Variant report

Variant	rs720316
Chromosome Location	chr15:51455815-51455816
allele	A/C
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:51450194..51453157-chr15:51454240..51457739,4	MCF-7	breast:
2	chr15:51454781..51456161-chr15:51672829..51674093,16	MCF-7	breast:
3	chr15:51453050..51456632-chr15:51484073..51486143,44	MCF-7	breast:
4	chr15:51451516..51454469-chr15:51455388..51457831,2	MCF-7	breast:
5	chr15:51453147..51456001-chr15:51473724..51475923,2	MCF-7	breast:
6	chr15:51453641..51456557-chr15:51478131..51480055,2	MCF-7	breast:
7	chr15:51424835..51425877-chr15:51454808..51456221,4	MCF-7	breast:
8	chr15:51455012..51455878-chr15:51673133..51674169,7	K562	blood:
9	chr15:51455156..51457220-chr15:51483555..51485672,2	MCF-7	breast:
10	chr15:51453550..51456646-chr15:51483594..51486501,4	MCF-7	breast:

No data

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10152435	0.85[ASN][1000 genomes]
rs10468000	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10468001	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10519293	0.81[AFR][1000 genomes]
rs11632323	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12591759	0.85[ASN][1000 genomes]
rs12591785	0.85[ASN][1000 genomes]
rs12592286	0.85[ASN][1000 genomes]
rs12594156	0.85[ASN][1000 genomes]
rs12901289	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12901781	0.85[ASN][1000 genomes]
rs12902020	0.85[ASN][1000 genomes]
rs12902455	0.85[ASN][1000 genomes]
rs12911314	0.85[ASN][1000 genomes]
rs1438920	0.85[ASN][1000 genomes]
rs1438922	0.85[ASN][1000 genomes]
rs1438923	0.85[ASN][1000 genomes]
rs1438924	0.85[ASN][1000 genomes]
rs1550334	1.00[ASN][1000 genomes]
rs1550339	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1595584	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1866417	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1898738	0.85[ASN][1000 genomes]
rs2414092	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2414093	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3803369	0.92[ASN][1000 genomes]
rs4774582	0.85[ASN][1000 genomes]
rs4775917	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4775918	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4775919	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4775923	0.85[ASN][1000 genomes]
rs4775926	0.85[ASN][1000 genomes]
rs4775928	0.85[ASN][1000 genomes]
rs6493483	0.85[ASN][1000 genomes]
rs6493484	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7170736	1.00[ASN][1000 genomes]
rs7181680	0.85[ASN][1000 genomes]
rs72727146	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs732761	0.85[ASN][1000 genomes]
rs732762	0.85[ASN][1000 genomes]
rs7498099	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8027797	0.85[ASN][1000 genomes]
rs8035909	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs893576	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs934635	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1047443	chr15:50744781-51647023	Strong transcription Active TSS Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
2	nsv569399	chr15:50874964-51562198	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
3	nsv569400	chr15:50874964-51767265	ZNF genes & repeats Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
4	nsv904214	chr15:51204364-51535192	Strong transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
5	nsv1049644	chr15:51265447-51560445	Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
6	esv34532	chr15:51276128-51752856	Flanking Active TSS Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
7	esv2758382	chr15:51282257-51830339	Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
8	esv2760031	chr15:51282257-51830339	Weak transcription Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
9	nsv471243	chr15:51345485-52018096	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
10	esv2757600	chr15:51352249-51783981	Weak transcription Bivalent Enhancer Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:51443200-51456200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr15:51452200-51456200	Enhancers	Brain Angular Gyrus	brain
3	chr15:51452400-51456000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr15:51452600-51456200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr15:51453800-51462000	Weak transcription	Aorta	Aorta
6	chr15:51454800-51456200	Enhancers	Fetal Heart	heart
7	chr15:51455000-51456000	Enhancers	Stomach Mucosa	stomach
8	chr15:51455000-51456200	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr15:51455000-51456400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr15:51455000-51456800	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr15:51455000-51456800	Enhancers	Primary neutrophils fromperipheralblood	blood
12	chr15:51455200-51456000	Enhancers	Brain Substantia Nigra	brain
13	chr15:51455200-51456600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
14	chr15:51455400-51456000	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr15:51455400-51456000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr15:51455400-51456000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr15:51455400-51456000	Flanking Active TSS	Brain Anterior Caudate	brain
18	chr15:51455400-51456000	Flanking Active TSS	Brain Hippocampus Middle	brain
19	chr15:51455400-51456000	Enhancers	Colon Smooth Muscle	Colon
20	chr15:51455400-51456000	Enhancers	Placenta Amnion	Placenta Amnion
21	chr15:51455400-51456000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
22	chr15:51455400-51456000	Flanking Active TSS	Hela-S3	cervix
23	chr15:51455400-51456200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
24	chr15:51455400-51456400	Enhancers	Primary hematopoietic stem cells	blood
25	chr15:51455400-51456600	Enhancers	Primary B cells from cord blood	blood
26	chr15:51455600-51456000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
27	chr15:51455600-51456000	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr15:51455600-51456000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr15:51455600-51456000	Enhancers	Brain Germinal Matrix	brain
30	chr15:51455600-51456000	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
31	chr15:51455600-51456000	Flanking Active TSS	HSMM	muscle
32	chr15:51455600-51456200	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr15:51455600-51456200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr15:51455600-51456200	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr15:51455600-51456200	Enhancers	Fetal Muscle Leg	muscle
36	chr15:51455600-51456400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr15:51455600-51456400	Enhancers	iPS-18 Cell Line	embryonic stem cell
38	chr15:51455600-51456400	Enhancers	Right Ventricle	heart
39	chr15:51455600-51456600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr15:51455600-51456600	Enhancers	Placenta	Placenta
41	chr15:51455800-51456000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr15:51455800-51456000	Enhancers	Cortex derived primary cultured neurospheres	brain
43	chr15:51455800-51456000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr15:51455800-51456000	Enhancers	Brain Cingulate Gyrus	brain
45	chr15:51455800-51456000	Enhancers	Brain Inferior Temporal Lobe	brain
46	chr15:51455800-51456000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
47	chr15:51455800-51456000	Enhancers	Stomach Smooth Muscle	stomach
48	chr15:51455800-51456000	Bivalent Enhancer	A549	lung
49	chr15:51455800-51456000	Flanking Active TSS	HSMMtube	muscle
50	chr15:51455800-51456000	Enhancers	NH-A	brain

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