Variant report

Variant	rs8024150
Chromosome Location	chr15:74346656-74346657
allele	C/T
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:7)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:74346274..74346810-chr15:74666060..74666858,2	MCF-7	breast:
2	chr15:74346480..74347030-chr15:74612757..74613449,2	MCF-7	breast:
3	chr15:74346094..74347046-chr15:74614640..74615508,4	K562	blood:
4	chr15:74346506..74347022-chr15:74612599..74613302,2	MCF-7	breast:
5	chr15:74346036..74347051-chr15:74419547..74420472,4	MCF-7	breast:
6	chr15:74346287..74347045-chr15:74614632..74615538,3	MCF-7	breast:
7	chr15:74264967..74265911-chr15:74346172..74346877,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PML-2	chr15:74346640-74347125	XLOC_011309

No data

Variant related genes	Relation type
ENSG00000167178	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11072473	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11072474	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11072475	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12438442	0.86[MEX][hapmap]
rs12595546	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28548701	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4886860	0.88[EUR][1000 genomes]
rs4886861	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4886867	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7179827	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7180506	0.90[EUR][1000 genomes]
rs8024467	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8029133	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758387	chr15:74215114-74464916	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	esv2760040	chr15:74215114-74464916	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv428308	chr15:74215114-74464916	Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv833052	chr15:74250378-74377150	Genic enhancers Enhancers Transcr. at gene 5' and 3' Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
5	nsv469619	chr15:74291859-74466321	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
6	nsv482362	chr15:74291859-74466321	Strong transcription Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
7	nsv457203	chr15:74308940-74347723	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
8	nsv569971	chr15:74308940-74347723	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer 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	7 gene(s)	inside rSNPs	diseases
9	nsv510666	chr15:74310738-74394745	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
10	nsv974597	chr15:74339226-74413654	Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs8024150	STOML1	cis	cerebellum	SCAN
rs8024150	CYP11A1	cis	cerebellum	SCAN

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:74342400-74347000	Enhancers	Skeletal Muscle Male	skeletal muscle
2	chr15:74342600-74365400	Weak transcription	Spleen	Spleen
3	chr15:74343400-74350400	Weak transcription	Left Ventricle	heart
4	chr15:74343400-74351200	Weak transcription	Aorta	Aorta
5	chr15:74343400-74358000	Weak transcription	Gastric	stomach
6	chr15:74343600-74347200	Enhancers	NHLF	lung
7	chr15:74344200-74350600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr15:74344600-74352400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr15:74345800-74346800	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr15:74345800-74346800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr15:74345800-74346800	Enhancers	HSMMtube	muscle
12	chr15:74345800-74347000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr15:74345800-74347000	Enhancers	Primary hematopoietic stem cells	blood
14	chr15:74345800-74347000	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr15:74345800-74347000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr15:74345800-74347000	Enhancers	Fetal Stomach	stomach
17	chr15:74345800-74347000	Enhancers	HSMM	muscle
18	chr15:74345800-74347000	Enhancers	NHDF-Ad	bronchial
19	chr15:74346000-74346800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr15:74346000-74346800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr15:74346000-74346800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
22	chr15:74346000-74346800	Enhancers	Liver	Liver
23	chr15:74346000-74346800	Enhancers	Brain Cingulate Gyrus	brain
24	chr15:74346000-74346800	Enhancers	Duodenum Mucosa	Duodenum
25	chr15:74346000-74346800	Enhancers	Esophagus	oesophagus
26	chr15:74346000-74346800	Enhancers	Fetal Intestine Small	intestine
27	chr15:74346000-74346800	Enhancers	Fetal Thymus	thymus
28	chr15:74346000-74346800	Enhancers	Lung	lung
29	chr15:74346000-74346800	Enhancers	Ovary	ovary
30	chr15:74346000-74346800	Enhancers	Right Ventricle	heart
31	chr15:74346000-74346800	Enhancers	GM12878-XiMat	blood
32	chr15:74346000-74347000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr15:74346000-74347000	Enhancers	Colon Smooth Muscle	Colon
34	chr15:74346000-74347000	Enhancers	Fetal Brain Female	brain
35	chr15:74346000-74347000	Enhancers	Rectal Smooth Muscle	rectum
36	chr15:74346000-74347200	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
37	chr15:74346000-74347200	Enhancers	Placenta	Placenta
38	chr15:74346200-74346800	Enhancers	Primary monocytes fromperipheralblood	blood
39	chr15:74346200-74346800	Enhancers	Primary T cells fromperipheralblood	blood
40	chr15:74346200-74346800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
41	chr15:74346200-74346800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
42	chr15:74346200-74346800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr15:74346200-74346800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr15:74346200-74346800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
45	chr15:74346200-74346800	Enhancers	K562	blood
46	chr15:74346200-74346800	Enhancers	NHEK	skin
47	chr15:74346200-74347000	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
48	chr15:74346200-74347000	Enhancers	Primary B cells from peripheral blood	blood
49	chr15:74346200-74347200	Enhancers	Brain Angular Gyrus	brain
50	chr15:74346400-74346800	Enhancers	Breast Myoepithelial Primary Cells	Breast

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