Variant report

Variant	rs2448032
Chromosome Location	chr12:12254075-12254076
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10845483	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11054693	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12824766	0.86[EUR][1000 genomes]
rs2416991	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4763781	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4763782	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4763784	0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 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	esv3499851	chr12:12252135-12255633	Enhancers Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
3	esv3482974	chr12:12252482-12254898	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
4	esv7410	chr12:12252594-12254825	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
5	esv3482963	chr12:12252692-12254755	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
6	esv3499854	chr12:12252739-12254727	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
7	esv3499855	chr12:12252741-12254689	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
8	esv3482996	chr12:12252748-12254721	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
9	esv3483007	chr12:12252752-12254716	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
10	esv3482985	chr12:12252765-12254674	Strong transcription Weak transcription Genic enhancers Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
11	esv3499856	chr12:12252770-12254689	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
12	esv3499852	chr12:12252770-12254696	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
13	esv3483018	chr12:12252828-12254647	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
14	esv19778	chr12:12252922-12254685	Weak transcription Strong transcription Genic enhancers	n/a	n/a	inside rSNPs	diseases
15	nsv976579	chr12:12253001-12266723	Strong transcription Weak transcription ZNF genes & repeats Active TSS Enhancers	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
16	esv3495485	chr12:12253315-12254347	Weak transcription Strong transcription	n/a	n/a	inside rSNPs	diseases
17	esv3495496	chr12:12253315-12254347	Weak transcription Strong transcription	n/a	n/a	inside rSNPs	diseases
18	nsv515729	chr12:12253591-12254476	Weak transcription Strong transcription	n/a	n/a	inside rSNPs	diseases
19	nsv528912	chr12:12253591-12266041	Weak transcription ZNF genes & repeats Strong transcription Enhancers Active TSS	TF binding region CpG island Chromatin interactive region miRNA	2 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	chr12:12225000-12255000	Weak transcription	Small Intestine	intestine
2	chr12:12232800-12257000	Weak transcription	HSMMtube	muscle
3	chr12:12234800-12259600	Weak transcription	Aorta	Aorta
4	chr12:12235400-12260200	Weak transcription	Gastric	stomach
5	chr12:12235400-12260800	Weak transcription	Stomach Smooth Muscle	stomach
6	chr12:12235400-12278800	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr12:12237400-12259800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr12:12240400-12254200	Weak transcription	Stomach Mucosa	stomach
9	chr12:12240600-12256800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr12:12241000-12260600	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr12:12241000-12273400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr12:12241200-12256800	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr12:12241200-12261000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr12:12241400-12272600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr12:12241800-12260400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr12:12242000-12257000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr12:12245600-12257000	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr12:12245600-12260400	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr12:12245600-12260400	Weak transcription	Fetal Brain Female	brain
20	chr12:12245600-12260600	Weak transcription	Psoas Muscle	Psoas
21	chr12:12245800-12255600	Weak transcription	Brain Substantia Nigra	brain
22	chr12:12245800-12256600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr12:12245800-12256600	Weak transcription	Lung	lung
24	chr12:12245800-12260400	Weak transcription	Brain Germinal Matrix	brain
25	chr12:12245800-12260400	Weak transcription	Fetal Muscle Trunk	muscle
26	chr12:12245800-12260600	Weak transcription	Brain Hippocampus Middle	brain
27	chr12:12245800-12263800	Weak transcription	Pancreas	Pancrea
28	chr12:12245800-12266200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr12:12246000-12254400	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr12:12246000-12256600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr12:12246200-12256000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr12:12246200-12260400	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr12:12246200-12260400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr12:12246400-12257000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr12:12246400-12272000	Weak transcription	Osteobl	bone
36	chr12:12247600-12261400	Weak transcription	Colon Smooth Muscle	Colon
37	chr12:12248200-12271800	Weak transcription	Fetal Kidney	kidney
38	chr12:12248400-12260800	Weak transcription	Hela-S3	cervix
39	chr12:12248400-12261000	Weak transcription	NH-A	brain
40	chr12:12248800-12256600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr12:12248800-12256600	Weak transcription	Fetal Stomach	stomach
42	chr12:12249200-12256000	Weak transcription	Fetal Intestine Small	intestine
43	chr12:12249400-12256600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr12:12250000-12261400	Weak transcription	Primary T cells from cord blood	blood
45	chr12:12250200-12254400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr12:12250800-12260600	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr12:12251000-12254800	Strong transcription	Liver	Liver
48	chr12:12251000-12254800	Strong transcription	Fetal Intestine Large	intestine
49	chr12:12251000-12254800	Strong transcription	Rectal Mucosa Donor 31	rectum
50	chr12:12251000-12256600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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