Variant report

Variant	rs72740482
Chromosome Location	chr15:50976518-50976519
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:50965673..50968390-chr15:50973534..50976519,4	MCF-7	breast:
2	chr15:50976192..50979125-chr15:51038150..51041035,2	K562	blood:
3	chr15:50973045..50977004-chr15:50977096..50981509,8	MCF-7	breast:
4	chr15:50976295..50981465-chr15:51052766..51059546,15	MCF-7	breast:

Variant related genes	Relation type
ENSG00000243027	Chromatin interaction
ENSG00000259773	Chromatin interaction
ENSG00000138600	Chromatin interaction
ENSG00000092439	Chromatin interaction

Extended variants
information (count: 78 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10519282	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11070790	1.00[ASN][1000 genomes]
rs11632447	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11634859	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11635052	0.85[AFR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11635167	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12101377	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12101614	1.00[ASN][1000 genomes]
rs12102069	1.00[ASN][1000 genomes]
rs12440585	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16953031	1.00[ASN][1000 genomes]
rs16963774	1.00[ASN][1000 genomes]
rs16963775	1.00[ASN][1000 genomes]
rs16963776	1.00[ASN][1000 genomes]
rs16963790	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16963844	0.88[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs17520308	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2135451	1.00[ASN][1000 genomes]
rs2163098	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2414070	1.00[ASN][1000 genomes]
rs2414071	1.00[ASN][1000 genomes]
rs28369117	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28405754	1.00[ASN][1000 genomes]
rs28440118	1.00[ASN][1000 genomes]
rs28568888	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28608916	1.00[ASN][1000 genomes]
rs28657876	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28696723	1.00[ASN][1000 genomes]
rs28699274	1.00[ASN][1000 genomes]
rs28712268	0.81[AFR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28723479	1.00[ASN][1000 genomes]
rs28749239	1.00[ASN][1000 genomes]
rs3858903	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7163741	1.00[ASN][1000 genomes]
rs7164736	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7174266	1.00[ASN][1000 genomes]
rs72739001	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72740403	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72740405	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72740406	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72740407	1.00[ASN][1000 genomes]
rs72740412	1.00[ASN][1000 genomes]
rs72740423	1.00[ASN][1000 genomes]
rs72740428	1.00[ASN][1000 genomes]
rs72740469	0.88[AFR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72740470	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8023464	1.00[ASN][1000 genomes]
rs8031444	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8043156	1.00[ASN][1000 genomes]
rs9806676	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9920545	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:27 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045456	chr15:50592472-51019873	Strong transcription Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	121 gene(s)	inside rSNPs	diseases
2	nsv948579	chr15:50645530-51045564	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
3	nsv1053966	chr15:50715572-51133186	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats 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	65 gene(s)	inside rSNPs	diseases
4	nsv542383	chr15:50715572-51133186	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
5	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
6	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
7	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
8	nsv1051990	chr15:50745814-51133186	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
9	nsv1054970	chr15:50761410-51036625	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers 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	32 gene(s)	inside rSNPs	diseases
10	nsv457134	chr15:50770868-51184583	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
11	nsv471242	chr15:50770868-51184583	Genic enhancers ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS 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	54 gene(s)	inside rSNPs	diseases
12	nsv569396	chr15:50770868-51184583	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
13	nsv457135	chr15:50770868-51189707	ZNF genes & repeats Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
14	nsv569397	chr15:50770868-51189707	Strong transcription Active TSS Weak transcription Enhancers Genic enhancers Flanking 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	54 gene(s)	inside rSNPs	diseases
15	nsv1048621	chr15:50775451-51115535	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats 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	47 gene(s)	inside rSNPs	diseases
16	nsv1047039	chr15:50782070-51187804	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
17	nsv542385	chr15:50782070-51187804	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
18	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
19	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
20	nsv431389	chr15:50795835-50979738	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
21	nsv1036081	chr15:50818569-51097229	Strong transcription Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
22	nsv1055112	chr15:50822035-51133186	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats 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	46 gene(s)	inside rSNPs	diseases
23	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
24	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
25	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
26	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
27	nsv1051400	chr15:50890333-51046283	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:50906400-50977400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr15:50923400-50977600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr15:50923600-50977600	Weak transcription	Brain Substantia Nigra	brain
4	chr15:50946200-50977200	Weak transcription	Rectal Smooth Muscle	rectum
5	chr15:50946800-50977600	Weak transcription	Brain Cingulate Gyrus	brain
6	chr15:50948800-50977200	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr15:50949000-50977800	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr15:50949200-50977000	Weak transcription	Brain Anterior Caudate	brain
9	chr15:50949200-50977200	Weak transcription	Primary neutrophils fromperipheralblood	blood
10	chr15:50950000-50976800	Weak transcription	Brain Hippocampus Middle	brain
11	chr15:50950000-50976800	Weak transcription	Stomach Smooth Muscle	stomach
12	chr15:50950000-50977000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr15:50950000-50977000	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr15:50950200-50977400	Weak transcription	Fetal Lung	lung
15	chr15:50950800-50977400	Weak transcription	Ovary	ovary
16	chr15:50951000-50976800	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr15:50954400-50977200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr15:50955600-50976600	Weak transcription	HUVEC	blood vessel
19	chr15:50956200-50976800	Weak transcription	Primary hematopoietic stem cells	blood
20	chr15:50956200-50977000	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr15:50956200-50977400	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr15:50957400-50977600	Weak transcription	Fetal Intestine Large	intestine
23	chr15:50959200-50976800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr15:50959800-50978000	Weak transcription	Esophagus	oesophagus
25	chr15:50961200-50977000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr15:50966200-50976800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr15:50966400-50976600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr15:50967200-50976600	Enhancers	Liver	Liver
29	chr15:50967200-50977200	Weak transcription	Primary B cells from cord blood	blood
30	chr15:50967200-50977200	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr15:50968200-50977000	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr15:50968200-50977600	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr15:50968400-50976600	Weak transcription	Primary B cells from peripheral blood	blood
34	chr15:50968400-50976600	Weak transcription	Colonic Mucosa	Colon
35	chr15:50969400-50976800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr15:50969400-50977600	Weak transcription	Fetal Kidney	kidney
37	chr15:50969600-50976800	Weak transcription	HMEC	breast
38	chr15:50969600-50976800	Weak transcription	NHLF	lung
39	chr15:50969600-50977000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr15:50969600-50977000	Weak transcription	NH-A	brain
41	chr15:50969800-50976600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr15:50969800-50976800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr15:50969800-50976800	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr15:50969800-50976800	Weak transcription	Right Ventricle	heart
45	chr15:50969800-50976800	Weak transcription	Osteobl	bone
46	chr15:50970600-50977800	Weak transcription	Psoas Muscle	Psoas
47	chr15:50972000-50977000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr15:50973000-50977800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
49	chr15:50973200-50977600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
50	chr15:50973400-50977200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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