Variant report

Variant	rs73069992
Chromosome Location	chr3:46594347-46594348
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	chr3:46594222-46594410	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:46569161..46571710-chr3:46593876..46596679,2	K562	blood:

Variant related genes	Relation type
ENSG00000264306	TF binding region
ENSG00000268324	TF binding region

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs2280408	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2280409	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2280410	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2280413	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2280414	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2293021	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2293022	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2293023	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2293024	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2293025	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28617572	0.83[ASN][1000 genomes]
rs3189859	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3806704	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3827493	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4312690	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55649212	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs55693118	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs55736632	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55763532	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs55923987	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs55955974	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55957516	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56008703	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56048308	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56163098	0.84[AMR][1000 genomes]
rs56168669	0.84[AMR][1000 genomes]
rs56188400	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56197743	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56394040	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56398705	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56695799	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58177689	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58551379	0.84[AMR][1000 genomes]
rs58572135	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59673973	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59836693	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73069984	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73069987	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73069989	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73069996	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73069997	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73071917	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73071919	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73071930	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73071938	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73072002	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73073732	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73073734	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73073742	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73073744	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73073745	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73073746	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73073750	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73073752	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73073753	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73073754	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73073755	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73075515	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73075519	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73075524	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73075528	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73075540	0.83[AMR][1000 genomes]
rs73075543	0.83[AMR][1000 genomes]
rs73075564	0.96[AMR][1000 genomes]
rs73075571	0.96[AMR][1000 genomes]
rs73077539	0.84[AMR][1000 genomes]
rs73077544	0.84[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1013306	chr3:46469014-46698538	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv876737	chr3:46569721-46595431	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	esv3344338	chr3:46594033-46594364	Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:46544800-46599400	Weak transcription	Right Atrium	heart
2	chr3:46578400-46599200	Weak transcription	HSMMtube	muscle
3	chr3:46581200-46599200	Weak transcription	Fetal Heart	heart
4	chr3:46581400-46594400	Enhancers	Fetal Thymus	thymus
5	chr3:46581600-46599400	Weak transcription	Spleen	Spleen
6	chr3:46584400-46598000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr3:46584800-46594400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr3:46586800-46594800	Weak transcription	Liver	Liver
9	chr3:46587200-46598800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr3:46587800-46597400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr3:46587800-46599600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr3:46588400-46599600	Weak transcription	Rectal Smooth Muscle	rectum
13	chr3:46591000-46599400	Weak transcription	Colon Smooth Muscle	Colon
14	chr3:46591000-46599600	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr3:46591200-46599000	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr3:46591400-46598400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr3:46591400-46598800	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr3:46591400-46599200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr3:46591400-46599200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr3:46591400-46599200	Weak transcription	Gastric	stomach
21	chr3:46591400-46599200	Weak transcription	Right Ventricle	heart
22	chr3:46591400-46599400	Weak transcription	Lung	lung
23	chr3:46591400-46600200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr3:46591600-46599800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr3:46591600-46600000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr3:46591800-46594400	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr3:46591800-46595000	Enhancers	Dnd41	blood
28	chr3:46591800-46606600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr3:46592600-46599200	Weak transcription	Thymus	Thymus
30	chr3:46592800-46599200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr3:46592800-46599200	Weak transcription	Primary T cells from cord blood	blood
32	chr3:46593000-46595200	Enhancers	Muscle Satellite Cultured Cells	--
33	chr3:46593000-46595400	Enhancers	Skeletal Muscle Male	skeletal muscle
34	chr3:46593000-46595600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr3:46593000-46598800	Weak transcription	NHLF	lung
36	chr3:46593000-46599200	Weak transcription	K562	blood
37	chr3:46593000-46600200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr3:46593200-46595600	Enhancers	Skeletal Muscle Female	skeletal muscle
39	chr3:46593200-46600000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr3:46593200-46600000	Weak transcription	Ovary	ovary
41	chr3:46593400-46595400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr3:46593600-46594400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr3:46593600-46595600	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr3:46593800-46595800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr3:46594000-46594600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr3:46594000-46594600	Enhancers	Psoas Muscle	Psoas
47	chr3:46594000-46595200	Enhancers	Adipose Nuclei	Adipose
48	chr3:46594000-46595200	Enhancers	NHDF-Ad	bronchial
49	chr3:46594200-46594400	Enhancers	Esophagus	oesophagus
50	chr3:46594200-46595000	Weak transcription	Left Ventricle	heart

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