Variant report

Variant	rs17006443
Chromosome Location	chr3:20031259-20031260
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:20029851..20032501-chr3:20180308..20182516,2	K562	blood:

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10510497	1.00[YRI][hapmap];0.88[AFR][1000 genomes]
rs12486526	1.00[YRI][hapmap];0.88[AFR][1000 genomes]
rs12495866	0.88[AFR][1000 genomes]
rs13319903	0.82[AFR][1000 genomes]
rs17006416	0.84[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes]
rs17006418	0.97[AFR][1000 genomes]
rs17006433	0.97[AFR][1000 genomes]
rs17006435	0.84[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes]
rs28525232	0.82[AFR][1000 genomes]
rs4241539	0.84[ASW][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes]
rs4858632	0.88[AFR][1000 genomes]
rs56994247	0.97[AFR][1000 genomes]
rs57181336	0.97[AFR][1000 genomes]
rs57382802	0.97[AFR][1000 genomes]
rs57584064	0.85[AFR][1000 genomes]
rs57771037	0.80[AFR][1000 genomes]
rs58529752	0.80[AFR][1000 genomes]
rs58545026	0.80[AFR][1000 genomes]
rs58731891	0.85[AFR][1000 genomes]
rs59301227	0.85[AFR][1000 genomes]
rs59361244	0.97[AFR][1000 genomes]
rs61255313	0.97[AFR][1000 genomes]
rs61369715	0.80[AFR][1000 genomes]
rs62241286	0.88[AFR][1000 genomes]
rs62241316	0.88[AFR][1000 genomes]
rs62241322	0.88[AFR][1000 genomes]
rs6802632	0.86[YRI][hapmap]
rs9822900	0.82[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1828161	chr3:19547184-20062060	Flanking Active TSS Genic enhancers Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	esv1825914	chr3:19549859-20137270	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	esv1833006	chr3:19562271-20389045	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	esv1826570	chr3:19579860-20077414	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	esv1833139	chr3:19579860-20121349	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
6	esv1826254	chr3:19592688-20042834	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	nsv1010613	chr3:19942032-20461486	Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
8	esv1826030	chr3:19972766-20170581	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
9	esv1825988	chr3:19976375-20102773	Flanking Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
10	esv1826830	chr3:19982972-20632072	Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
11	nsv997486	chr3:20006702-20113989	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
12	esv1829542	chr3:20009231-20384627	Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:20008800-20035600	Weak transcription	Psoas Muscle	Psoas
2	chr3:20012400-20033600	Weak transcription	Fetal Brain Male	brain
3	chr3:20023000-20045800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr3:20024000-20041400	Weak transcription	Ovary	ovary
5	chr3:20024200-20031800	Weak transcription	Left Ventricle	heart
6	chr3:20024200-20033200	Weak transcription	Brain Cingulate Gyrus	brain
7	chr3:20024200-20033400	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr3:20024200-20036800	Weak transcription	Aorta	Aorta
9	chr3:20024200-20051400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr3:20024400-20034000	Weak transcription	Brain Germinal Matrix	brain
11	chr3:20024800-20031600	Weak transcription	Lung	lung
12	chr3:20024800-20031800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr3:20025400-20031800	Weak transcription	Fetal Brain Female	brain
14	chr3:20025400-20033200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr3:20025600-20033400	Weak transcription	Brain Angular Gyrus	brain
16	chr3:20026400-20040800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr3:20026800-20031800	Weak transcription	Primary neutrophils fromperipheralblood	blood
18	chr3:20027000-20031800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr3:20027200-20033000	Weak transcription	Fetal Intestine Large	intestine
20	chr3:20027400-20036200	Weak transcription	NH-A	brain
21	chr3:20027600-20032000	Weak transcription	Primary T cells from cord blood	blood
22	chr3:20027600-20033400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr3:20027600-20033400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr3:20027600-20036000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr3:20028000-20031800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr3:20029800-20031400	Weak transcription	Liver	Liver
27	chr3:20029800-20031400	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr3:20030000-20035000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr3:20030000-20038600	Weak transcription	Fetal Thymus	thymus

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