Variant report

Variant	rs72733442
Chromosome Location	chr15:40702509-40702510
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr15:40702223-40702628	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:40700603..40702646-chr15:40703222..40705401,2	MCF-7	breast:
2	chr15:40702415..40703948-chr15:40706457..40708796,2	K562	blood:
3	chr15:40657809..40661993-chr15:40702342..40704983,3	K562	blood:
4	chr15:40698036..40700084-chr15:40700377..40704412,6	MCF-7	breast:

Variant related genes	Relation type
IVD	TF binding region
ENSG00000259368	Chromatin interaction
ENSG00000128928	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11541641	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11541643	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12185076	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16970653	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16970660	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2229312	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28379196	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6492944	0.94[EUR][1000 genomes]
rs68169695	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7176592	0.94[EUR][1000 genomes]
rs7177949	0.94[EUR][1000 genomes]
rs72733427	0.88[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs72733428	0.94[EUR][1000 genomes]
rs72733434	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72733437	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72733444	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72733445	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72733449	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72733450	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72733453	0.94[EUR][1000 genomes]
rs73383135	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8031814	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8031994	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8032114	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8036457	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8037941	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs875767	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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
2	nsv510660	chr15:40552906-40721883	Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:40698600-40712400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr15:40698800-40702600	Weak transcription	Right Ventricle	heart
3	chr15:40698800-40702600	Weak transcription	A549	lung
4	chr15:40698800-40707000	Weak transcription	Psoas Muscle	Psoas
5	chr15:40698800-40707600	Weak transcription	NHEK	skin
6	chr15:40698800-40709600	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr15:40699000-40702600	Weak transcription	NH-A	brain
8	chr15:40699000-40703200	Weak transcription	Stomach Mucosa	stomach
9	chr15:40699000-40714000	Weak transcription	Small Intestine	intestine
10	chr15:40699600-40703000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr15:40699600-40704400	Strong transcription	Adipose Nuclei	Adipose
12	chr15:40699600-40704400	Strong transcription	Fetal Intestine Small	intestine
13	chr15:40699600-40704600	Strong transcription	Fetal Lung	lung
14	chr15:40699600-40710000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr15:40699600-40710800	Strong transcription	HUES64 Cell Line	embryonic stem cell
16	chr15:40699600-40710800	Strong transcription	Primary T cells from cord blood	blood
17	chr15:40699600-40711000	Strong transcription	HUES48 Cell Line	embryonic stem cell
18	chr15:40699600-40711000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
19	chr15:40699600-40711000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr15:40699600-40711200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
21	chr15:40699600-40712400	Weak transcription	Right Atrium	heart
22	chr15:40699600-40714000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr15:40699800-40702600	Weak transcription	Primary neutrophils fromperipheralblood	blood
24	chr15:40699800-40702600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr15:40699800-40702600	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr15:40699800-40702600	Weak transcription	Hela-S3	cervix
27	chr15:40699800-40704400	Strong transcription	Fetal Intestine Large	intestine
28	chr15:40699800-40709000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
29	chr15:40699800-40709200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr15:40699800-40709200	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr15:40699800-40710800	Strong transcription	NHLF	lung
32	chr15:40699800-40711000	Strong transcription	H9 Cell Line	embryonic stem cell
33	chr15:40699800-40711000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr15:40699800-40711000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr15:40699800-40711000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
36	chr15:40699800-40711000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr15:40699800-40711000	Strong transcription	Muscle Satellite Cultured Cells	--
38	chr15:40699800-40711000	Strong transcription	Skeletal Muscle Male	skeletal muscle
39	chr15:40699800-40711000	Strong transcription	Skeletal Muscle Female	skeletal muscle
40	chr15:40699800-40711000	Strong transcription	Osteobl	bone
41	chr15:40699800-40711400	Strong transcription	Rectal Mucosa Donor 29	rectum
42	chr15:40699800-40712400	Strong transcription	Fetal Stomach	stomach
43	chr15:40700000-40703800	Strong transcription	Duodenum Mucosa	Duodenum
44	chr15:40700000-40704200	Strong transcription	Colonic Mucosa	Colon
45	chr15:40700000-40705800	Strong transcription	NHDF-Ad	bronchial
46	chr15:40700000-40708400	Strong transcription	Rectal Smooth Muscle	rectum
47	chr15:40700000-40710600	Strong transcription	HSMM	muscle
48	chr15:40700000-40710800	Strong transcription	HUES6 Cell Line	embryonic stem cell
49	chr15:40700000-40710800	Strong transcription	Fetal Thymus	thymus
50	chr15:40700000-40711000	Strong transcription	H1 Cell Line	embryonic stem cell

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