Variant report

Variant	rs28383497
Chromosome Location	chr15:59398890-59398891
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: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	chr15:59378909..59380537-chr15:59398728..59400299,2	K562	blood:
2	chr15:59397489..59399180-chr15:59409328..59412119,2	K562	blood:
3	chr15:59278921..59283219-chr15:59397062..59399778,7	K562	blood:
4	chr15:59277958..59282108-chr15:59396207..59399778,7	K562	blood:
5	chr15:59223805..59226728-chr15:59396182..59398979,2	MCF-7	breast:
6	chr15:59223596..59226559-chr15:59396307..59399219,5	K562	blood:
7	chr15:59224236..59226559-chr15:59396307..59398942,5	K562	blood:
8	chr15:59061333..59064034-chr15:59397539..59399245,2	K562	blood:
9	chr15:59397711..59399298-chr15:59819776..59821486,2	K562	blood:
10	chr15:59331014..59335306-chr15:59398814..59401830,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000157450	Chromatin interaction
ENSG00000137776	Chromatin interaction
ENSG00000128923	Chromatin interaction
ENSG00000245975	Chromatin interaction

Extended variants
information (count: 82 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:79)

rs_ID	r²[population]
rs11071408	0.80[ASN][1000 genomes]
rs12438949	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12441365	0.83[ASN][1000 genomes]
rs12443442	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16941030	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16941040	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16941042	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16941046	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16941051	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16941055	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16941063	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16941069	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16953412	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17236439	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2044436	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2414620	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28365901	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28376133	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28383490	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28383491	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28383502	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28383504	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28383512	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28383513	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28383514	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28383519	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28383520	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28383523	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28383531	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28383536	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28383542	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28383545	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28383546	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28383549	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28383551	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28383552	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28383553	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28383561	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28399204	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28406885	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28491732	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28615244	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28739024	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2899643	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3751538	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3764193	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3764194	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3803449	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3809531	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4523870	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56187627	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56294483	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56891889	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57057009	0.83[EUR][1000 genomes]
rs57750394	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs57803886	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs58014933	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs58207484	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs58321899	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58827061	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59037515	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs59398329	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs59921711	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60533405	0.83[EUR][1000 genomes]
rs60628647	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60785075	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61369543	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61690344	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7165934	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs73418826	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73418888	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73418890	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73418896	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs74017339	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs74017345	0.83[EUR][1000 genomes]
rs74017356	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74017357	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8035850	1.00[ASN][1000 genomes]
rs8043536	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv527307	chr15:59103328-60018487	Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
2	esv1850946	chr15:59174539-59429160	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
3	nsv833025	chr15:59336148-59522176	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:59396600-59399400	Active TSS	NHDF-Ad	bronchial
2	chr15:59396800-59399000	Active TSS	HUES48 Cell Line	embryonic stem cell
3	chr15:59396800-59399000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr15:59396800-59399000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr15:59397000-59399000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr15:59397000-59399000	Active TSS	HUES64 Cell Line	embryonic stem cell
7	chr15:59397800-59415600	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr15:59397800-59450000	Weak transcription	Small Intestine	intestine
9	chr15:59398000-59399000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr15:59398000-59399200	Flanking Active TSS	HUVEC	blood vessel
11	chr15:59398000-59399600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr15:59398000-59407200	Weak transcription	Stomach Mucosa	stomach
13	chr15:59398000-59409600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr15:59398000-59412200	Weak transcription	Spleen	Spleen
15	chr15:59398000-59423200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr15:59398000-59423400	Weak transcription	Esophagus	oesophagus
17	chr15:59398000-59425600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr15:59398000-59426000	Weak transcription	Lung	lung
19	chr15:59398000-59426200	Weak transcription	HSMMtube	muscle
20	chr15:59398000-59426400	Weak transcription	Left Ventricle	heart
21	chr15:59398000-59427200	Weak transcription	Pancreas	Pancrea
22	chr15:59398000-59427400	Weak transcription	Rectal Smooth Muscle	rectum
23	chr15:59398000-59462000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr15:59398200-59399000	Flanking Active TSS	Dnd41	blood
25	chr15:59398200-59399000	Enhancers	Monocytes-CD14+_RO01746	blood
26	chr15:59398200-59399000	Flanking Active TSS	NHLF	lung
27	chr15:59398200-59399600	Weak transcription	Placenta	Placenta
28	chr15:59398200-59408600	Weak transcription	Brain Cingulate Gyrus	brain
29	chr15:59398200-59409400	Weak transcription	Primary B cells from cord blood	blood
30	chr15:59398200-59410400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr15:59398200-59415200	Weak transcription	Colonic Mucosa	Colon
32	chr15:59398200-59423800	Weak transcription	Fetal Brain Male	brain
33	chr15:59398400-59399200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
34	chr15:59398400-59399600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr15:59398400-59399600	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr15:59398400-59399600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr15:59398400-59399600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr15:59398400-59399800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr15:59398400-59399800	Weak transcription	Fetal Muscle Trunk	muscle
40	chr15:59398400-59400000	Weak transcription	Fetal Brain Female	brain
41	chr15:59398400-59400000	Weak transcription	Fetal Intestine Large	intestine
42	chr15:59398400-59400000	Weak transcription	Fetal Muscle Leg	muscle
43	chr15:59398400-59400000	Weak transcription	Fetal Stomach	stomach
44	chr15:59398400-59400200	Weak transcription	Fetal Lung	lung
45	chr15:59398400-59400400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr15:59398400-59402400	Weak transcription	Fetal Heart	heart
47	chr15:59398400-59402600	Weak transcription	Primary hematopoietic stem cells	blood
48	chr15:59398400-59402600	Weak transcription	Fetal Intestine Small	intestine
49	chr15:59398400-59402800	Weak transcription	Placenta Amnion	Placenta Amnion
50	chr15:59398400-59406600	Weak transcription	Fetal Kidney	kidney

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