Variant report

Variant	rs12296292
Chromosome Location	chr12:118745931-118745932
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:118744025..118746291-chr12:118766645..118768402,2	K562	blood:
2	chr12:118744293..118746408-chr12:118812184..118814602,2	K562	blood:
3	chr12:118727163..118729495-chr12:118743311..118746203,2	K562	blood:

Variant related genes	Relation type
ENSG00000111707	Chromatin interaction
ENSG00000270482	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs11068849	1.00[EUR][1000 genomes]
rs11068869	1.00[EUR][1000 genomes]
rs11068875	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11068877	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11068882	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11068890	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11068894	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11068895	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11068929	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11068950	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11834503	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11834916	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11835933	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12300544	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12305529	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12305849	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12305893	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12311104	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12314138	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12318403	1.00[EUR][1000 genomes]
rs12319261	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12319300	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12321640	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35214062	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6490174	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7132122	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7136936	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7137739	0.83[AMR][1000 genomes]
rs7306323	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7308927	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7313336	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7956203	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053785	chr12:118490955-118874194	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv1038224	chr12:118648415-118791388	Strong transcription Genic enhancers Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv1040061	chr12:118648415-118800437	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv1053417	chr12:118688969-118808530	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:118720800-118793600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr12:118726600-118746800	Weak transcription	Lung	lung
3	chr12:118732800-118767600	Weak transcription	Primary T cells from cord blood	blood
4	chr12:118736200-118746000	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr12:118738200-118761800	Weak transcription	Fetal Lung	lung
6	chr12:118739200-118749400	Weak transcription	Brain Angular Gyrus	brain
7	chr12:118740400-118748800	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr12:118742000-118749600	Weak transcription	Brain Substantia Nigra	brain
9	chr12:118742200-118747800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr12:118744000-118747800	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr12:118744400-118746000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr12:118744600-118746000	Flanking Active TSS	NHEK	skin
13	chr12:118744600-118746200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr12:118744800-118746000	Enhancers	Primary T helper naive cells from peripheral blood	blood
15	chr12:118744800-118746200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
16	chr12:118744800-118746200	Active TSS	GM12878-XiMat	blood
17	chr12:118744800-118746400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
18	chr12:118744800-118746800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
19	chr12:118744800-118747000	Enhancers	Primary B cells from peripheral blood	blood
20	chr12:118744800-118747000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
21	chr12:118745000-118746000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
22	chr12:118745000-118746000	Enhancers	Small Intestine	intestine
23	chr12:118745000-118746200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
24	chr12:118745000-118746200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
25	chr12:118745000-118746400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
26	chr12:118745000-118746600	Enhancers	Primary T helper cells fromperipheralblood	blood
27	chr12:118745000-118746600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
28	chr12:118745000-118748000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr12:118745200-118746000	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr12:118745200-118746000	Enhancers	H1 Cell Line	embryonic stem cell
31	chr12:118745200-118746000	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr12:118745200-118746200	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr12:118745200-118746200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
34	chr12:118745400-118746000	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr12:118745400-118746000	Enhancers	Primary hematopoietic stem cells	blood
36	chr12:118745400-118746200	Enhancers	iPS-20b Cell Line	embryonic stem cell
37	chr12:118745400-118747200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr12:118745400-118749400	Weak transcription	Liver	Liver
39	chr12:118745400-118768000	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr12:118745600-118746000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr12:118745600-118746000	Enhancers	Brain Cingulate Gyrus	brain
42	chr12:118745600-118746000	Weak transcription	Brain Hippocampus Middle	brain
43	chr12:118745600-118746400	Flanking Active TSS	Osteobl	bone
44	chr12:118745600-118746600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr12:118745600-118746600	Enhancers	NHDF-Ad	bronchial
46	chr12:118745600-118746600	Enhancers	NHLF	lung
47	chr12:118745600-118747600	Weak transcription	K562	blood
48	chr12:118745600-118747800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr12:118745600-118748200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr12:118745600-118750400	Weak transcription	A549	lung

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