Variant report

Variant	rs11054615
Chromosome Location	chr12:12171755-12171756
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	chr12:12170098..12171926-chr12:12175090..12178021,2	K562	blood:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10129025	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs11054618	1.00[AFR][1000 genomes]
rs12303760	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12313176	0.82[AFR][1000 genomes]
rs12320048	0.83[AMR][1000 genomes]
rs12320086	1.00[AFR][1000 genomes]
rs7296862	0.89[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949003	chr12:11938229-12618690	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv898804	chr12:12058411-12202173	Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:12164600-12172600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr12:12164800-12179800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr12:12166600-12171800	Enhancers	Fetal Muscle Leg	muscle
4	chr12:12167800-12171800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr12:12168000-12172600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr12:12168200-12171800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr12:12168800-12172200	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr12:12169200-12171800	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr12:12169200-12171800	Enhancers	Fetal Muscle Trunk	muscle
10	chr12:12169200-12172000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr12:12169200-12172200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr12:12169400-12171800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr12:12169400-12171800	Enhancers	Left Ventricle	heart
14	chr12:12169400-12171800	Enhancers	Right Ventricle	heart
15	chr12:12169400-12171800	Enhancers	HMEC	breast
16	chr12:12169400-12172200	Enhancers	Fetal Heart	heart
17	chr12:12169600-12171800	Enhancers	NH-A	brain
18	chr12:12170000-12172200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr12:12170000-12176800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr12:12170200-12171800	Enhancers	Pancreas	Pancrea
21	chr12:12170400-12175600	Weak transcription	Primary T helper cells fromperipheralblood	blood
22	chr12:12170600-12171800	Enhancers	Adipose Nuclei	Adipose
23	chr12:12170600-12173600	Weak transcription	Primary T helper cells PMA-I stimulated	--
24	chr12:12170600-12176400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr12:12170600-12177600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr12:12170600-12177800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr12:12170800-12176400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr12:12170800-12179200	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr12:12171000-12171800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr12:12171000-12171800	Enhancers	Brain Cingulate Gyrus	brain
31	chr12:12171000-12173400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chr12:12171000-12173600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr12:12171200-12171800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr12:12171200-12171800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr12:12171200-12171800	Enhancers	Brain Angular Gyrus	brain
36	chr12:12171200-12171800	Enhancers	Brain Inferior Temporal Lobe	brain
37	chr12:12171200-12171800	Enhancers	Esophagus	oesophagus
38	chr12:12171200-12171800	Enhancers	Right Atrium	heart
39	chr12:12171200-12171800	Enhancers	HSMM	muscle
40	chr12:12171200-12172000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr12:12171200-12176400	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr12:12171200-12185400	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr12:12171400-12171800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
44	chr12:12171400-12171800	Flanking Active TSS	Brain Substantia Nigra	brain
45	chr12:12171400-12174600	Weak transcription	GM12878-XiMat	blood
46	chr12:12171400-12175400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr12:12171400-12175400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr12:12171400-12185200	Weak transcription	Spleen	Spleen
49	chr12:12171600-12171800	Enhancers	Gastric	stomach
50	chr12:12171600-12171800	Enhancers	HSMMtube	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links