	Primary B cells from peripheral blood	blood
26	chr11:73841200-73851000	Strong transcription	Primary T cells fromperipheralblood	blood
27	chr11:73841400-73848400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr11:73841400-73850800	Strong transcription	Fetal Thymus	thymus
29	chr11:73841400-73850800	Strong transcription	Dnd41	blood
30	chr11:73841400-73851800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
31	chr11:73841600-73849000	Strong transcription	HSMM	muscle
32	chr11:73841600-73850800	Strong transcription	Primary B cells from cord blood	blood
33	chr11:73841800-73850800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr11:73841800-73859800	Weak transcription	Small Intestine	intestine
35	chr11:73842000-73848000	Strong transcription	HUES48 Cell Line	embryonic stem cell
36	chr11:73842200-73848400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr11:73842200-73849600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr11:73842200-73850400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr11:73842200-73852200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr11:73842400-73850200	Strong transcription	Primary neutrophils fromperipheralblood	blood
41	chr11:73842600-73847800	Strong transcription	Fetal Lung	lung
42	chr11:73842600-73848000	Strong transcription	Primary T cells from cord blood	blood
43	chr11:73842600-73848000	Strong transcription	Sigmoid Colon	Sigmoid Colon
44	chr11:73842600-73850200	Strong transcription	Primary monocytes fromperipheralblood	blood
45	chr11:73843200-73847800	Strong transcription	Left Ventricle	heart
46	chr11:73843400-73847200	Weak transcription	Gastric	stomach
47	chr11:73843400-73848000	Strong transcription	Hela-S3	cervix
48	chr11:73843400-73849200	Weak transcription	Fetal Intestine Small	intestine
49	chr11:73843400-73851400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr11:73843400-73867200	Weak transcription	Fetal Stomach	stomach

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