Variant report

Variant	rs766745
Chromosome Location	chr3:111673636-111673637
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TEAD4	chr3:111673269-111673959	SK-N-SH	brain:	n/a	n/a
2	NFIC	chr3:111673291-111673978	SK-N-SH	brain:	n/a	n/a
3	MEF2A	chr3:111673429-111673943	SK-N-SH	brain:	n/a	n/a
4	PBX3	chr3:111673294-111673914	SK-N-SH	brain:	n/a	n/a
5	EP300	chr3:111673288-111673933	SK-N-SH	brain:	n/a	n/a
6	GATA3	chr3:111673357-111673926	SK-N-SH	brain:	n/a	chr3:111673839-111673856
7	GATA3	chr3:111673274-111674081	SK-N-SH	brain:	n/a	chr3:111673839-111673856
8	EP300	chr3:111673421-111673854	SK-N-SH_RA	brain:	n/a	n/a
9	FOXP2	chr3:111673449-111673720	SK-N-MC	brain:	n/a	n/a
10	TCF12	chr3:111673263-111673977	SK-N-SH	brain:	n/a	n/a
11	TCF12	chr3:111673271-111674090	SK-N-SH	brain:	n/a	n/a
12	EP300	chr3:111673433-111673843	SK-N-SH_RA	brain:	n/a	n/a
13	POLR2A	chr3:111673369-111673908	SK-N-SH	brain:	n/a	n/a
14	POLR2A	chr3:111671455-111673754	Hela-S3	cervix:	n/a	n/a
15	EP300	chr3:111673184-111673959	SK-N-SH	brain:	n/a	n/a
16	POLR2A	chr3:111673525-111673770	SK-N-SH	brain:	n/a	n/a
17	PBX3	chr3:111673398-111673967	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:111673398..111675283-chr3:111676915..111679475,3	MCF-7	breast:

Variant related genes	Relation type
PHLDB2	TF binding region

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11713044	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1282939	0.88[EUR][1000 genomes]
rs1282945	0.95[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1282946	1.00[JPT][hapmap]
rs13061421	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16858936	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4682066	0.89[CHB][hapmap];0.91[ASN][1000 genomes]
rs493456	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs579082	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6438024	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6796683	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6804475	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];0.95[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs712514	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs712518	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs712519	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs774744	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9816238	0.89[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs9834695	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs9839401	0.84[ASN][1000 genomes]
rs9867058	0.86[CHB][hapmap];1.00[JPT][hapmap]

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:111637200-111690600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr3:111639200-111675400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr3:111642200-111674400	Weak transcription	Lung	lung
4	chr3:111642200-111690400	Weak transcription	Spleen	Spleen
5	chr3:111645400-111689600	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr3:111648600-111674800	Weak transcription	Psoas Muscle	Psoas
7	chr3:111652400-111685800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr3:111653000-111686200	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr3:111654400-111695000	Strong transcription	Placenta	Placenta
10	chr3:111656600-111674600	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr3:111656600-111679200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr3:111657200-111682000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr3:111657800-111674600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr3:111658600-111697400	Weak transcription	Gastric	stomach
15	chr3:111658800-111685800	Weak transcription	HepG2	liver
16	chr3:111661000-111676000	Weak transcription	Duodenum Mucosa	Duodenum
17	chr3:111661600-111689800	Weak transcription	Ovary	ovary
18	chr3:111663000-111681400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr3:111663200-111675200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr3:111663800-111681200	Strong transcription	NHEK	skin
21	chr3:111665800-111675400	Weak transcription	Right Atrium	heart
22	chr3:111666600-111675200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr3:111666600-111697400	Weak transcription	Esophagus	oesophagus
24	chr3:111667000-111675400	Strong transcription	HSMM	muscle
25	chr3:111667200-111675200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr3:111670800-111685000	Strong transcription	Liver	Liver
27	chr3:111671000-111673800	Strong transcription	Hela-S3	cervix
28	chr3:111671000-111674400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr3:111671000-111681800	Strong transcription	NH-A	brain
30	chr3:111671200-111680800	Weak transcription	A549	lung
31	chr3:111671400-111673800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr3:111671400-111674600	Strong transcription	HSMMtube	muscle
33	chr3:111671400-111675000	Strong transcription	Fetal Muscle Leg	muscle
34	chr3:111671400-111675200	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr3:111671800-111673800	Enhancers	iPS-18 Cell Line	embryonic stem cell
36	chr3:111672000-111673800	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr3:111672000-111675400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr3:111672200-111674000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
39	chr3:111672400-111673800	Enhancers	H1 Cell Line	embryonic stem cell
40	chr3:111672400-111673800	Enhancers	H9 Cell Line	embryonic stem cell
41	chr3:111672400-111673800	Enhancers	HUES6 Cell Line	embryonic stem cell
42	chr3:111672600-111673800	Enhancers	iPS-15b Cell Line	embryonic stem cell
43	chr3:111672600-111674000	Enhancers	HUES64 Cell Line	embryonic stem cell
44	chr3:111672800-111674600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr3:111672800-111674800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr3:111672800-111677800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr3:111672800-111677800	Strong transcription	Left Ventricle	heart
48	chr3:111672800-111677800	Weak transcription	Right Ventricle	heart
49	chr3:111672800-111686000	Weak transcription	Fetal Intestine Small	intestine
50	chr3:111673000-111673800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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