Variant report

Variant	rs72733450
Chromosome Location	chr15:40727879-40727880
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr15:40727756-40727962	K562	blood:	n/a	n/a
2	POLR2A	chr15:40727867-40727894	Hela-S3	cervix:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:40727012..40730697-chr15:40730781..40733287,4	MCF-7	breast:
2	chr15:40727351..40729122-chr15:40759443..40761752,2	K562	blood:
3	chr15:40659345..40661369-chr15:40727468..40729133,3	K562	blood:
4	chr15:40720491..40723802-chr15:40727203..40729063,3	MCF-7	breast:
5	chr15:40659345..40661369-chr15:40727468..40729027,2	K562	blood:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-BAHD1-1	chr15:40727616-40728134	XLOC_011221
2	lnc-BAHD1-1	chr15:40727616-40728140	XLOC_011221
3	lnc-BAHD1-1	chr15:40727616-40728138	XLOC_011221

No data

Variant related genes	Relation type
BAHD1	TF binding region
ENSG00000140320	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11541641	0.90[EUR][1000 genomes]
rs11541643	0.90[EUR][1000 genomes]
rs12185076	0.87[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs16970653	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs16970660	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2229312	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs28379196	0.91[EUR][1000 genomes]
rs6492944	0.90[EUR][1000 genomes]
rs68169695	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7176592	0.90[EUR][1000 genomes]
rs7177949	0.90[EUR][1000 genomes]
rs72733427	0.91[EUR][1000 genomes]
rs72733428	0.90[EUR][1000 genomes]
rs72733434	0.90[EUR][1000 genomes]
rs72733437	0.90[EUR][1000 genomes]
rs72733442	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72733444	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72733445	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72733449	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72733453	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73383135	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs8031814	0.90[EUR][1000 genomes]
rs8031994	0.90[EUR][1000 genomes]
rs8032114	0.89[EUR][1000 genomes]
rs8036457	0.90[EUR][1000 genomes]
rs8037941	0.90[EUR][1000 genomes]
rs875767	0.94[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	esv34145	chr15:40549617-40889824	Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs72733450	C15orf57	cis	Adipose Subcutaneous	GTEx

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:40708400-40728000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr15:40710800-40728000	Weak transcription	Aorta	Aorta
3	chr15:40714200-40728000	Weak transcription	Brain Substantia Nigra	brain
4	chr15:40714200-40728000	Weak transcription	Right Ventricle	heart
5	chr15:40714400-40728000	Weak transcription	Brain Anterior Caudate	brain
6	chr15:40719600-40728000	Weak transcription	Lung	lung
7	chr15:40727000-40728400	Enhancers	K562	blood
8	chr15:40727200-40728000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
9	chr15:40727200-40728200	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
10	chr15:40727400-40728000	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr15:40727400-40728000	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
12	chr15:40727400-40728000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
13	chr15:40727400-40728000	Bivalent Enhancer	Primary hematopoietic stem cells	blood
14	chr15:40727400-40728000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
15	chr15:40727400-40728000	Bivalent Enhancer	Fetal Intestine Large	intestine
16	chr15:40727400-40728200	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
17	chr15:40727400-40728200	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
18	chr15:40727400-40728200	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
19	chr15:40727400-40728200	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr15:40727400-40728200	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
21	chr15:40727400-40729000	Flanking Bivalent TSS/Enh	Thymus	Thymus
22	chr15:40727600-40728000	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
23	chr15:40727600-40728000	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr15:40727600-40728000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
25	chr15:40727600-40728000	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
26	chr15:40727600-40728000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
27	chr15:40727600-40728000	Bivalent Enhancer	Fetal Stomach	stomach
28	chr15:40727600-40728000	Enhancers	Gastric	stomach
29	chr15:40727600-40728000	Bivalent Enhancer	Stomach Mucosa	stomach
30	chr15:40727600-40728200	Flanking Bivalent TSS/Enh	H9 Cell Line	embryonic stem cell
31	chr15:40727600-40728200	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
32	chr15:40727600-40728200	Enhancers	Brain Inferior Temporal Lobe	brain
33	chr15:40727600-40728200	Enhancers	Placenta Amnion	Placenta Amnion
34	chr15:40727600-40728400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
35	chr15:40727600-40729400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr15:40727600-40729400	Bivalent Enhancer	Fetal Heart	heart
37	chr15:40727600-40730200	Bivalent Enhancer	Fetal Brain Male	brain
38	chr15:40727800-40728000	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
39	chr15:40727800-40728000	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr15:40727800-40728000	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr15:40727800-40728000	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
42	chr15:40727800-40728000	Bivalent Enhancer	Primary B cells from cord blood	blood
43	chr15:40727800-40728000	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
44	chr15:40727800-40728000	Enhancers	Primary T helper naive cells from peripheral blood	blood
45	chr15:40727800-40728000	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
46	chr15:40727800-40728000	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
47	chr15:40727800-40728000	Enhancers	Primary T helper cells fromperipheralblood	blood
48	chr15:40727800-40728000	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr15:40727800-40728000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr15:40727800-40728000	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin

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