Variant report

Variant	rs4237936
Chromosome Location	chr12:12169221-12169222
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs12315516	0.84[AMR][1000 genomes]
rs12316914	0.83[AMR][1000 genomes]
rs1871286	0.86[AMR][1000 genomes]
rs2127114	0.81[AMR][1000 genomes]
rs4763743	0.83[AMR][1000 genomes]
rs4763744	0.84[AMR][1000 genomes]
rs4763748	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4763749	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6488476	0.84[AMR][1000 genomes]
rs6488482	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6488483	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7303792	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7308547	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7312970	0.82[AMR][1000 genomes]
rs7954303	0.84[AMR][1000 genomes]
rs7958862	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7962986	0.83[AMR][1000 genomes]
rs7965081	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7968948	0.84[AMR][1000 genomes]
rs7968953	0.84[AMR][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:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:12163600-12171600	Weak transcription	Gastric	stomach
2	chr12:12163800-12169600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr12:12163800-12171400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr12:12164000-12171400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr12:12164200-12169800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr12:12164200-12171600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr12:12164400-12169400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr12:12164400-12169400	Weak transcription	Fetal Heart	heart
9	chr12:12164400-12169600	Weak transcription	Brain Anterior Caudate	brain
10	chr12:12164400-12171000	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr12:12164400-12171200	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr12:12164600-12169400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr12:12164600-12169400	Weak transcription	HMEC	breast
14	chr12:12164600-12169600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr12:12164600-12169600	Weak transcription	NH-A	brain
16	chr12:12164600-12171200	Weak transcription	Right Atrium	heart
17	chr12:12164600-12172600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr12:12164800-12169400	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr12:12164800-12169400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr12:12164800-12169400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr12:12164800-12169400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr12:12164800-12169400	Weak transcription	Spleen	Spleen
23	chr12:12164800-12169600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr12:12164800-12169800	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr12:12164800-12170200	Weak transcription	Placenta	Placenta
26	chr12:12164800-12170400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr12:12164800-12179800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr12:12165200-12169400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr12:12165200-12169600	Weak transcription	Primary T cells from cord blood	blood
30	chr12:12165400-12169400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr12:12165400-12169600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr12:12165400-12170600	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr12:12165600-12169400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr12:12165800-12169800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr12:12166600-12171800	Enhancers	Fetal Muscle Leg	muscle
36	chr12:12166800-12171600	Enhancers	Fetal Thymus	thymus
37	chr12:12167000-12169400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
38	chr12:12167400-12170600	Enhancers	Primary T cells fromperipheralblood	blood
39	chr12:12167800-12170800	Enhancers	Dnd41	blood
40	chr12:12167800-12171400	Enhancers	Primary hematopoietic stem cells	blood
41	chr12:12167800-12171800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr12:12168000-12170600	Enhancers	Primary T helper cells PMA-I stimulated	--
43	chr12:12168000-12170800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
44	chr12:12168000-12171400	Enhancers	GM12878-XiMat	blood
45	chr12:12168000-12172600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr12:12168200-12170000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
47	chr12:12168200-12171800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr12:12168400-12170000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr12:12168400-12171400	Enhancers	Skeletal Muscle Female	skeletal muscle
50	chr12:12168600-12170600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood

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