Variant report

Variant	rs57288992
Chromosome Location	chr15:41151476-41151477
allele	G/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:22)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:22 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:41150041..41152139-chr15:41152900..41156104,3	K562	blood:
2	chr15:41148610..41153040-chr15:41153153..41159814,9	MCF-7	breast:
3	chr15:41030818..41032817-chr15:41149511..41151476,2	K562	blood:
4	chr15:41148671..41154287-chr15:41183537..41188403,13	MCF-7	breast:
5	chr15:41140669..41146997-chr15:41148125..41153622,6	K562	blood:
6	chr15:41151059..41151968-chr15:41184909..41185645,2	MCF-7	breast:
7	chr15:41150583..41152026-chr15:41183523..41185167,5	K562	blood:
8	chr15:41149992..41152598-chr15:41170919..41172722,2	K562	blood:
9	chr15:41148526..41152420-chr15:41165640..41167925,3	K562	blood:
10	chr15:41149915..41158340-chr15:41160487..41168241,17	MCF-7	breast:
11	chr15:41151351..41151925-chr15:41185686..41186256,2	MCF-7	breast:
12	chr15:41137274..41141358-chr15:41148658..41151865,7	MCF-7	breast:
13	chr15:41055356..41057797-chr15:41150311..41151854,2	K562	blood:
14	chr15:41149030..41159900-chr15:41180834..41187281,18	MCF-7	breast:
15	chr15:41147027..41152625-chr15:41184304..41188925,8	K562	blood:
16	chr15:41150105..41152122-chr15:41152976..41154700,3	MCF-7	breast:
17	chr15:41150922..41152005-chr15:41185954..41186723,4	K562	blood:
18	chr15:41150722..41152078-chr15:41185908..41187003,9	MCF-7	breast:
19	chr15:41151290..41151919-chr15:41182973..41183489,2	MCF-7	breast:
20	chr15:41148133..41159834-chr15:41169228..41175193,12	MCF-7	breast:
21	chr15:41150681..41151918-chr15:41165518..41166393,6	MCF-7	breast:
22	chr15:41150944..41152426-chr15:41183613..41184775,10	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000104140	Chromatin interaction
ENSG00000166145	Chromatin interaction
ENSG00000137824	Chromatin interaction
ENSG00000104142	Chromatin interaction
ENSG00000137880	Chromatin interaction
ENSG00000264256	Chromatin interaction

