Variant report

Variant	rs72738983
Chromosome Location	chr15:50798349-50798350
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:50646420..50649209-chr15:50796093..50799049,3	MCF-7	breast:
2	chr15:50649293..50650992-chr15:50796880..50798462,2	K562	blood:

Variant related genes	Relation type
ENSG00000104064	Chromatin interaction
ENSG00000244879	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10220843	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11632717	1.00[ASN][1000 genomes]
rs16963735	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16963739	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16963744	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17598020	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2063011	0.84[ASN][1000 genomes]
rs3109896	0.92[ASN][1000 genomes]
rs41444349	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4775898	0.84[ASN][1000 genomes]
rs511736	0.84[ASN][1000 genomes]
rs59818085	0.83[EUR][1000 genomes]
rs7173217	1.00[ASN][1000 genomes]
rs72738959	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72738960	0.86[EUR][1000 genomes]
rs72738968	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72738970	1.00[EUR][1000 genomes]
rs72738977	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72738980	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8027632	1.00[ASN][1000 genomes]
rs8032743	0.86[EUR][1000 genomes]
rs8034080	0.86[EUR][1000 genomes]
rs8037528	1.00[ASN][1000 genomes]
rs8041096	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:23 , 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	nsv524613	chr15:50656449-50868779	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv1040717	chr15:50715572-50846521	Strong transcription Genic enhancers Weak transcription Enhancers Active TSS 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	27 gene(s)	inside rSNPs	diseases
5	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
6	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
7	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
8	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
9	nsv1049576	chr15:50744781-50843495	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	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
20	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
21	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
22	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
23	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

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:50785800-50798400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr15:50786200-50810000	Weak transcription	Psoas Muscle	Psoas
3	chr15:50786400-50798400	Weak transcription	Gastric	stomach
4	chr15:50791400-50805400	Weak transcription	Small Intestine	intestine
5	chr15:50793200-50799800	Weak transcription	Brain Cingulate Gyrus	brain
6	chr15:50793200-50804400	Weak transcription	Primary hematopoietic stem cells	blood
7	chr15:50793400-50805200	Weak transcription	Brain Hippocampus Middle	brain
8	chr15:50794200-50799200	Weak transcription	NH-A	brain
9	chr15:50794400-50804600	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr15:50795400-50798400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr15:50795800-50798800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr15:50795800-50800200	Weak transcription	GM12878-XiMat	blood
13	chr15:50795800-50802600	Weak transcription	Fetal Brain Female	brain
14	chr15:50795800-50803600	Weak transcription	Fetal Lung	lung
15	chr15:50795800-50804000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr15:50795800-50807200	Weak transcription	Adipose Nuclei	Adipose
17	chr15:50796000-50798400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr15:50796000-50798800	Weak transcription	Lung	lung
19	chr15:50796000-50798800	Weak transcription	HSMM	muscle
20	chr15:50796000-50799400	Weak transcription	Primary neutrophils fromperipheralblood	blood
21	chr15:50796000-50800000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr15:50796000-50800800	Weak transcription	Fetal Intestine Small	intestine
23	chr15:50796000-50801400	Weak transcription	Placenta	Placenta
24	chr15:50796000-50803200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr15:50796000-50804400	Weak transcription	Left Ventricle	heart
26	chr15:50796000-50807200	Weak transcription	A549	lung
27	chr15:50796200-50803600	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr15:50796200-50804800	Weak transcription	Primary T cells from cord blood	blood
29	chr15:50796600-50798400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr15:50796600-50801600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr15:50796600-50804800	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr15:50796800-50798400	Weak transcription	Primary B cells from cord blood	blood
33	chr15:50796800-50798400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr15:50796800-50798400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr15:50796800-50798400	Weak transcription	Fetal Muscle Trunk	muscle
36	chr15:50796800-50798600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr15:50796800-50807200	Weak transcription	Liver	Liver
38	chr15:50797000-50798600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr15:50797000-50798600	Weak transcription	Primary monocytes fromperipheralblood	blood
40	chr15:50797000-50798600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr15:50797000-50798600	Weak transcription	Duodenum Mucosa	Duodenum
42	chr15:50797000-50798600	Weak transcription	Fetal Muscle Leg	muscle
43	chr15:50797000-50798600	Weak transcription	Fetal Stomach	stomach
44	chr15:50797000-50800800	Weak transcription	Thymus	Thymus
45	chr15:50797000-50805400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr15:50797400-50811600	Weak transcription	Stomach Smooth Muscle	stomach
47	chr15:50797600-50799200	Weak transcription	Monocytes-CD14+_RO01746	blood
48	chr15:50798000-50798400	Enhancers	iPS-15b Cell Line	embryonic stem cell
49	chr15:50798000-50798400	Enhancers	iPS-20b Cell Line	embryonic stem cell
50	chr15:50798000-50798600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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