Variant report

Variant	rs59558138
Chromosome Location	chr12:118746806-118746807
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:118746730..118750377-chr12:118808240..118815610,7	K562	blood:
2	chr12:118746730..118749165-chr12:118809879..118812657,2	K562	blood:

Variant related genes	Relation type
ENSG00000135090	Chromatin interaction
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]
rs10507288	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16948163	1.00[AMR][1000 genomes]
rs16948168	1.00[AMR][1000 genomes]
rs16948171	1.00[AMR][1000 genomes]
rs16948173	1.00[AMR][1000 genomes]
rs16948189	1.00[AMR][1000 genomes]
rs16948195	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16948199	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16948225	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16948241	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16948245	1.00[AMR][1000 genomes]
rs16948258	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16948259	1.00[AMR][1000 genomes]
rs16948262	1.00[AMR][1000 genomes]
rs17433259	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55965100	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56210304	1.00[AMR][1000 genomes]
rs56319724	1.00[AMR][1000 genomes]
rs56743940	1.00[AMR][1000 genomes]
rs56802741	1.00[AMR][1000 genomes]
rs56819745	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57170485	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57865918	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58340234	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58797246	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59036425	1.00[AMR][1000 genomes]
rs60160994	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60749048	1.00[AMR][1000 genomes]
rs60917706	1.00[AMR][1000 genomes]
rs7963735	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7963880	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7977168	1.00[AMR][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:61 , 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	chr12:118732800-118767600	Weak transcription	Primary T cells from cord blood	blood
3	chr12:118738200-118761800	Weak transcription	Fetal Lung	lung
4	chr12:118739200-118749400	Weak transcription	Brain Angular Gyrus	brain
5	chr12:118740400-118748800	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr12:118742000-118749600	Weak transcription	Brain Substantia Nigra	brain
7	chr12:118742200-118747800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr12:118744000-118747800	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr12:118744800-118747000	Enhancers	Primary B cells from peripheral blood	blood
10	chr12:118744800-118747000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
11	chr12:118745000-118748000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr12:118745400-118747200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr12:118745400-118749400	Weak transcription	Liver	Liver
14	chr12:118745400-118768000	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr12:118745600-118747600	Weak transcription	K562	blood
16	chr12:118745600-118747800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr12:118745600-118748200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr12:118745600-118750400	Weak transcription	A549	lung
19	chr12:118745600-118751800	Weak transcription	Primary B cells from cord blood	blood
20	chr12:118745800-118747400	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr12:118745800-118747400	Enhancers	HMEC	breast
22	chr12:118745800-118747800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr12:118745800-118749600	Weak transcription	Adipose Nuclei	Adipose
24	chr12:118745800-118749600	Weak transcription	HSMMtube	muscle
25	chr12:118745800-118766800	Weak transcription	Fetal Intestine Small	intestine
26	chr12:118745800-118767600	Weak transcription	Duodenum Mucosa	Duodenum
27	chr12:118746000-118747000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr12:118746000-118747200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr12:118746000-118747800	Enhancers	NHEK	skin
30	chr12:118746000-118748000	Enhancers	Primary T cells fromperipheralblood	blood
31	chr12:118746000-118748200	Enhancers	NH-A	brain
32	chr12:118746000-118749400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr12:118746000-118750600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr12:118746000-118783200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr12:118746200-118748000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr12:118746200-118749600	Weak transcription	Brain Hippocampus Middle	brain
37	chr12:118746200-118766800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
38	chr12:118746200-118785000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr12:118746400-118747200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
40	chr12:118746400-118747600	Enhancers	Monocytes-CD14+_RO01746	blood
41	chr12:118746400-118749600	Weak transcription	Primary neutrophils fromperipheralblood	blood
42	chr12:118746400-118749600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr12:118746400-118749600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr12:118746400-118754800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr12:118746600-118747600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr12:118746600-118747600	Enhancers	GM12878-XiMat	blood
47	chr12:118746600-118748800	Weak transcription	Primary hematopoietic stem cells	blood
48	chr12:118746600-118749400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr12:118746600-118749600	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr12:118746600-118749600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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