Variant report

Variant	rs72742383
Chromosome Location	chr15:51201281-51201282
allele	A/G
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:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:51056442..51059084-chr15:51199726..51202707,2	MCF-7	breast:
2	chr15:50977442..50979922-chr15:51198976..51201748,2	MCF-7	breast:
3	chr15:50977828..50980537-chr15:51197788..51202411,5	MCF-7	breast:
4	chr15:50645261..50648746-chr15:51197475..51202828,11	MCF-7	breast:
5	chr15:51200426..51201356-chr16:89988887..89989457,2	Hela-S3	cervix:
6	chr15:50645568..50648513-chr15:51198882..51201905,4	K562	blood:
7	chr15:50647013..50649194-chr15:51198882..51202798,3	K562	blood:
8	chr15:51201141..51202699-chr15:51202955..51205782,2	K562	blood:
9	chr15:50925249..50927102-chr15:51201168..51202804,2	MCF-7	breast:
10	chr15:51199980..51202368-chr15:51206159..51208700,2	MCF-7	breast:
11	chr15:50715051..50716792-chr15:51200047..51202504,2	MCF-7	breast:
12	chr15:50977199..50981459-chr15:51198510..51202863,6	K562	blood:
13	chr1:180123605..180124282-chr15:51200703..51201684,2	MCF-7	breast:
14	chr15:50715057..50718112-chr15:51199966..51202837,4	MCF-7	breast:
15	chr15:50977199..50979864-chr15:51198670..51201821,3	K562	blood:
16	chr15:51201141..51203041-chr15:51203150..51205782,2	K562	blood:
17	chr15:50645553..50650972-chr15:51199033..51203961,11	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000138600	Chromatin interaction
ENSG00000116260	Chromatin interaction
ENSG00000138592	Chromatin interaction
ENSG00000104064	Chromatin interaction
ENSG00000243027	Chromatin interaction
ENSG00000092439	Chromatin interaction
ENSG00000244879	Chromatin interaction
ENSG00000259006	Chromatin interaction
ENSG00000081014	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11070815	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11631037	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11633226	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11635054	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12439323	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12441319	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16963977	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2619684	0.92[EUR][1000 genomes]
rs2619685	0.92[EUR][1000 genomes]
rs3759808	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3803369	0.88[EUR][1000 genomes]
rs3886394	0.83[EUR][1000 genomes]
rs4775912	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4775914	0.89[EUR][1000 genomes]
rs56289295	0.82[EUR][1000 genomes]
rs7170736	0.81[EUR][1000 genomes]
rs72742336	0.82[EUR][1000 genomes]
rs72742362	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72744339	0.92[EUR][1000 genomes]
rs9806270	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043805	chr15:50715572-51208891	Genic enhancers Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
2	nsv542384	chr15:50715572-51208891	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
3	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
4	nsv457136	chr15:50789125-51294995	Strong transcription ZNF genes & repeats Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS 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 target site	66 gene(s)	inside rSNPs	diseases
5	nsv569398	chr15:50789125-51294995	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic 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 target site	66 gene(s)	inside rSNPs	diseases
6	nsv1042372	chr15:50846461-51208891	Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
7	nsv542386	chr15:50846461-51208891	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
8	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
9	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
10	nsv529339	chr15:51048579-51270372	Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
11	nsv516168	chr15:51114437-51217361	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
12	nsv428636	chr15:51154834-51298044	Active TSS Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
13	nsv569403	chr15:51191421-51304373	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
14	nsv1038778	chr15:51196641-51356728	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:51199000-51201400	Active TSS	Primary T killer memory cells from peripheral blood	blood
2	chr15:51199000-51202000	Active TSS	Breast Myoepithelial Primary Cells	Breast
3	chr15:51199000-51202400	Active TSS	GM12878-XiMat	blood
4	chr15:51199200-51201400	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
5	chr15:51199200-51201400	Active TSS	Stomach Smooth Muscle	stomach
6	chr15:51199200-51201600	Active TSS	Primary T helper cells PMA-I stimulated	--
7	chr15:51199200-51201600	Active TSS	Duodenum Smooth Muscle	Duodenum
8	chr15:51199200-51201800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr15:51199200-51201800	Active TSS	Primary T killer naive cells fromperipheralblood	blood
10	chr15:51199200-51201800	Active TSS	Colonic Mucosa	Colon
11	chr15:51199200-51202000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr15:51199200-51202000	Active TSS	Pancreatic Islets	Pancreatic Islet
13	chr15:51199200-51202200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr15:51199200-51202600	Active TSS	Esophagus	oesophagus
15	chr15:51199400-51201400	Active TSS	Primary T helper naive cells from peripheral blood	blood
16	chr15:51199400-51201400	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
17	chr15:51199400-51201800	Active TSS	NHDF-Ad	bronchial
18	chr15:51199600-51201400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr15:51199600-51201600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
20	chr15:51199600-51201600	Active TSS	Lung	lung
21	chr15:51199600-51201800	Active TSS	H1 Cell Line	embryonic stem cell
22	chr15:51199600-51201800	Active TSS	H9 Cell Line	embryonic stem cell
23	chr15:51199600-51201800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr15:51199600-51201800	Active TSS	Fetal Muscle Trunk	muscle
25	chr15:51199600-51201800	Active TSS	Ovary	ovary
26	chr15:51199600-51202000	Active TSS	Psoas Muscle	Psoas
27	chr15:51199600-51202200	Active TSS	Fetal Intestine Small	intestine
28	chr15:51199600-51202600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr15:51199600-51202600	Active TSS	HSMMtube	muscle
30	chr15:51199600-51202800	Active TSS	ES-I3 Cell Line	embryonic stem cell
31	chr15:51199600-51202800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr15:51199800-51201400	Active TSS	Brain Cingulate Gyrus	brain
33	chr15:51199800-51201400	Active TSS	Hela-S3	cervix
34	chr15:51199800-51201600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr15:51199800-51201600	Active TSS	Brain Angular Gyrus	brain
36	chr15:51199800-51201600	Active TSS	Brain Anterior Caudate	brain
37	chr15:51199800-51201600	Active TSS	Fetal Muscle Leg	muscle
38	chr15:51199800-51201600	Active TSS	Placenta	Placenta
39	chr15:51199800-51201600	Active TSS	Fetal Stomach	stomach
40	chr15:51199800-51201600	Active TSS	Small Intestine	intestine
41	chr15:51199800-51201600	Bivalent/Poised TSS	HepG2	liver
42	chr15:51199800-51201800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
43	chr15:51199800-51201800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr15:51199800-51201800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr15:51199800-51201800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
46	chr15:51199800-51201800	Active TSS	Aorta	Aorta
47	chr15:51199800-51201800	Active TSS	Left Ventricle	heart
48	chr15:51199800-51201800	Active TSS	Placenta Amnion	Placenta Amnion
49	chr15:51199800-51201800	Active TSS	Sigmoid Colon	Sigmoid Colon
50	chr15:51199800-51201800	Active TSS	Skeletal Muscle Male	skeletal muscle

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