Variant report

Variant	rs58949721
Chromosome Location	chr16:80650712-80650713
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:80647872..80651396-chr16:80835891..80840047,9	MCF-7	breast:
2	chr16:80646269..80652349-chr16:80833656..80841772,15	MCF-7	breast:
3	chr16:80649156..80651296-chr16:80686426..80687984,2	MCF-7	breast:
4	chr16:80648695..80650960-chr16:80752549..80754538,2	MCF-7	breast:
5	chr16:80649872..80653647-chr16:80673077..80676243,4	MCF-7	breast:
6	chr16:80650294..80652166-chr16:80871935..80873691,2	MCF-7	breast:
7	chr16:80650331..80653317-chr16:80787913..80789751,2	MCF-7	breast:
8	chr16:80560152..80563115-chr16:80649804..80651965,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000166446	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs16953658	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2123282	1.00[ASN][1000 genomes]
rs2167672	1.00[ASN][1000 genomes]
rs58145741	1.00[ASN][1000 genomes]
rs7201422	1.00[ASN][1000 genomes]
rs72487971	1.00[ASN][1000 genomes]
rs74028333	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs896624	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1060621	chr16:80532848-80980616	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	nsv542989	chr16:80532848-80980616	Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
3	nsv1056083	chr16:80636184-80666779	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv1063971	chr16:80640278-80663092	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv1063761	chr16:80640278-80663665	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv1055196	chr16:80647550-80672417	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:80630600-80668000	Weak transcription	Fetal Kidney	kidney
2	chr16:80634200-80663600	Weak transcription	Brain Anterior Caudate	brain
3	chr16:80635000-80651200	Weak transcription	Brain Hippocampus Middle	brain
4	chr16:80635400-80655600	Weak transcription	Brain Angular Gyrus	brain
5	chr16:80636800-80653600	Weak transcription	HSMMtube	muscle
6	chr16:80637000-80653400	Weak transcription	HSMM	muscle
7	chr16:80639800-80657400	Weak transcription	Stomach Smooth Muscle	stomach
8	chr16:80640600-80652600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr16:80640600-80662200	Weak transcription	Primary T cells from cord blood	blood
10	chr16:80640600-80662600	Weak transcription	Primary T helper cells fromperipheralblood	blood
11	chr16:80640800-80663800	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr16:80640800-80669200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr16:80641800-80652200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr16:80642200-80652200	Weak transcription	Primary T cells fromperipheralblood	blood
15	chr16:80642200-80668200	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr16:80642800-80663800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr16:80643000-80654600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr16:80644200-80666200	Weak transcription	Brain Substantia Nigra	brain
19	chr16:80645200-80652800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr16:80645400-80657600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr16:80645600-80652800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr16:80646000-80653600	Weak transcription	Fetal Intestine Large	intestine
23	chr16:80646000-80656000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr16:80646200-80651000	Enhancers	Placenta	Placenta
25	chr16:80646400-80657800	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr16:80646400-80662200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr16:80646400-80662200	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr16:80646600-80650800	Weak transcription	Liver	Liver
29	chr16:80646600-80651400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr16:80646600-80652000	Weak transcription	Monocytes-CD14+_RO01746	blood
31	chr16:80646600-80652600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr16:80646600-80653200	Weak transcription	Lung	lung
33	chr16:80646600-80654800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr16:80646600-80657800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr16:80646600-80687800	Weak transcription	Pancreas	Pancrea
36	chr16:80646800-80653000	Weak transcription	Adipose Nuclei	Adipose
37	chr16:80647000-80652400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr16:80647000-80653000	Weak transcription	Duodenum Mucosa	Duodenum
39	chr16:80647000-80665000	Weak transcription	Gastric	stomach
40	chr16:80648400-80653200	Weak transcription	Esophagus	oesophagus
41	chr16:80649000-80650800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr16:80649000-80651200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr16:80649200-80653400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr16:80649400-80652600	Weak transcription	Primary neutrophils fromperipheralblood	blood
45	chr16:80649400-80653400	Weak transcription	NHEK	skin
46	chr16:80649400-80654400	Strong transcription	Spleen	Spleen
47	chr16:80649600-80657800	Weak transcription	Primary hematopoietic stem cells	blood
48	chr16:80649600-80658000	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr16:80650000-80651200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr16:80650000-80652600	Weak transcription	Fetal Stomach	stomach

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