Variant report

Variant	rs28493735
Chromosome Location	chr3:50483228-50483229
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:50483163..50485721-chr3:50593817..50596620,2	MCF-7	breast:
2	chr3:50476158..50479055-chr3:50482835..50485000,3	MCF-7	breast:
3	chr3:50475915..50477869-chr3:50482081..50483825,2	MCF-7	breast:

Extended variants
information (count: 79 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs1034409	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs12494414	1.00[GIH][hapmap]
rs2157328	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs2187815	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs2236966	1.00[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs2236969	0.91[ASN][1000 genomes]
rs2236970	0.91[ASN][1000 genomes]
rs2236972	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs2236976	0.94[ASN][1000 genomes]
rs2236977	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2236978	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2236980	0.97[ASN][1000 genomes]
rs2236982	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs2236985	1.00[CHB][hapmap];0.94[ASN][1000 genomes]
rs2236990	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2282757	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs2282761	0.97[ASN][1000 genomes]
rs28428559	0.91[ASN][1000 genomes]
rs28580410	0.91[ASN][1000 genomes]
rs3213520	1.00[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs58462551	1.00[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs59167171	0.84[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs59619552	0.91[ASN][1000 genomes]
rs60391761	0.91[ASN][1000 genomes]
rs60697422	0.94[ASN][1000 genomes]
rs61493458	0.97[ASN][1000 genomes]
rs6767505	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs73833363	0.91[ASN][1000 genomes]
rs73835503	0.94[ASN][1000 genomes]
rs743754	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs743859	0.85[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap]
rs7626470	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs7642779	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs7647409	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs7649603	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs9311451	0.94[ASN][1000 genomes]
rs9311452	1.00[ASW][hapmap]
rs9311453	0.94[ASN][1000 genomes]
rs9311455	0.94[ASN][1000 genomes]
rs9812540	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs9814606	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs9815761	1.00[YRI][hapmap]
rs9817768	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs9826083	1.00[YRI][hapmap]
rs9828829	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs9829599	0.81[AFR][1000 genomes]
rs9832993	0.97[ASN][1000 genomes]
rs9834579	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs9834856	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs9837658	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs9837861	0.91[ASN][1000 genomes]
rs9838849	1.00[YRI][hapmap]
rs9839266	1.00[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs9839996	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs9843693	0.97[ASN][1000 genomes]
rs9854585	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs9858351	0.81[AFR][1000 genomes]
rs9863307	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs9863857	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[ASN][1000 genomes]
rs9875233	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs9880285	0.97[ASN][1000 genomes]
rs9883635	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs9990256	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv523662	chr3:50144951-50584999	Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
2	esv1821728	chr3:50156142-50657253	Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
3	esv1828162	chr3:50157364-50506151	Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
4	nsv470561	chr3:50158774-50584999	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
5	nsv876770	chr3:50158774-50609624	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
6	nsv1001993	chr3:50187646-50640808	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
7	nsv834693	chr3:50302830-50507964	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
8	nsv876775	chr3:50324672-50504896	Flanking Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
9	esv3584502	chr3:50368278-50659741	Strong transcription Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
10	nsv432419	chr3:50388396-50637496	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
11	nsv1013225	chr3:50440826-50700448	Flanking Active TSS Enhancers Genic enhancers Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
12	nsv536566	chr3:50440826-50700448	Genic enhancers Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
13	esv3445182	chr3:50458687-50496660	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
14	nsv984540	chr3:50473691-50669310	Enhancers Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
15	nsv1012501	chr3:50483037-50679591	Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
16	nsv536567	chr3:50483037-50679591	Bivalent Enhancer Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:50465600-50485800	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr3:50465800-50487000	Weak transcription	Fetal Intestine Small	intestine
3	chr3:50473200-50483800	Enhancers	Fetal Muscle Leg	muscle
4	chr3:50474000-50487400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr3:50475400-50484200	Weak transcription	Spleen	Spleen
6	chr3:50477800-50486400	Enhancers	Fetal Muscle Trunk	muscle
7	chr3:50479000-50485000	Enhancers	Gastric	stomach
8	chr3:50479800-50487800	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr3:50481200-50486600	Weak transcription	Brain Anterior Caudate	brain
10	chr3:50481200-50487000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr3:50481200-50487000	Weak transcription	Right Ventricle	heart
12	chr3:50481400-50487800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr3:50481800-50483800	Weak transcription	Placenta	Placenta
14	chr3:50481800-50488200	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr3:50482000-50484400	Enhancers	Rectal Mucosa Donor 31	rectum
16	chr3:50482200-50483400	Enhancers	Fetal Lung	lung
17	chr3:50482200-50485600	Enhancers	Stomach Mucosa	stomach
18	chr3:50482200-50487400	Weak transcription	Brain Angular Gyrus	brain
19	chr3:50482200-50487400	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr3:50482200-50493400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr3:50482400-50484800	Enhancers	Liver	Liver
22	chr3:50482400-50486000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr3:50482800-50483800	Weak transcription	Lung	lung
24	chr3:50482800-50483800	Enhancers	A549	lung
25	chr3:50482800-50483800	Enhancers	HepG2	liver
26	chr3:50483200-50484000	Enhancers	Pancreas	Pancrea

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