Variant report

Variant	rs3773224
Chromosome Location	chr3:78720037-78720038
allele	A/G
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	POLR2A	chr3:78719849-78720049	MCF10A-Er-Src	breast:	n/a	n/a
2	CEBPB	chr3:78719842-78720086	HepG2	liver:	n/a	chr3:78719960-78719971 chr3:78719962-78719971 chr3:78719962-78719971 chr3:78719875-78719888

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:78719848..78721355-chr3:79557573..79560044,2	K562	blood:

Variant related genes	Relation type
ROBO1	TF binding region

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs10049014	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10049102	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10428105	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11915494	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11915745	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11917512	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11918759	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11920344	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11925970	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11927666	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11928868	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12106862	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1395784	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17016453	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17016466	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17303276	0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17375110	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17375496	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17375739	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2031051	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2118068	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2271151	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28494803	0.83[ASN][1000 genomes]
rs3732662	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3732663	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3773225	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3773226	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3773227	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3773231	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3821601	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4263256	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56372508	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58561177	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60568341	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60749216	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61053911	0.85[EUR][1000 genomes]
rs67137735	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs67347336	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs67362360	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs67498832	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6769933	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6787349	0.84[ASN][1000 genomes]
rs6788434	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6788511	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6806079	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73109717	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73109772	0.81[ASN][1000 genomes]
rs73850750	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7610500	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7610686	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7613490	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7616495	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7622194	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7624482	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7653782	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs767182	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9309810	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9309811	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9309814	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9808950	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9818170	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9819398	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9823359	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9829907	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9831098	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9840004	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9880072	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9880316	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9882811	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9883582	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[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	nsv529995	chr3:78188643-78739698	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv1008156	chr3:78444137-78765884	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:78654200-78746600	Weak transcription	NHDF-Ad	bronchial
2	chr3:78667200-78751200	Weak transcription	Esophagus	oesophagus
3	chr3:78676800-78730600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr3:78679200-78720800	Weak transcription	Aorta	Aorta
5	chr3:78679200-78733200	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr3:78679400-78730600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr3:78679400-78736600	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr3:78680400-78723600	Weak transcription	Fetal Muscle Leg	muscle
9	chr3:78682800-78720200	Weak transcription	Adipose Nuclei	Adipose
10	chr3:78693400-78730800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr3:78694200-78730600	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr3:78694400-78733200	Weak transcription	Fetal Kidney	kidney
13	chr3:78702800-78730600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr3:78703200-78739200	Weak transcription	Fetal Muscle Trunk	muscle
15	chr3:78705400-78723000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr3:78706400-78723600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr3:78706400-78736200	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr3:78706600-78735200	Weak transcription	Primary T cells from cord blood	blood
19	chr3:78706600-78736400	Weak transcription	Stomach Smooth Muscle	stomach
20	chr3:78707000-78735400	Weak transcription	Rectal Smooth Muscle	rectum
21	chr3:78711800-78723600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr3:78711800-78726800	Weak transcription	Fetal Stomach	stomach
23	chr3:78716000-78724800	Weak transcription	HSMM	muscle
24	chr3:78716000-78739600	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr3:78716200-78720800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr3:78716600-78733000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr3:78717600-78720800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr3:78717600-78721000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr3:78717600-78721400	Weak transcription	NHEK	skin
30	chr3:78717600-78723400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr3:78717600-78724000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr3:78717600-78733200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr3:78717600-78739600	Weak transcription	Osteobl	bone
34	chr3:78717800-78723600	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr3:78717800-78736800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr3:78717800-78745200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr3:78717800-78748400	Weak transcription	Ovary	ovary
38	chr3:78718600-78739200	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr3:78718800-78720200	Active TSS	Brain Germinal Matrix	brain
40	chr3:78719000-78721400	Enhancers	Fetal Brain Male	brain
41	chr3:78719400-78723200	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr3:78719400-78730400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr3:78719400-78736800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr3:78719600-78720200	Enhancers	Brain Angular Gyrus	brain
45	chr3:78719600-78730600	Weak transcription	HepG2	liver
46	chr3:78719600-78753000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr3:78719800-78720200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr3:78719800-78720200	Enhancers	Brain Cingulate Gyrus	brain
49	chr3:78719800-78720200	Enhancers	Brain Inferior Temporal Lobe	brain
50	chr3:78719800-78720200	Enhancers	Brain Substantia Nigra	brain

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