Variant report

Variant	rs72747853
Chromosome Location	chr15:62144371-62144372
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:62142649..62144721-chr15:62150330..62151848,2	MCF-7	breast:

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10519144	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12232347	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12439027	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12439366	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12440748	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12441358	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12441436	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12441791	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12442506	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12442569	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12591667	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12594218	0.95[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12594396	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12595158	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1364809	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1559673	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17238110	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17238127	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17238189	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17238210	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17303831	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17303866	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17303873	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2113935	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs34516157	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35057371	0.82[EUR][1000 genomes]
rs35592904	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs36143406	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3784635	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3809516	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4774426	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4775446	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4775452	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7177538	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72747848	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72747849	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72747852	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72747855	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72747856	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72747868	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72747869	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72747870	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72747874	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72747879	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72747895	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72747896	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72747901	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72749703	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72749733	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72749742	0.81[ASN][1000 genomes]
rs72749744	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72749754	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs8030161	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8033347	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs963023	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9635356	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9788653	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9788739	0.95[AMR][1000 genomes];0.87[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	nsv904284	chr15:62123600-62243197	Weak transcription Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
2	nsv521334	chr15:62129809-62340126	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv527451	chr15:62129809-62340126	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:62132400-62159000	Weak transcription	HSMM	muscle
2	chr15:62132400-62171200	Weak transcription	HMEC	breast
3	chr15:62132800-62146600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr15:62135000-62161600	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr15:62136800-62150000	Weak transcription	HSMMtube	muscle
6	chr15:62137200-62144800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr15:62137400-62145400	Weak transcription	Liver	Liver
8	chr15:62138800-62184200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr15:62139200-62146000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr15:62139200-62146600	Weak transcription	Pancreas	Pancrea
11	chr15:62139200-62182200	Weak transcription	Brain Substantia Nigra	brain
12	chr15:62139400-62154800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr15:62139600-62145400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr15:62139800-62185200	Weak transcription	NHLF	lung
15	chr15:62140000-62184800	Weak transcription	Right Ventricle	heart
16	chr15:62140200-62180000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr15:62140400-62145800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr15:62140800-62146400	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr15:62140800-62149000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr15:62141000-62149400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr15:62141200-62149600	Weak transcription	Psoas Muscle	Psoas
22	chr15:62141200-62165400	Weak transcription	Brain Hippocampus Middle	brain
23	chr15:62141400-62146600	Weak transcription	GM12878-XiMat	blood
24	chr15:62141400-62160600	Weak transcription	Placenta	Placenta
25	chr15:62141400-62161400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr15:62141600-62146200	Weak transcription	Stomach Smooth Muscle	stomach
27	chr15:62141600-62146400	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr15:62141600-62149200	Weak transcription	Ovary	ovary
29	chr15:62141600-62161400	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr15:62141600-62165000	Weak transcription	Thymus	Thymus
31	chr15:62141800-62145800	Weak transcription	Primary neutrophils fromperipheralblood	blood
32	chr15:62141800-62146400	Weak transcription	Fetal Muscle Leg	muscle
33	chr15:62141800-62149400	Weak transcription	Aorta	Aorta
34	chr15:62142000-62145600	Weak transcription	Colon Smooth Muscle	Colon
35	chr15:62142000-62147400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr15:62142000-62165000	Weak transcription	Gastric	stomach
37	chr15:62142000-62209400	Weak transcription	Colonic Mucosa	Colon
38	chr15:62142200-62161600	Weak transcription	Fetal Stomach	stomach
39	chr15:62142200-62162800	Weak transcription	Hela-S3	cervix
40	chr15:62142400-62144600	Strong transcription	Primary hematopoietic stem cells	blood
41	chr15:62142400-62146400	Weak transcription	Brain Anterior Caudate	brain
42	chr15:62142400-62160800	Weak transcription	Fetal Muscle Trunk	muscle
43	chr15:62142400-62163800	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr15:62142400-62253000	Weak transcription	Spleen	Spleen
45	chr15:62142600-62144400	Strong transcription	Left Ventricle	heart
46	chr15:62142600-62145600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
47	chr15:62142600-62145800	Weak transcription	Primary B cells from peripheral blood	blood
48	chr15:62142600-62146400	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr15:62142600-62209200	Weak transcription	K562	blood
50	chr15:62142800-62144400	Weak transcription	Rectal Mucosa Donor 31	rectum

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