Variant report

Variant	rs2049501
Chromosome Location	chr3:119319821-119319822
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:119319313..119321262-chr3:119322045..119324226,2	MCF-7	breast:

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10433338	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13443	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1525838	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1534154	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1723969	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1797831	0.96[ASN][1000 genomes]
rs1797832	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs20569	0.80[EUR][1000 genomes]
rs2171025	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2248483	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2251566	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2272267	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2272268	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2272269	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2272270	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2629399	0.96[ASN][1000 genomes]
rs2629400	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2629408	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2670293	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2670298	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2688637	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2688638	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2688639	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2688646	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2688647	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2688648	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2692612	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2692613	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2692614	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2692615	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2692621	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2692623	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs474926	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs485257	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs487124	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs528765	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs530389	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs530783	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs536624	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs538136	0.97[ASN][1000 genomes]
rs551885	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs555525	1.00[ASN][1000 genomes]
rs55670246	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55801535	0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56197198	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs58020513	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs593968	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs666134	0.95[ASN][1000 genomes]
rs6807201	0.96[ASN][1000 genomes]
rs6807613	0.94[ASN][1000 genomes]
rs72954966	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3487859	chr3:118570588-119419623	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	esv3487860	chr3:118570588-119419623	Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	nsv829695	chr3:119178890-119367996	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	esv1831824	chr3:119263607-119402474	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	nsv3963	chr3:119301064-119345904	Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv591363	chr3:119316828-119345950	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:119315000-119320200	Enhancers	Left Ventricle	heart
2	chr3:119316200-119340600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr3:119316400-119320600	Flanking Active TSS	GM12878-XiMat	blood
4	chr3:119316600-119320200	Enhancers	Right Ventricle	heart
5	chr3:119317000-119323800	Weak transcription	HSMMtube	muscle
6	chr3:119317200-119320200	Enhancers	Right Atrium	heart
7	chr3:119317200-119321200	Weak transcription	HUVEC	blood vessel
8	chr3:119317400-119320200	Enhancers	Lung	lung
9	chr3:119317600-119320000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr3:119317600-119327800	Weak transcription	Fetal Intestine Small	intestine
11	chr3:119318000-119320600	Enhancers	Fetal Heart	heart
12	chr3:119318400-119321600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr3:119318400-119321600	Weak transcription	Gastric	stomach
14	chr3:119318400-119321800	Weak transcription	Pancreas	Pancrea
15	chr3:119318600-119344200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr3:119318800-119327800	Weak transcription	Liver	Liver
17	chr3:119319000-119321600	Weak transcription	Adipose Nuclei	Adipose
18	chr3:119319200-119320000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
19	chr3:119319400-119320000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
20	chr3:119319400-119320200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr3:119319400-119320200	Enhancers	Placenta	Placenta
22	chr3:119319400-119320400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
23	chr3:119319400-119320600	Enhancers	Skeletal Muscle Male	skeletal muscle
24	chr3:119319600-119320000	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr3:119319600-119320000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr3:119319600-119320000	Enhancers	Primary B cells from peripheral blood	blood
27	chr3:119319600-119320000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
28	chr3:119319600-119320000	Enhancers	Psoas Muscle	Psoas
29	chr3:119319600-119320000	Enhancers	Spleen	Spleen
30	chr3:119319600-119321800	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr3:119319800-119320000	Enhancers	Skeletal Muscle Female	skeletal muscle
32	chr3:119319800-119320200	Enhancers	H1 Cell Line	embryonic stem cell
33	chr3:119319800-119320200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr3:119319800-119320200	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr3:119319800-119320200	Enhancers	HepG2	liver
36	chr3:119319800-119320400	Enhancers	Fetal Lung	lung
37	chr3:119319800-119321800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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