Variant report

Variant	rs12341377
Chromosome Location	chr9:100610382-100610383
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:100608561..100611122-chr9:100630030..100632695,2	K562	blood:

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs10046805	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10113884	0.83[EUR][1000 genomes]
rs10113907	0.80[AFR][1000 genomes]
rs10117642	0.81[EUR][1000 genomes]
rs10119760	0.83[EUR][1000 genomes]
rs10119795	0.81[AFR][1000 genomes]
rs10119853	0.83[EUR][1000 genomes]
rs10120412	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10122541	0.85[AMR][1000 genomes]
rs10123699	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10759975	0.81[EUR][1000 genomes]
rs10759981	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10818124	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10818133	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10818175	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10983958	0.90[ASN][1000 genomes]
rs10983959	0.90[ASN][1000 genomes]
rs10984103	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1156850	0.83[ASN][1000 genomes]
rs12342417	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12343182	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12347191	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12348304	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12348691	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13287360	0.81[EUR][1000 genomes]
rs13299924	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13300874	0.81[AFR][1000 genomes]
rs13302470	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1443434	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1443435	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1443436	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1867277	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1867278	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1867280	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1955143	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1955144	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1955145	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2401639	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2417575	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2417576	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3021526	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3758248	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3758249	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3758251	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4297160	0.87[ASN][1000 genomes]
rs4460498	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4743139	0.81[EUR][1000 genomes]
rs6478437	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6478445	0.83[EUR][1000 genomes]
rs7033315	0.82[AFR][1000 genomes]
rs7033765	0.87[ASN][1000 genomes]
rs7037175	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7045138	0.87[ASN][1000 genomes]
rs7357707	0.82[AFR][1000 genomes]
rs7851552	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7851660	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7860144	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7868534	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7870540	0.83[ASN][1000 genomes]
rs7870795	0.83[ASN][1000 genomes]
rs874004	0.83[AFR][1000 genomes]
rs894673	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs907577	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs907581	0.83[EUR][1000 genomes]
rs925487	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs993501	0.83[EUR][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	nsv893611	chr9:100561055-100739888	Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
2	nsv6627	chr9:100576258-100621034	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:100609600-100610400	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
2	chr9:100609600-100610600	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
3	chr9:100609600-100611000	Enhancers	Pancreas	Pancrea
4	chr9:100609600-100611200	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
5	chr9:100609800-100610800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr9:100609800-100611400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
7	chr9:100610000-100610400	Bivalent Enhancer	Psoas Muscle	Psoas
8	chr9:100610000-100610600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
9	chr9:100610000-100610600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr9:100610000-100610800	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr9:100610000-100611000	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr9:100610000-100611200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
13	chr9:100610000-100611400	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
14	chr9:100610000-100611800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
15	chr9:100610200-100610400	Flanking Bivalent TSS/Enh	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr9:100610200-100610400	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr9:100610200-100610400	Bivalent Enhancer	Left Ventricle	heart
18	chr9:100610200-100610800	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
19	chr9:100610200-100610800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
20	chr9:100610200-100610800	Bivalent Enhancer	HMEC	breast
21	chr9:100610200-100611000	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr9:100610200-100611000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
23	chr9:100610200-100611600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell

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