Variant report

Variant	rs16986419
Chromosome Location	chr22:28823804-28823805
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:28822807..28825089-chr22:28828266..28830799,2	MCF-7	breast:

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10483149	0.93[AFR][1000 genomes]
rs16986374	0.93[AFR][1000 genomes]
rs16986390	0.93[AFR][1000 genomes]
rs16986392	0.93[AFR][1000 genomes]
rs16986403	0.93[AFR][1000 genomes]
rs16986405	0.93[AFR][1000 genomes]
rs16986408	0.93[AFR][1000 genomes]
rs16986409	0.93[AFR][1000 genomes]
rs16986410	0.93[AFR][1000 genomes]
rs16986422	0.93[AFR][1000 genomes]
rs16986425	0.93[AFR][1000 genomes]
rs16986435	0.90[AFR][1000 genomes]
rs16986449	0.90[AFR][1000 genomes]
rs16986454	0.90[AFR][1000 genomes]
rs16986458	0.84[AFR][1000 genomes]
rs16986471	0.90[AFR][1000 genomes]
rs16986480	0.90[AFR][1000 genomes]
rs16986487	0.90[AFR][1000 genomes]
rs16986494	0.90[AFR][1000 genomes]
rs16986542	0.90[AFR][1000 genomes]
rs16986546	0.90[AFR][1000 genomes]
rs17881716	0.84[AFR][1000 genomes]
rs58065411	0.90[AFR][1000 genomes]
rs58858940	0.90[AFR][1000 genomes]
rs59463287	0.90[AFR][1000 genomes]
rs60435869	0.90[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062877	chr22:28163507-28866350	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv1067544	chr22:28755418-29055246	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
3	nsv544674	chr22:28755418-29055246	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
4	nsv588880	chr22:28807277-29001789	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:28816200-28826400	Weak transcription	Stomach Mucosa	stomach
2	chr22:28818000-28825200	Weak transcription	Fetal Brain Male	brain
3	chr22:28820800-28837400	Weak transcription	HSMMtube	muscle
4	chr22:28821000-28826200	Weak transcription	Fetal Brain Female	brain
5	chr22:28821000-28829000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr22:28821400-28825000	Weak transcription	Brain Germinal Matrix	brain
7	chr22:28821400-28825800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr22:28821400-28825800	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr22:28821400-28831200	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr22:28821400-28836600	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr22:28821600-28826200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr22:28821600-28828400	Weak transcription	Dnd41	blood
13	chr22:28821600-28829000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr22:28822000-28826600	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr22:28822200-28837800	Weak transcription	Left Ventricle	heart
16	chr22:28822800-28825200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr22:28822800-28826600	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr22:28822800-28826800	Weak transcription	Psoas Muscle	Psoas
19	chr22:28822800-28828800	Weak transcription	Gastric	stomach
20	chr22:28823000-28825200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr22:28823000-28825800	Weak transcription	Adipose Nuclei	Adipose
22	chr22:28823000-28825800	Weak transcription	Fetal Lung	lung
23	chr22:28823000-28826400	Weak transcription	Ovary	ovary
24	chr22:28823000-28826400	Weak transcription	NHDF-Ad	bronchial
25	chr22:28823000-28826800	Weak transcription	Colon Smooth Muscle	Colon
26	chr22:28823000-28837000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr22:28823200-28825400	Weak transcription	Osteobl	bone
28	chr22:28823200-28826800	Weak transcription	HepG2	liver
29	chr22:28823400-28825200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr22:28823400-28825400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr22:28823600-28825000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr22:28823600-28826800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr22:28823600-28827000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr22:28823600-28828800	Weak transcription	Right Ventricle	heart
35	chr22:28823800-28824200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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