Variant report

Variant	rs16830569
Chromosome Location	chr2:189651997-189651998
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:189469579..189472035-chr2:189650010..189652348,2	MCF-7	breast:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10497693	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16830367	1.00[AMR][1000 genomes]
rs16830384	1.00[AMR][1000 genomes]
rs16830391	1.00[AMR][1000 genomes]
rs16830433	1.00[AMR][1000 genomes]
rs16830479	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16830491	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16830512	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16830517	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16830522	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16830548	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16830553	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16830566	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57540882	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59204316	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73037423	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73037433	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73048243	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73048244	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73048252	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003974	chr2:189331760-189827814	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv1000932	chr2:189542210-189677277	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv536088	chr2:189542210-189677277	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv875606	chr2:189579045-189688463	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv875607	chr2:189579045-189711790	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv1008847	chr2:189603961-189769705	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv997454	chr2:189615728-189770133	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv1002175	chr2:189615728-189776301	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:189648400-189653400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr2:189649000-189652800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr2:189650200-189652000	Enhancers	NHLF	lung
4	chr2:189650400-189653600	Enhancers	Fetal Stomach	stomach
5	chr2:189650400-189653800	Enhancers	Fetal Heart	heart
6	chr2:189650400-189654000	Enhancers	NH-A	brain
7	chr2:189650600-189653000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr2:189650800-189652000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr2:189650800-189652400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
10	chr2:189650800-189653200	Enhancers	HUVEC	blood vessel
11	chr2:189650800-189653800	Enhancers	NHEK	skin
12	chr2:189651000-189652000	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr2:189651000-189652000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr2:189651000-189653400	Active TSS	Stomach Smooth Muscle	stomach
15	chr2:189651000-189653600	Enhancers	Rectal Smooth Muscle	rectum
16	chr2:189651200-189652000	Active TSS	Adipose Nuclei	Adipose
17	chr2:189651200-189652600	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr2:189651200-189652800	Flanking Active TSS	HSMMtube	muscle
19	chr2:189651200-189652800	Flanking Active TSS	Osteobl	bone
20	chr2:189651200-189653000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr2:189651200-189653400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr2:189651200-189653400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr2:189651200-189653600	Enhancers	HMEC	breast
24	chr2:189651200-189653800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr2:189651200-189653800	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr2:189651400-189652200	Active TSS	Duodenum Smooth Muscle	Duodenum
27	chr2:189651400-189652600	Active TSS	Aorta	Aorta
28	chr2:189651400-189652600	Active TSS	Colon Smooth Muscle	Colon
29	chr2:189651400-189653600	Enhancers	A549	lung
30	chr2:189651400-189653800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr2:189651600-189652000	Enhancers	Fetal Kidney	kidney
32	chr2:189651600-189652400	Weak transcription	Fetal Muscle Leg	muscle
33	chr2:189651600-189652600	Active TSS	Right Atrium	heart
34	chr2:189651600-189652800	Active TSS	Ovary	ovary
35	chr2:189651600-189653400	Flanking Active TSS	NHDF-Ad	bronchial
36	chr2:189651800-189652200	Active TSS	Psoas Muscle	Psoas
37	chr2:189651800-189652200	Flanking Active TSS	HSMM	muscle
38	chr2:189651800-189652800	Flanking Active TSS	Fetal Lung	lung
39	chr2:189651800-189653400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr2:189651800-189653800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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