Variant report

Variant	rs1152899
Chromosome Location	chr12:67669796-67669797
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:67668479..67670313-chr12:67704698..67706848,2	K562	blood:
2	chr12:67669758..67671716-chr12:67673656..67677648,4	MCF-7	breast:
3	chr12:67669370..67669946-chr12:67877255..67877836,2	MCF-7	breast:
4	chr12:67479380..67480285-chr12:67669243..67670001,2	MCF-7	breast:

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs1066392	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1066397	1.00[AMR][1000 genomes]
rs1082703	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1082704	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1082705	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1082706	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1082707	1.00[AFR][1000 genomes]
rs1082712	1.00[AFR][1000 genomes]
rs1082719	1.00[AFR][1000 genomes]
rs1143757	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1143946	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1143955	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1152891	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1152903	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1186260	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1252363	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1252409	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1252411	1.00[AMR][1000 genomes]
rs1252420	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1252433	1.00[AFR][1000 genomes]
rs1392588	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1392589	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1658782	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1697249	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1732541	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs710621	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs710799	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74099404	1.00[AMR][1000 genomes]
rs74099424	1.00[AMR][1000 genomes]
rs775311	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs775625	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs775627	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs775640	1.00[AMR][1000 genomes]
rs775642	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs775643	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs775649	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs775664	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs812882	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs812883	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv541524	chr12:67311057-67700349	Strong transcription Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv559212	chr12:67373549-67850925	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv1054111	chr12:67556780-67865542	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:67664600-67684000	Weak transcription	Fetal Muscle Trunk	muscle
2	chr12:67664800-67694400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr12:67664800-67699600	Weak transcription	Aorta	Aorta
4	chr12:67665200-67670600	Weak transcription	Brain Angular Gyrus	brain
5	chr12:67665200-67671200	Weak transcription	Right Atrium	heart
6	chr12:67665200-67671800	Weak transcription	Esophagus	oesophagus
7	chr12:67665200-67673000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
8	chr12:67665200-67675400	Enhancers	Primary T helper naive cells from peripheral blood	blood
9	chr12:67665200-67675800	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr12:67665200-67675800	Weak transcription	Placenta	Placenta
11	chr12:67665200-67675800	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr12:67665200-67676200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr12:67665200-67678400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr12:67665200-67684400	Weak transcription	Fetal Muscle Leg	muscle
15	chr12:67665200-67684600	Weak transcription	Thymus	Thymus
16	chr12:67665200-67690200	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr12:67665200-67699000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr12:67665400-67670200	Weak transcription	HSMMtube	muscle
19	chr12:67665400-67671200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr12:67665400-67687600	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr12:67665600-67669800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr12:67665600-67672000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
23	chr12:67665600-67672000	Enhancers	Duodenum Smooth Muscle	Duodenum
24	chr12:67665600-67673800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr12:67665600-67674600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
26	chr12:67666000-67670000	Weak transcription	Fetal Stomach	stomach
27	chr12:67666000-67670200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr12:67666000-67671000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr12:67666000-67671200	Weak transcription	Fetal Brain Female	brain
30	chr12:67666000-67688400	Weak transcription	Fetal Kidney	kidney
31	chr12:67666000-67701000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr12:67666400-67670800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr12:67666600-67669800	Enhancers	Small Intestine	intestine
34	chr12:67666600-67670600	Weak transcription	Fetal Brain Male	brain
35	chr12:67666600-67671800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr12:67666800-67670400	Weak transcription	Brain Substantia Nigra	brain
37	chr12:67666800-67676200	Weak transcription	Fetal Intestine Large	intestine
38	chr12:67667000-67670600	Strong transcription	Fetal Thymus	thymus
39	chr12:67667000-67671400	Enhancers	Colon Smooth Muscle	Colon
40	chr12:67667200-67672200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr12:67667400-67669800	Enhancers	Stomach Mucosa	stomach
42	chr12:67667400-67671400	Enhancers	Primary T helper cells fromperipheralblood	blood
43	chr12:67667600-67670000	Enhancers	HepG2	liver
44	chr12:67667600-67670800	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr12:67667600-67671800	Weak transcription	Fetal Intestine Small	intestine
46	chr12:67667600-67671800	Weak transcription	Pancreas	Pancrea
47	chr12:67667600-67682600	Weak transcription	Lung	lung
48	chr12:67667800-67669800	Enhancers	Fetal Lung	lung
49	chr12:67667800-67670000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
50	chr12:67667800-67670400	Enhancers	Skeletal Muscle Male	skeletal muscle

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