Variant report

Variant	rs7954039
Chromosome Location	chr12:121398654-121398655
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:121391443..121393286-chr12:121397886..121399951,2	K562	blood:
2	chr12:121388948..121393139-chr12:121395354..121400145,4	K562	blood:
3	chr12:121398625..121400416-chr12:121405425..121406992,2	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10774579	0.87[ASN][1000 genomes]
rs11065358	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11065365	0.83[ASN][1000 genomes]
rs11065385	0.83[AMR][1000 genomes]
rs1169288	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1183910	0.84[AMR][1000 genomes]
rs1696359	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1732391	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1920792	0.99[ASN][1000 genomes]
rs2178463	0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2243458	0.80[AMR][1000 genomes]
rs2244608	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2251468	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2255531	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2393792	0.81[ASN][1000 genomes]
rs2464190	0.91[ASN][1000 genomes]
rs2649999	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2650000	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2701175	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2701194	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6489786	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7135337	0.92[ASN][1000 genomes]
rs7305618	0.98[ASN][1000 genomes]
rs7953249	0.99[ASN][1000 genomes]
rs7954331	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv521928	chr12:121041728-121761800	Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	nsv1037070	chr12:121069938-121459047	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv899559	chr12:121324727-121592689	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	esv1838192	chr12:121363589-121402932	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv899560	chr12:121371233-121560581	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised 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	23 gene(s)	inside rSNPs	diseases
6	nsv899561	chr12:121376416-121525591	Enhancers Flanking Active TSS Active TSS Genic enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
7	nsv899562	chr12:121376416-121565870	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121393000-121399400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr12:121393600-121400600	Enhancers	Fetal Intestine Large	intestine
3	chr12:121394600-121398800	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr12:121394600-121408200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr12:121395800-121408200	Weak transcription	Fetal Kidney	kidney
6	chr12:121396200-121399800	Enhancers	Fetal Thymus	thymus
7	chr12:121396600-121399000	Enhancers	Thymus	Thymus
8	chr12:121396600-121400600	Enhancers	Duodenum Mucosa	Duodenum
9	chr12:121396800-121398800	Enhancers	Primary T helper cells fromperipheralblood	blood
10	chr12:121396800-121398800	Enhancers	Primary T killer memory cells from peripheral blood	blood
11	chr12:121396800-121399000	Enhancers	Primary T helper cells PMA-I stimulated	--
12	chr12:121396800-121399000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
13	chr12:121396800-121399200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
14	chr12:121397000-121398800	Enhancers	Primary T helper naive cells from peripheral blood	blood
15	chr12:121397000-121399000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
16	chr12:121397000-121399200	Enhancers	GM12878-XiMat	blood
17	chr12:121397000-121400600	Enhancers	Stomach Mucosa	stomach
18	chr12:121397200-121399400	Enhancers	Esophagus	oesophagus
19	chr12:121397600-121398800	Weak transcription	Colonic Mucosa	Colon
20	chr12:121397600-121401000	Enhancers	Fetal Intestine Small	intestine
21	chr12:121397600-121406800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr12:121397800-121399400	Enhancers	Rectal Mucosa Donor 29	rectum
23	chr12:121397800-121399600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr12:121397800-121400000	Weak transcription	Small Intestine	intestine
25	chr12:121397800-121400400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr12:121397800-121405400	Weak transcription	Pancreas	Pancrea
27	chr12:121398000-121398800	Enhancers	Primary T cells fromperipheralblood	blood
28	chr12:121398000-121399200	Enhancers	Primary T cells from cord blood	blood
29	chr12:121398000-121400600	Enhancers	K562	blood
30	chr12:121398000-121400800	Enhancers	A549	lung
31	chr12:121398200-121398800	Enhancers	Rectal Mucosa Donor 31	rectum
32	chr12:121398200-121399600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr12:121398600-121398800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
34	chr12:121398600-121399200	Flanking Active TSS	HepG2	liver
35	chr12:121398600-121401000	Enhancers	Liver	Liver
36	chr12:121398600-121401400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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