Variant report

Variant	rs7193129
Chromosome Location	chr16:79674194-79674195
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:79672405..79675476-chr16:79684615..79687240,3	MCF-7	breast:
2	chr16:79669312..79671959-chr16:79673803..79675378,2	K562	blood:
3	chr16:79673720..79676616-chr16:79676975..79679637,2	MCF-7	breast:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12599059	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12933824	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12934717	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs35941061	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs67361426	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7196770	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72808503	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9923929	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9935017	0.97[AMR][1000 genomes];0.95[EUR][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	nsv573285	chr16:79158182-80127326	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv833295	chr16:79568878-79726768	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv906992	chr16:79649394-79769790	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv530714	chr16:79661581-79925435	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:79666400-79682200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr16:79668600-79674800	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr16:79672400-79675000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr16:79672600-79674400	Weak transcription	Ovary	ovary
5	chr16:79672800-79674600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
6	chr16:79673000-79674400	Enhancers	Fetal Thymus	thymus
7	chr16:79673200-79674600	Enhancers	Primary hematopoietic stem cells	blood
8	chr16:79673200-79674600	Enhancers	Primary T helper cells PMA-I stimulated	--
9	chr16:79673400-79674200	Enhancers	Placenta	Placenta
10	chr16:79673400-79674400	Enhancers	Primary T helper cells fromperipheralblood	blood
11	chr16:79673400-79674400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr16:79673400-79674400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr16:79673400-79674600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr16:79673400-79674600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr16:79673400-79674600	Enhancers	Brain Germinal Matrix	brain
16	chr16:79673400-79674800	Enhancers	Primary T killer memory cells from peripheral blood	blood
17	chr16:79673400-79675200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr16:79673400-79675400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
19	chr16:79673400-79675400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr16:79673400-79676400	Enhancers	Primary T cells fromperipheralblood	blood
21	chr16:79673600-79674200	Enhancers	NHDF-Ad	bronchial
22	chr16:79673600-79674400	Enhancers	Primary T cells from cord blood	blood
23	chr16:79673600-79674600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr16:79673600-79674600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr16:79673600-79674600	Enhancers	Gastric	stomach
26	chr16:79673600-79674800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr16:79673600-79674800	Enhancers	Stomach Mucosa	stomach
28	chr16:79673600-79674800	Enhancers	A549	lung
29	chr16:79673600-79675000	Enhancers	HMEC	breast
30	chr16:79673600-79675200	Enhancers	Esophagus	oesophagus
31	chr16:79673600-79675200	Enhancers	Spleen	Spleen
32	chr16:79673600-79675400	Enhancers	Fetal Muscle Leg	muscle
33	chr16:79673600-79677200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
34	chr16:79673800-79674400	Weak transcription	NH-A	brain
35	chr16:79673800-79674600	Enhancers	Primary T helper naive cells from peripheral blood	blood
36	chr16:79673800-79674600	Enhancers	HSMMtube	muscle
37	chr16:79673800-79674800	Weak transcription	Duodenum Mucosa	Duodenum
38	chr16:79674000-79674400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
39	chr16:79674000-79674400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
40	chr16:79674000-79674400	Enhancers	NHEK	skin
41	chr16:79674000-79674800	Enhancers	Fetal Brain Male	brain
42	chr16:79674000-79674800	Enhancers	Fetal Muscle Trunk	muscle
43	chr16:79674000-79675600	Enhancers	Primary T helper naive cells fromperipheralblood	blood

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