Variant report

Variant	rs2133584
Chromosome Location	chr12:25019113-25019114
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 58 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10160847	0.86[ASN][1000 genomes]
rs10466800	0.81[EUR][1000 genomes]
rs10743523	0.81[EUR][1000 genomes]
rs10771134	0.91[ASN][1000 genomes]
rs10842417	0.86[ASN][1000 genomes]
rs10842420	0.91[ASN][1000 genomes]
rs11047686	0.92[AFR][1000 genomes]
rs11613673	0.83[ASN][1000 genomes]
rs11613710	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11615863	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12296315	0.92[AFR][1000 genomes]
rs12301149	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1392195	0.89[AFR][1000 genomes]
rs16928089	0.81[EUR][1000 genomes]
rs2133582	0.92[AFR][1000 genomes]
rs2133583	0.92[AFR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2220271	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2353478	0.86[ASN][1000 genomes]
rs3736211	0.81[EUR][1000 genomes]
rs4963808	0.81[EUR][1000 genomes]
rs4963814	0.86[ASN][1000 genomes]
rs59258370	0.82[AFR][1000 genomes]
rs73061805	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73061812	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73061817	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73079552	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73079568	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73079570	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73079576	0.91[AFR][1000 genomes]
rs7961688	0.85[ASN][1000 genomes]
rs7962203	0.85[ASN][1000 genomes]
rs937503	0.92[AFR][1000 genomes]
rs954199	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2422312	chr12:24519392-25221686	Weak transcription Enhancers Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv898920	chr12:24648863-25147192	Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv469169	chr12:24692383-25357680	Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
4	nsv557775	chr12:24692383-25357680	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	nsv932477	chr12:24705151-25346677	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
6	nsv1053309	chr12:24770995-25078227	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
7	nsv1067577	chr12:24791283-25346677	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
8	nsv529514	chr12:24791283-25346677	Enhancers Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
9	nsv1041221	chr12:24880443-25213168	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
10	nsv541425	chr12:24880443-25213168	Bivalent/Poised TSS Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
11	nsv469170	chr12:24891175-25204353	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
12	nsv557776	chr12:24891175-25204353	Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
13	nsv557777	chr12:24891175-25205241	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
14	nsv469173	chr12:24891175-25207653	Enhancers Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
15	nsv557778	chr12:24891175-25207653	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
16	nsv1045302	chr12:24921100-25078227	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
17	nsv1049138	chr12:24921100-25164524	Enhancers Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
18	nsv1051319	chr12:24921100-25238936	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
19	nsv1054863	chr12:24941350-25078227	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
20	nsv541426	chr12:24941350-25078227	Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
21	nsv1051968	chr12:24941350-25138118	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
22	nsv541427	chr12:24941350-25138118	Active TSS Genic enhancers Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
23	nsv1037288	chr12:24941350-25238936	Enhancers Genic enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
24	nsv541428	chr12:24941350-25238936	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
25	nsv1041218	chr12:24972019-25304356	Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2133584	BCAT1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:24971000-25054800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr12:24992000-25053000	Weak transcription	Fetal Stomach	stomach
3	chr12:24992400-25033200	Weak transcription	Fetal Brain Male	brain
4	chr12:24992600-25053400	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr12:25002600-25022200	Weak transcription	Lung	lung
6	chr12:25002800-25019200	Weak transcription	Fetal Muscle Trunk	muscle
7	chr12:25008200-25030200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr12:25011200-25026600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr12:25014000-25028000	Weak transcription	Brain Germinal Matrix	brain
10	chr12:25014400-25042800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr12:25015600-25025400	Weak transcription	HepG2	liver
12	chr12:25015600-25030200	Weak transcription	Ovary	ovary
13	chr12:25015600-25055200	Weak transcription	Aorta	Aorta
14	chr12:25016800-25023400	Weak transcription	Fetal Muscle Leg	muscle
15	chr12:25017000-25019200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr12:25017600-25047200	Weak transcription	Fetal Kidney	kidney
17	chr12:25018000-25019800	Weak transcription	Fetal Lung	lung
18	chr12:25018000-25024000	Weak transcription	HSMMtube	muscle
19	chr12:25018000-25025200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr12:25018000-25027800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr12:25018000-25032200	Weak transcription	Placenta	Placenta
22	chr12:25018000-25032400	Weak transcription	Pancreas	Pancrea
23	chr12:25018000-25043600	Weak transcription	Fetal Thymus	thymus
24	chr12:25018000-25044200	Weak transcription	NHLF	lung
25	chr12:25018200-25019800	Weak transcription	HUVEC	blood vessel
26	chr12:25018200-25020000	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr12:25018200-25020400	Weak transcription	K562	blood
28	chr12:25018200-25022000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr12:25018200-25041800	Weak transcription	NHEK	skin
30	chr12:25018400-25019200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr12:25018400-25019400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr12:25018400-25019400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr12:25018400-25019400	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr12:25018400-25019600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr12:25018400-25019800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr12:25018400-25019800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr12:25018400-25019800	Weak transcription	Primary hematopoietic stem cells	blood
38	chr12:25018400-25019800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr12:25018400-25020000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr12:25018400-25020000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr12:25018400-25020200	Weak transcription	GM12878-XiMat	blood
42	chr12:25018400-25020200	Weak transcription	HSMM	muscle
43	chr12:25018400-25020600	Strong transcription	H1 Cell Line	embryonic stem cell
44	chr12:25018400-25022200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr12:25018400-25022200	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr12:25018400-25023400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr12:25018400-25023600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr12:25018400-25025200	Weak transcription	NH-A	brain
49	chr12:25018400-25030000	Weak transcription	Osteobl	bone
50	chr12:25018400-25054600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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