Variant report

Variant	rs12306645
Chromosome Location	chr12:49831804-49831805
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	chr12:49831003..49833451-chr12:49836364..49838870,2	K562	blood:

Variant related genes	Relation type
ENSG00000257464	Chromatin interaction

Extended variants
information (count: 75 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs10160947	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10161131	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10506284	1.00[ASN][1000 genomes]
rs10783314	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10875955	0.83[AMR][1000 genomes]
rs10875958	0.83[EUR][1000 genomes]
rs11168988	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11169005	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11169008	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11169009	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11169014	0.83[EUR][1000 genomes]
rs11169015	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11169016	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11169017	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11169027	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11169043	0.84[EUR][1000 genomes]
rs11169045	0.83[EUR][1000 genomes]
rs11169048	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11169049	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11169058	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11169059	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11611743	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11615710	0.80[EUR][1000 genomes]
rs11834161	1.00[ASN][1000 genomes]
rs12296440	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12299282	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12301632	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12302036	0.83[ASN][1000 genomes]
rs12306118	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12306212	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12315996	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12320284	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12322319	1.00[ASN][1000 genomes]
rs2272478	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs28450055	1.00[ASN][1000 genomes]
rs57108124	1.00[ASN][1000 genomes]
rs57601151	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58095611	0.81[EUR][1000 genomes]
rs59250459	1.00[ASN][1000 genomes]
rs60808917	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs61340540	1.00[ASN][1000 genomes]
rs6580707	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6580709	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6580710	1.00[ASN][1000 genomes]
rs6580711	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6580715	0.84[EUR][1000 genomes]
rs6580716	1.00[ASN][1000 genomes]
rs7132684	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7139061	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7294648	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7295162	1.00[ASN][1000 genomes]
rs7295556	0.84[EUR][1000 genomes]
rs7309997	0.83[ASN][1000 genomes]
rs73295291	1.00[ASN][1000 genomes]
rs73295300	1.00[ASN][1000 genomes]
rs73297209	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73297210	1.00[ASN][1000 genomes]
rs73297243	1.00[ASN][1000 genomes]
rs7342365	1.00[ASN][1000 genomes]
rs74089066	1.00[ASN][1000 genomes]
rs7488923	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7955541	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7961032	0.83[ASN][1000 genomes]
rs7962951	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7969010	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7969099	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7970059	0.84[EUR][1000 genomes]
rs7974420	0.84[EUR][1000 genomes]
rs7980731	0.83[EUR][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	nsv1036452	chr12:49376285-49867760	Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	315 gene(s)	inside rSNPs	diseases
2	nsv1039176	chr12:49678529-49832618	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
3	nsv899068	chr12:49714103-49924637	Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
4	nsv832405	chr12:49720279-49910862	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
5	nsv899069	chr12:49760499-49924637	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
6	nsv899070	chr12:49811311-49941500	Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:49764200-49840200	Weak transcription	Fetal Lung	lung
2	chr12:49798400-49856000	Weak transcription	Primary T cells from cord blood	blood
3	chr12:49798600-49840000	Weak transcription	Hela-S3	cervix
4	chr12:49812600-49849000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr12:49816000-49848800	Weak transcription	Fetal Kidney	kidney
6	chr12:49816200-49833000	Weak transcription	Duodenum Mucosa	Duodenum
7	chr12:49817600-49832400	Weak transcription	HepG2	liver
8	chr12:49820400-49854400	Weak transcription	Dnd41	blood
9	chr12:49822800-49842600	Weak transcription	NHLF	lung
10	chr12:49823000-49832400	Weak transcription	A549	lung
11	chr12:49823000-49835600	Weak transcription	HUVEC	blood vessel
12	chr12:49823000-49836200	Weak transcription	HMEC	breast
13	chr12:49823000-49840200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr12:49823000-49840200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr12:49823000-49854200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr12:49823000-49856000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr12:49823000-49915800	Weak transcription	Primary B cells from cord blood	blood
18	chr12:49823200-49856000	Weak transcription	NHEK	skin
19	chr12:49823200-49856400	Weak transcription	HSMM	muscle
20	chr12:49823400-49840000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr12:49823400-49854400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr12:49823400-49856000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr12:49823400-49857400	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr12:49823400-49876000	Weak transcription	Osteobl	bone
25	chr12:49825800-49839400	Weak transcription	Fetal Stomach	stomach
26	chr12:49826000-49833800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr12:49826600-49832800	Weak transcription	Small Intestine	intestine
28	chr12:49828000-49863400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr12:49829400-49855000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr12:49831200-49849000	Weak transcription	NH-A	brain
31	chr12:49831600-49852000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr12:49831800-49832400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr12:49831800-49838400	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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