Variant report

Variant	rs28445170
Chromosome Location	chr13:49323597-49323598
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:49323328..49325913-chr13:49330163..49332626,2	MCF-7	breast:
2	chr13:49323521..49324509-chr13:49342836..49343780,6	MCF-7	breast:
3	chr13:49306999..49309644-chr13:49322315..49324114,2	K562	blood:
4	chr13:49306107..49306797-chr13:49323533..49324530,2	MCF-7	breast:

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs12184704	0.92[EUR][1000 genomes]
rs12184705	0.92[EUR][1000 genomes]
rs12184837	0.82[ASN][1000 genomes]
rs17072179	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17072181	0.97[ASN][1000 genomes]
rs56686141	0.82[ASN][1000 genomes]
rs56828527	0.82[ASN][1000 genomes]
rs58150329	0.85[ASN][1000 genomes]
rs59643165	0.82[ASN][1000 genomes]
rs7319904	0.80[ASN][1000 genomes]
rs7327830	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73478310	0.92[EUR][1000 genomes]
rs73478325	0.85[ASN][1000 genomes]
rs73480212	0.80[ASN][1000 genomes]
rs73480214	0.80[ASN][1000 genomes]
rs73480251	0.82[ASN][1000 genomes]
rs73484311	0.82[ASN][1000 genomes]
rs73484314	0.82[ASN][1000 genomes]
rs895967	0.80[ASN][1000 genomes]
rs895968	0.82[ASN][1000 genomes]
rs9591205	0.91[ASN][1000 genomes]
rs9591206	1.00[EUR][1000 genomes]
rs9591207	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9591208	0.97[ASN][1000 genomes]
rs9591209	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9591210	0.80[ASN][1000 genomes]
rs9591211	0.80[ASN][1000 genomes]
rs9595975	0.85[ASN][1000 genomes]
rs9595985	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9595986	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9595987	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9595989	0.97[ASN][1000 genomes]
rs9595990	0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9595991	0.94[ASN][1000 genomes]
rs9595993	0.97[ASN][1000 genomes]
rs9595994	0.80[ASN][1000 genomes]
rs9595996	0.80[ASN][1000 genomes]
rs9596009	0.80[ASN][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	nsv1049117	chr13:49089476-49928945	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv832605	chr13:49171305-49344970	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
3	esv2758327	chr13:49283983-49472517	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	esv2759936	chr13:49283983-49472517	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1036621	chr13:49310529-49346405	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv1049066	chr13:49316146-49346405	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:49322200-49324800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr13:49322200-49325200	Enhancers	HMEC	breast
3	chr13:49322400-49323600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr13:49322400-49325000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr13:49322400-49325400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr13:49322400-49325400	Enhancers	Adipose Nuclei	Adipose
7	chr13:49322400-49325800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr13:49322600-49323600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr13:49322600-49324200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr13:49322600-49324200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr13:49322600-49324200	Enhancers	Hela-S3	cervix
12	chr13:49322600-49324200	Enhancers	NH-A	brain
13	chr13:49322600-49324600	Enhancers	NHEK	skin
14	chr13:49322600-49324800	Enhancers	Placenta Amnion	Placenta Amnion
15	chr13:49322600-49325000	Enhancers	HSMM	muscle
16	chr13:49322600-49325400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr13:49322600-49325400	Enhancers	NHDF-Ad	bronchial
18	chr13:49322800-49323600	Enhancers	Lung	lung
19	chr13:49322800-49323800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr13:49322800-49324200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr13:49322800-49325000	Enhancers	Osteobl	bone
22	chr13:49323000-49323600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr13:49323000-49323600	Enhancers	Right Atrium	heart
24	chr13:49323000-49324800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr13:49323000-49325200	Enhancers	NHLF	lung
26	chr13:49323000-49325400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr13:49323200-49323600	Enhancers	Esophagus	oesophagus
28	chr13:49323200-49324200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr13:49323200-49324200	Enhancers	Duodenum Smooth Muscle	Duodenum
30	chr13:49323200-49324600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr13:49323200-49324600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
32	chr13:49323200-49324600	Enhancers	GM12878-XiMat	blood
33	chr13:49323200-49325000	Weak transcription	Ovary	ovary
34	chr13:49323200-49325200	Enhancers	Brain Hippocampus Middle	brain
35	chr13:49323200-49325400	Enhancers	Skeletal Muscle Female	skeletal muscle
36	chr13:49323400-49323600	Enhancers	Muscle Satellite Cultured Cells	--
37	chr13:49323400-49323600	Flanking Active TSS	A549	lung
38	chr13:49323400-49323800	Enhancers	Brain Cingulate Gyrus	brain
39	chr13:49323400-49323800	Flanking Active TSS	HSMMtube	muscle
40	chr13:49323400-49324400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
41	chr13:49323400-49324400	Weak transcription	Pancreatic Islets	Pancreatic Islet
42	chr13:49323400-49324400	Enhancers	Stomach Smooth Muscle	stomach
43	chr13:49323400-49324600	Enhancers	Primary T cells fromperipheralblood	blood
44	chr13:49323400-49324800	Enhancers	Brain Anterior Caudate	brain
45	chr13:49323400-49324800	Weak transcription	Left Ventricle	heart
46	chr13:49323400-49325400	Enhancers	Brain Substantia Nigra	brain
47	chr13:49323400-49325400	Enhancers	Duodenum Mucosa	Duodenum
48	chr13:49323400-49325600	Enhancers	Placenta	Placenta
49	chr13:49323400-49325600	Enhancers	Fetal Stomach	stomach
50	chr13:49323400-49325600	Enhancers	Rectal Smooth Muscle	rectum

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