Variant report

Variant	rs1648248
Chromosome Location	chr15:73594290-73594291
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:73592525..73594597-chr15:74218850..74221269,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000261801	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs1017809	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1029	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11853109	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11856383	0.82[EUR][1000 genomes]
rs11856433	0.82[EUR][1000 genomes]
rs11857053	0.82[EUR][1000 genomes]
rs13329282	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1382780	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1678245	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1714529	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1714530	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1714532	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1812363	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1842164	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1895842	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1979410	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2169952	0.82[EUR][1000 genomes]
rs2254390	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2254818	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2619259	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs2623990	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2623994	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2623996	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2624002	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2660823	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2680347	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2680348	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2680350	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2680351	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs28547177	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs28582318	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs28676873	0.82[EUR][1000 genomes]
rs28808999	0.82[EUR][1000 genomes]
rs28828370	0.82[EUR][1000 genomes]
rs4287530	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4325518	0.82[EUR][1000 genomes]
rs4776626	0.82[EUR][1000 genomes]
rs490567	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs492448	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs514632	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs524457	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs533460	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs550212	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs576414	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6495054	0.82[EUR][1000 genomes]
rs7176908	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7403367	0.82[EUR][1000 genomes]
rs8031718	0.82[EUR][1000 genomes]
rs8035717	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs899480	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9920152	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9920459	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9920675	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv904343	chr15:73396760-73775043	Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:73536200-73602000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr15:73552800-73598400	Weak transcription	Small Intestine	intestine
3	chr15:73560800-73597200	Strong transcription	Rectal Mucosa Donor 31	rectum
4	chr15:73563200-73598600	Weak transcription	Stomach Mucosa	stomach
5	chr15:73566400-73597800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr15:73568600-73600800	Strong transcription	Rectal Mucosa Donor 29	rectum
7	chr15:73570200-73597000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
8	chr15:73570400-73597000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr15:73571200-73601400	Strong transcription	Fetal Stomach	stomach
10	chr15:73574000-73596800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr15:73576400-73594600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr15:73577800-73598200	Strong transcription	Duodenum Mucosa	Duodenum
13	chr15:73579200-73598200	Weak transcription	Psoas Muscle	Psoas
14	chr15:73580400-73594400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr15:73581600-73598000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr15:73582000-73595200	Weak transcription	Primary T cells fromperipheralblood	blood
17	chr15:73582000-73598000	Weak transcription	Fetal Heart	heart
18	chr15:73582800-73596800	Strong transcription	Fetal Lung	lung
19	chr15:73583400-73597000	Weak transcription	Primary T helper cells fromperipheralblood	blood
20	chr15:73583400-73598400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr15:73584600-73598000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr15:73584800-73597000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr15:73585000-73599400	Strong transcription	Skeletal Muscle Male	skeletal muscle
24	chr15:73585400-73597200	Strong transcription	Fetal Muscle Trunk	muscle
25	chr15:73585400-73599600	Strong transcription	Cortex derived primary cultured neurospheres	brain
26	chr15:73585600-73597000	Strong transcription	Brain Inferior Temporal Lobe	brain
27	chr15:73586800-73601200	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr15:73587200-73597000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr15:73587200-73597000	Strong transcription	Brain Angular Gyrus	brain
30	chr15:73587400-73596600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
31	chr15:73587600-73597400	Strong transcription	Skeletal Muscle Female	skeletal muscle
32	chr15:73588000-73596200	Weak transcription	Primary B cells from cord blood	blood
33	chr15:73588400-73598000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr15:73588600-73594600	Weak transcription	HepG2	liver
35	chr15:73588600-73598200	Weak transcription	Hela-S3	cervix
36	chr15:73588600-73598600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr15:73588800-73597800	Weak transcription	HMEC	breast
38	chr15:73588800-73601400	Strong transcription	Fetal Intestine Large	intestine
39	chr15:73588800-73601800	Strong transcription	Fetal Intestine Small	intestine
40	chr15:73589000-73596600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr15:73589200-73596200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
42	chr15:73589200-73597200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr15:73590000-73597000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr15:73590200-73595200	Weak transcription	Fetal Brain Male	brain
45	chr15:73590400-73596600	Strong transcription	HUES64 Cell Line	embryonic stem cell
46	chr15:73590600-73596200	Strong transcription	HUES6 Cell Line	embryonic stem cell
47	chr15:73590600-73596800	Strong transcription	HUES48 Cell Line	embryonic stem cell
48	chr15:73591400-73594600	Weak transcription	Fetal Kidney	kidney
49	chr15:73591400-73597600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr15:73591400-73598200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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