Variant report

Variant	rs72866312
Chromosome Location	chr4:79231742-79231743
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	chr4:79169550..79170466-chr4:79230990..79231892,2	MCF-7	breast:
2	chr4:79169561..79170479-chr4:79230995..79231833,2	MCF-7	breast:

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10028072	0.82[ASN][1000 genomes]
rs1017646	0.82[ASN][1000 genomes]
rs1017647	0.82[ASN][1000 genomes]
rs1017648	0.82[ASN][1000 genomes]
rs1017650	0.82[ASN][1000 genomes]
rs1017651	0.82[ASN][1000 genomes]
rs11098114	0.82[ASN][1000 genomes]
rs13118323	0.82[ASN][1000 genomes]
rs1378237	0.82[ASN][1000 genomes]
rs1378238	0.82[ASN][1000 genomes]
rs1454894	0.82[ASN][1000 genomes]
rs1454900	0.82[ASN][1000 genomes]
rs1454901	0.82[ASN][1000 genomes]
rs1580105	0.82[ASN][1000 genomes]
rs17003092	0.82[ASN][1000 genomes]
rs17003108	0.82[ASN][1000 genomes]
rs17003121	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs1840390	0.82[ASN][1000 genomes]
rs1840393	0.82[ASN][1000 genomes]
rs1952400	0.82[ASN][1000 genomes]
rs1999053	0.82[ASN][1000 genomes]
rs2008587	0.82[ASN][1000 genomes]
rs2013764	0.82[ASN][1000 genomes]
rs2013770	0.82[ASN][1000 genomes]
rs2045169	0.82[ASN][1000 genomes]
rs2124145	0.82[ASN][1000 genomes]
rs2225198	0.82[ASN][1000 genomes]
rs2867014	0.82[ASN][1000 genomes]
rs28803795	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28806931	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs345503	0.82[ASN][1000 genomes]
rs345506	0.82[ASN][1000 genomes]
rs345528	1.00[ASN][1000 genomes]
rs4859919	0.82[ASN][1000 genomes]
rs4859921	0.82[ASN][1000 genomes]
rs4859922	0.82[ASN][1000 genomes]
rs60608669	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61283188	0.82[ASN][1000 genomes]
rs6533564	0.82[ASN][1000 genomes]
rs6820900	0.82[ASN][1000 genomes]
rs6822551	0.82[ASN][1000 genomes]
rs6846166	0.82[ASN][1000 genomes]
rs6847377	0.82[ASN][1000 genomes]
rs6850956	0.82[ASN][1000 genomes]
rs6855457	0.82[ASN][1000 genomes]
rs72864520	0.82[ASN][1000 genomes]
rs72864521	0.82[ASN][1000 genomes]
rs72864564	0.82[ASN][1000 genomes]
rs72864567	0.82[ASN][1000 genomes]
rs72864571	0.82[ASN][1000 genomes]
rs72864577	0.82[ASN][1000 genomes]
rs72864587	0.82[ASN][1000 genomes]
rs72866323	0.91[ASN][1000 genomes]
rs7438056	0.82[ASN][1000 genomes]
rs7667670	0.82[ASN][1000 genomes]
rs967635	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534024	chr4:78785189-79437403	ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Genic enhancers 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	18 gene(s)	inside rSNPs	diseases
2	nsv1009633	chr4:78887573-79652236	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv525530	chr4:79024524-79266563	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
4	nsv1010782	chr4:79057839-79387207	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	nsv829978	chr4:79144453-79291868	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	esv2763369	chr4:79229435-79232154	Strong transcription Genic enhancers Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:79198600-79241400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr4:79208800-79236800	Weak transcription	Fetal Intestine Large	intestine
3	chr4:79215800-79237600	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr4:79215800-79243800	Weak transcription	Right Ventricle	heart
5	chr4:79220400-79246600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr4:79220400-79246600	Weak transcription	HMEC	breast
7	chr4:79220600-79234200	Weak transcription	HSMMtube	muscle
8	chr4:79220600-79241400	Weak transcription	Aorta	Aorta
9	chr4:79220800-79243000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr4:79221000-79237400	Weak transcription	Fetal Heart	heart
11	chr4:79221000-79240000	Weak transcription	Psoas Muscle	Psoas
12	chr4:79221200-79232600	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr4:79221200-79263000	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr4:79227000-79241400	Weak transcription	Left Ventricle	heart
15	chr4:79229000-79232000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
16	chr4:79229000-79233200	Strong transcription	HepG2	liver
17	chr4:79229200-79233200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr4:79229400-79231800	Strong transcription	HUES48 Cell Line	embryonic stem cell
19	chr4:79229400-79241000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr4:79229400-79241200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr4:79229600-79231800	Strong transcription	H1 Cell Line	embryonic stem cell
22	chr4:79229600-79232400	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr4:79229800-79231800	Strong transcription	HUES6 Cell Line	embryonic stem cell
24	chr4:79229800-79236400	Weak transcription	Fetal Intestine Small	intestine
25	chr4:79229800-79237600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr4:79229800-79257600	Weak transcription	Fetal Stomach	stomach
27	chr4:79230000-79231800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
28	chr4:79230000-79232400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr4:79230000-79239600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr4:79230200-79231800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr4:79230200-79232400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr4:79230200-79268600	Weak transcription	Pancreas	Pancrea
33	chr4:79230400-79236800	Weak transcription	Fetal Lung	lung
34	chr4:79230400-79237000	Weak transcription	Fetal Kidney	kidney
35	chr4:79230600-79258000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr4:79230800-79232400	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr4:79231000-79232000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr4:79231000-79232200	Enhancers	NHDF-Ad	bronchial
39	chr4:79231000-79235400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr4:79231000-79235800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr4:79231200-79231800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr4:79231200-79232400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr4:79231400-79232000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr4:79231600-79232200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr4:79231600-79237400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr4:79231600-79244400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr4:79231600-79260400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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