Variant report

Variant	rs12508596
Chromosome Location	chr4:69923133-69923134
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 78 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs10000598	0.80[EUR][1000 genomes]
rs10006282	0.80[EUR][1000 genomes]
rs10010699	0.80[EUR][1000 genomes]
rs10025070	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs10033045	0.93[ASN][1000 genomes]
rs10518057	0.80[EUR][1000 genomes]
rs10903224	0.80[EUR][1000 genomes]
rs11931604	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11932983	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11933432	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11936412	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11937195	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11945620	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11945705	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs11946976	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12499093	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12499192	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12503622	0.82[ASN][1000 genomes]
rs12506592	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12507173	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12507556	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12508920	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12509040	0.86[EUR][1000 genomes]
rs13132528	0.80[EUR][1000 genomes]
rs13136922	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13148603	0.80[EUR][1000 genomes]
rs1379813	0.80[EUR][1000 genomes]
rs1379816	0.80[EUR][1000 genomes]
rs1458245	0.80[EUR][1000 genomes]
rs1458246	0.80[EUR][1000 genomes]
rs1598904	0.80[EUR][1000 genomes]
rs17605102	0.85[EUR][1000 genomes]
rs1841052	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1993546	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2125307	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28365062	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34545777	0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34561399	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4259121	0.93[ASN][1000 genomes]
rs4343788	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4348159	0.87[ASN][1000 genomes]
rs4418041	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4434329	0.93[ASN][1000 genomes]
rs4554146	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4694152	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4694550	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4694606	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55676022	0.82[ASN][1000 genomes]
rs55831171	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55905314	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56943005	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57468707	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58965335	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59314351	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59732068	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60276248	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62296919	0.93[ASN][1000 genomes]
rs62296937	0.84[EUR][1000 genomes]
rs62296941	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62298861	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62298872	0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs66698711	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72642933	0.84[EUR][1000 genomes]
rs72642938	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72642947	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72642961	0.93[ASN][1000 genomes]
rs7435335	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7441753	0.80[EUR][1000 genomes]
rs7680341	0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7692753	0.81[EUR][1000 genomes]
rs9991142	0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999654	chr4:69661415-70132110	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
2	esv3420586	chr4:69680878-70322918	Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
3	nsv1067773	chr4:69718248-70715727	ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	esv3468151	chr4:69718675-70322776	Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
5	esv3468153	chr4:69718675-70322776	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
6	nsv594582	chr4:69827340-69988378	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	nsv879379	chr4:69878929-69987249	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:69917600-69923200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr4:69919400-69923200	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr4:69919600-69923200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr4:69919600-69924000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr4:69920600-69923200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr4:69920600-69923400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr4:69920600-69923400	Weak transcription	Pancreas	Pancrea
8	chr4:69920800-69923400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr4:69921200-69923400	Weak transcription	Stomach Mucosa	stomach
10	chr4:69921400-69923200	Weak transcription	Osteobl	bone
11	chr4:69922600-69925000	Enhancers	Fetal Intestine Large	intestine
12	chr4:69922800-69923200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr4:69922800-69923200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr4:69922800-69923200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
15	chr4:69922800-69923200	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr4:69922800-69923200	Active TSS	iPS-20b Cell Line	embryonic stem cell
17	chr4:69922800-69923200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr4:69922800-69923200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr4:69922800-69923600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr4:69922800-69923600	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr4:69922800-69924000	Enhancers	HSMMtube	muscle
22	chr4:69922800-69924200	Enhancers	HSMM	muscle
23	chr4:69922800-69924800	Flanking Active TSS	Liver	Liver
24	chr4:69922800-69925000	Enhancers	H1 Cell Line	embryonic stem cell
25	chr4:69923000-69923200	Active TSS	Cortex derived primary cultured neurospheres	brain
26	chr4:69923000-69923200	Enhancers	Duodenum Mucosa	Duodenum
27	chr4:69923000-69923400	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr4:69923000-69923400	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
29	chr4:69923000-69923400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr4:69923000-69923400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr4:69923000-69923400	Enhancers	Fetal Intestine Small	intestine
32	chr4:69923000-69923600	Flanking Active TSS	GM12878-XiMat	blood
33	chr4:69923000-69923800	Enhancers	Muscle Satellite Cultured Cells	--
34	chr4:69923000-69923800	Active TSS	Fetal Kidney	kidney
35	chr4:69923000-69924000	Enhancers	A549	lung
36	chr4:69923000-69924600	Flanking Active TSS	HepG2	liver
37	chr4:69923000-69924800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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