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10220885	1.00[EUR][1000 genomes]
rs12323939	1.00[EUR][1000 genomes]
rs16971119	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs45501094	1.00[EUR][1000 genomes]
rs45571032	1.00[EUR][1000 genomes]
rs45604436	1.00[EUR][1000 genomes]
rs55896567	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55906732	1.00[EUR][1000 genomes]
rs56229816	1.00[EUR][1000 genomes]
rs57242620	1.00[EUR][1000 genomes]
rs58097169	1.00[EUR][1000 genomes]
rs58375351	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs58681580	1.00[EUR][1000 genomes]
rs58738238	1.00[EUR][1000 genomes]
rs59508492	1.00[EUR][1000 genomes]
rs59528823	1.00[EUR][1000 genomes]
rs59558714	1.00[EUR][1000 genomes]
rs60109064	1.00[EUR][1000 genomes]
rs60111609	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60125661	0.88[ASN][1000 genomes]
rs60163307	1.00[EUR][1000 genomes]
rs60578270	1.00[EUR][1000 genomes]
rs60619762	0.88[ASN][1000 genomes]
rs60822673	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6492962	1.00[EUR][1000 genomes]
rs6492963	1.00[EUR][1000 genomes]
rs7161941	1.00[EUR][1000 genomes]
rs7164574	1.00[EUR][1000 genomes]
rs7166733	1.00[EUR][1000 genomes]
rs7167831	1.00[EUR][1000 genomes]
rs7168217	1.00[EUR][1000 genomes]
rs7169273	1.00[EUR][1000 genomes]
rs7171451	1.00[EUR][1000 genomes]
rs7171898	1.00[EUR][1000 genomes]
rs7172356	1.00[EUR][1000 genomes]
rs7176001	0.86[AFR][1000 genomes]
rs7178244	1.00[EUR][1000 genomes]
rs7182066	1.00[EUR][1000 genomes]
rs7182516	1.00[EUR][1000 genomes]
rs73400524	0.88[ASN][1000 genomes]
rs73400528	0.99[ASN][1000 genomes]
rs73400552	0.87[AFR][1000 genomes]
rs74011880	1.00[EUR][1000 genomes]
rs74011881	1.00[EUR][1000 genomes]
rs74011884	1.00[EUR][1000 genomes]
rs74011886	1.00[EUR][1000 genomes]
rs74011887	1.00[EUR][1000 genomes]
rs74011888	1.00[EUR][1000 genomes]
rs8028552	0.83[ASN][1000 genomes]
rs8035580	1.00[EUR][1000 genomes]
rs8038751	1.00[EUR][1000 genomes]
rs8039169	1.00[EUR][1000 genomes]
rs8039942	1.00[EUR][1000 genomes]
rs8040579	1.00[EUR][1000 genomes]
rs8040925	1.00[EUR][1000 genomes]
rs9672224	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv904101	chr15:40979651-41275014	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
2	esv1819092	chr15:41017682-41255750	Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
3	nsv904102	chr15:41046883-41201699	Strong transcription Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	nsv1054764	chr15:41068625-41196410	Active TSS Strong transcription Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	nsv569228	chr15:41106485-41194151	Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
6	nsv904103	chr15:41123172-41275014	Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
7	nsv904104	chr15:41149824-41234932	Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
8	nsv904105	chr15:41149824-41275014	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:41137400-41152200	Weak transcription	Small Intestine	intestine
2	chr15:41137400-41165800	Weak transcription	Right Atrium	heart
3	chr15:41140600-41151600	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr15:41141200-41152600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr15:41146600-41154200	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr15:41147800-41151600	Genic enhancers	Rectal Mucosa Donor 31	rectum
7	chr15:41148200-41151600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr15:41148400-41151800	Genic enhancers	Fetal Intestine Small	intestine
9	chr15:41148600-41151600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr15:41149000-41154400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr15:41149200-41151600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr15:41149200-41151600	Enhancers	Fetal Thymus	thymus
13	chr15:41149400-41151600	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr15:41149400-41151600	Weak transcription	Primary hematopoietic stem cells	blood
15	chr15:41149400-41151800	Enhancers	A549	lung
16	chr15:41149400-41154400	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr15:41149400-41154600	Enhancers	Primary neutrophils fromperipheralblood	blood
18	chr15:41149600-41151600	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr15:41149600-41152000	Enhancers	K562	blood
20	chr15:41149600-41152600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr15:41149600-41158000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr15:41149800-41151600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr15:41149800-41151600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr15:41149800-41152200	Enhancers	Pancreas	Pancrea
25	chr15:41149800-41152200	Enhancers	Stomach Mucosa	stomach
26	chr15:41149800-41158200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr15:41150000-41154400	Enhancers	Monocytes-CD14+_RO01746	blood
28	chr15:41150000-41158200	Weak transcription	HMEC	breast
29	chr15:41150000-41165600	Weak transcription	Spleen	Spleen
30	chr15:41150200-41151600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr15:41150200-41151600	Weak transcription	Brain Anterior Caudate	brain
32	chr15:41150400-41151600	Weak transcription	Fetal Intestine Large	intestine
33	chr15:41150600-41158200	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr15:41150800-41151600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr15:41150800-41151800	Enhancers	GM12878-XiMat	blood
36	chr15:41150800-41151800	Flanking Active TSS	Hela-S3	cervix
37	chr15:41150800-41152000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr15:41150800-41152000	Genic enhancers	Esophagus	oesophagus
39	chr15:41150800-41152200	Flanking Active TSS	HepG2	liver
40	chr15:41151000-41151600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr15:41151000-41151600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
42	chr15:41151000-41151800	Enhancers	iPS-20b Cell Line	embryonic stem cell
43	chr15:41151000-41151800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
44	chr15:41151000-41151800	Enhancers	Brain Hippocampus Middle	brain
45	chr15:41151000-41151800	Enhancers	Sigmoid Colon	Sigmoid Colon
46	chr15:41151200-41151600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr15:41151200-41151600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr15:41151200-41151600	Weak transcription	Gastric	stomach
49	chr15:41151200-41151800	Enhancers	HUES64 Cell Line	embryonic stem cell
50	chr15:41151200-41151800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood

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