Variant report

Variant	rs72715031
Chromosome Location	chr8:124792899-124792900
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	chr8:124792618..124794440-chr8:125383847..125385509,2	MCF-7	breast:
2	chr8:124792839..124794847-chr8:124797341..124799697,2	K562	blood:

Variant related genes	Relation type
ENSG00000164983	Chromatin interaction

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

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

rs_ID	r²[population]
rs10089283	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10106428	1.00[ASN][1000 genomes]
rs10505442	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10956150	0.82[ASN][1000 genomes]
rs11987328	1.00[ASN][1000 genomes]
rs11991217	1.00[ASN][1000 genomes]
rs11997795	1.00[ASN][1000 genomes]
rs11998231	1.00[ASN][1000 genomes]
rs1367826	1.00[ASN][1000 genomes]
rs1431667	0.82[ASN][1000 genomes]
rs1431668	0.82[ASN][1000 genomes]
rs16898889	1.00[ASN][1000 genomes]
rs1991696	0.82[ASN][1000 genomes]
rs1991698	0.82[ASN][1000 genomes]
rs2116354	0.82[ASN][1000 genomes]
rs2116355	0.82[ASN][1000 genomes]
rs2163529	0.82[ASN][1000 genomes]
rs2163530	0.82[ASN][1000 genomes]
rs2272684	1.00[ASN][1000 genomes]
rs28412991	1.00[ASN][1000 genomes]
rs28589482	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28701862	1.00[ASN][1000 genomes]
rs3889940	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3889941	1.00[ASN][1000 genomes]
rs3955482	0.82[ASN][1000 genomes]
rs6470188	0.82[ASN][1000 genomes]
rs67260918	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72713164	0.90[ASN][1000 genomes]
rs72713165	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72715027	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72715028	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72715029	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72715030	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72715032	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72715035	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72715037	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72715039	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72715041	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72715042	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72715045	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72715049	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72715051	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72715053	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72715055	1.00[ASN][1000 genomes]
rs72715056	1.00[ASN][1000 genomes]
rs72715057	1.00[ASN][1000 genomes]
rs72715061	1.00[ASN][1000 genomes]
rs72715064	1.00[ASN][1000 genomes]
rs72715069	1.00[ASN][1000 genomes]
rs7826622	0.82[ASN][1000 genomes]
rs7826644	0.82[ASN][1000 genomes]
rs9297677	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs964059	0.82[ASN][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	nsv831451	chr8:124710946-124885148	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 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	chr8:124781800-124796000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr8:124781800-124811200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr8:124782200-124807800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr8:124782600-124793600	Weak transcription	Lung	lung
5	chr8:124782600-124795800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr8:124782800-124797400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr8:124783400-124796000	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr8:124783600-124794000	Weak transcription	Psoas Muscle	Psoas
9	chr8:124783600-124795200	Weak transcription	Aorta	Aorta
10	chr8:124783600-124797400	Weak transcription	Right Ventricle	heart
11	chr8:124783600-124808000	Weak transcription	Fetal Heart	heart
12	chr8:124785400-124815000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr8:124785600-124815000	Strong transcription	Duodenum Mucosa	Duodenum
14	chr8:124785800-124829000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr8:124786000-124825200	Strong transcription	Fetal Thymus	thymus
16	chr8:124786200-124803000	Strong transcription	HMEC	breast
17	chr8:124786200-124814400	Strong transcription	HSMM	muscle
18	chr8:124786200-124815200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr8:124786200-124815400	Strong transcription	Dnd41	blood
20	chr8:124786200-124825200	Strong transcription	HUES64 Cell Line	embryonic stem cell
21	chr8:124786400-124796200	Strong transcription	K562	blood
22	chr8:124786400-124805400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr8:124786400-124813800	Strong transcription	HUES48 Cell Line	embryonic stem cell
24	chr8:124786400-124815000	Strong transcription	HUES6 Cell Line	embryonic stem cell
25	chr8:124786400-124815200	Strong transcription	Rectal Mucosa Donor 29	rectum
26	chr8:124786400-124827200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr8:124786800-124801200	Strong transcription	HepG2	liver
28	chr8:124786800-124814600	Strong transcription	Placenta	Placenta
29	chr8:124787000-124813800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
30	chr8:124787000-124816400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr8:124787000-124822800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr8:124787000-124827000	Strong transcription	Primary T helper cells fromperipheralblood	blood
33	chr8:124787400-124814400	Strong transcription	A549	lung
34	chr8:124787600-124818800	Strong transcription	Liver	Liver
35	chr8:124787800-124794000	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr8:124787800-124796000	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr8:124788600-124796000	Weak transcription	Fetal Brain Male	brain
38	chr8:124788800-124797400	Weak transcription	Pancreas	Pancrea
39	chr8:124789000-124802000	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
40	chr8:124789200-124793800	Weak transcription	Spleen	Spleen
41	chr8:124789200-124794800	Strong transcription	GM12878-XiMat	blood
42	chr8:124789200-124796000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr8:124789200-124796200	Weak transcription	Small Intestine	intestine
44	chr8:124789200-124797800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr8:124789200-124824600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
46	chr8:124789400-124793600	Weak transcription	Fetal Intestine Small	intestine
47	chr8:124789400-124793800	Weak transcription	Fetal Stomach	stomach
48	chr8:124789400-124796000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr8:124789400-124796000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr8:124789400-124796000	Weak transcription	Gastric	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links