Variant report

Variant	rs12050953
Chromosome Location	chr16:81491210-81491211
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:81489735..81495358-chr16:81495824..81502529,7	MCF-7	breast:
2	chr16:81490986..81492646-chr16:81531978..81534213,2	MCF-7	breast:
3	chr16:81490358..81492408-chr16:81493886..81495406,2	MCF-7	breast:
4	chr16:81490893..81492885-chr16:81614585..81616374,2	MCF-7	breast:
5	chr16:81484368..81486187-chr16:81489220..81491535,2	MCF-7	breast:
6	chr16:81478464..81481334-chr16:81489889..81494199,4	MCF-7	breast:
7	chr16:81482289..81484303-chr16:81490604..81493407,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000153815	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11861514	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11861583	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11863913	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11865203	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12050950	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12597836	0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs56096714	0.80[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs898965	0.85[ASN][1000 genomes]
rs9939491	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532569	chr16:80980356-81700149	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv1058519	chr16:81177767-81735333	Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
3	nsv948448	chr16:81198147-81906766	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	37 gene(s)	inside rSNPs	diseases
4	esv34108	chr16:81469090-81510471	Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
5	nsv907010	chr16:81488893-81534790	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81481400-81496400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr16:81482000-81507000	Weak transcription	Fetal Heart	heart
3	chr16:81482800-81494400	Genic enhancers	Fetal Intestine Small	intestine
4	chr16:81485200-81492800	Enhancers	Pancreas	Pancrea
5	chr16:81485400-81497000	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr16:81485600-81516800	Weak transcription	Hela-S3	cervix
7	chr16:81486000-81500200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr16:81486400-81501800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr16:81486600-81495800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr16:81486600-81502600	Weak transcription	Fetal Kidney	kidney
11	chr16:81486600-81525200	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr16:81486800-81493600	Weak transcription	Primary T helper cells PMA-I stimulated	--
13	chr16:81487000-81495200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr16:81487000-81500000	Weak transcription	Fetal Lung	lung
15	chr16:81487000-81504400	Weak transcription	Fetal Brain Male	brain
16	chr16:81487000-81507200	Weak transcription	Colon Smooth Muscle	Colon
17	chr16:81487200-81492600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr16:81487200-81496000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr16:81487400-81492000	Genic enhancers	Fetal Thymus	thymus
20	chr16:81487800-81493200	Weak transcription	Left Ventricle	heart
21	chr16:81487800-81493400	Weak transcription	Brain Angular Gyrus	brain
22	chr16:81488400-81494000	Weak transcription	Primary T helper cells fromperipheralblood	blood
23	chr16:81488600-81492400	Enhancers	Stomach Mucosa	stomach
24	chr16:81488600-81494800	Genic enhancers	Esophagus	oesophagus
25	chr16:81488800-81491800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr16:81488800-81492200	Enhancers	H1 Cell Line	embryonic stem cell
27	chr16:81488800-81494000	Strong transcription	Thymus	Thymus
28	chr16:81489000-81491800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr16:81489000-81493800	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr16:81489000-81499200	Strong transcription	Dnd41	blood
31	chr16:81489200-81491600	Weak transcription	Small Intestine	intestine
32	chr16:81489200-81492600	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
33	chr16:81489200-81494600	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
34	chr16:81489200-81495000	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr16:81489400-81491400	Genic enhancers	Gastric	stomach
36	chr16:81489400-81491800	Genic enhancers	HUES6 Cell Line	embryonic stem cell
37	chr16:81489400-81492200	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr16:81489400-81492200	Strong transcription	Fetal Brain Female	brain
39	chr16:81489400-81493400	Genic enhancers	Primary monocytes fromperipheralblood	blood
40	chr16:81489400-81493400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr16:81489400-81493600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr16:81489400-81493800	Strong transcription	Primary T cells from cord blood	blood
43	chr16:81489600-81493800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
44	chr16:81489800-81492000	Genic enhancers	Fetal Muscle Trunk	muscle
45	chr16:81489800-81492800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr16:81489800-81493000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr16:81490000-81493000	Genic enhancers	Lung	lung
48	chr16:81490000-81495000	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
49	chr16:81490200-81491400	Weak transcription	Ovary	ovary
50	chr16:81490200-81491400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum

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