Variant report

Variant	rs12228917
Chromosome Location	chr12:32388023-32388024
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs11051861	0.81[EUR][1000 genomes]
rs11051864	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11051865	1.00[AFR][1000 genomes]
rs11051868	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11051869	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11051871	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11051873	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11051874	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11051878	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11051880	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11051882	1.00[CEU][hapmap];0.95[JPT][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11051883	1.00[CEU][hapmap];0.89[JPT][hapmap];0.90[EUR][1000 genomes]
rs11051889	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11051891	0.89[JPT][hapmap]
rs11051893	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11051894	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11051895	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11051902	0.93[CHB][hapmap];1.00[JPT][hapmap]
rs11051903	0.93[CHB][hapmap];1.00[JPT][hapmap]
rs11051905	0.93[CHB][hapmap];1.00[JPT][hapmap]
rs11051906	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11830737	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11831258	1.00[CEU][hapmap];0.94[JPT][hapmap];0.90[EUR][1000 genomes]
rs12228244	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12231775	0.95[JPT][hapmap]
rs12231791	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12231813	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs16919510	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs16919557	1.00[CEU][hapmap];0.95[JPT][hapmap];0.90[EUR][1000 genomes]
rs16919634	0.93[CHB][hapmap];1.00[JPT][hapmap]
rs57613647	0.90[EUR][1000 genomes]
rs58654691	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs60591339	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs60996971	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61286541	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6488040	0.94[JPT][hapmap]
rs7138319	0.95[JPT][hapmap]
rs7300174	0.94[JPT][hapmap]
rs7310041	0.93[JPT][hapmap]
rs73310734	0.85[ASN][1000 genomes]
rs73310736	0.85[ASN][1000 genomes]
rs74072028	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7958104	0.94[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3363806	chr12:31872264-32410283	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	esv3508621	chr12:31872654-32410593	Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	esv3508622	chr12:31872654-32410593	Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	nsv983498	chr12:32153446-32388092	Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS 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	10 gene(s)	inside rSNPs	diseases
5	nsv531960	chr12:32257285-32775277	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
6	esv2751096	chr12:32280340-32702784	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer 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
7	nsv558171	chr12:32287259-32559693	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Active TSS Bivalent/Poised 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	13 gene(s)	inside rSNPs	diseases
8	nsv832366	chr12:32328559-32511360	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv541454	chr12:32371080-32401245	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:32364200-32390000	Weak transcription	Brain Cingulate Gyrus	brain
2	chr12:32365000-32390000	Weak transcription	Brain Substantia Nigra	brain
3	chr12:32365000-32390200	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr12:32365600-32391200	Weak transcription	Fetal Brain Male	brain
5	chr12:32370200-32407800	Weak transcription	Hela-S3	cervix
6	chr12:32371000-32389800	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr12:32371000-32390000	Weak transcription	HSMMtube	muscle
8	chr12:32371000-32390200	Weak transcription	Stomach Smooth Muscle	stomach
9	chr12:32371200-32390000	Weak transcription	Aorta	Aorta
10	chr12:32371200-32390000	Weak transcription	Brain Germinal Matrix	brain
11	chr12:32371200-32390000	Weak transcription	Fetal Muscle Leg	muscle
12	chr12:32371200-32390000	Weak transcription	Left Ventricle	heart
13	chr12:32371200-32390000	Weak transcription	Thymus	Thymus
14	chr12:32371200-32390200	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr12:32371200-32393200	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr12:32371200-32393400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr12:32371200-32406800	Weak transcription	Primary T cells from cord blood	blood
18	chr12:32371600-32389400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr12:32371600-32389600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr12:32371600-32390000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr12:32371600-32390000	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr12:32371600-32390000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr12:32371600-32393000	Weak transcription	NH-A	brain
24	chr12:32371600-32393400	Weak transcription	NHDF-Ad	bronchial
25	chr12:32372000-32389400	Weak transcription	A549	lung
26	chr12:32372200-32389600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr12:32377400-32390000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr12:32377400-32390200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr12:32377600-32390200	Weak transcription	Primary hematopoietic stem cells	blood
30	chr12:32380000-32401000	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr12:32380600-32389400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr12:32380600-32390000	Weak transcription	Fetal Intestine Small	intestine
33	chr12:32380600-32393200	Weak transcription	Spleen	Spleen
34	chr12:32380800-32390200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr12:32381000-32389400	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr12:32381000-32389400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr12:32381000-32389400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr12:32381000-32389400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr12:32381000-32389400	Weak transcription	Dnd41	blood
40	chr12:32381000-32390000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr12:32381200-32390000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr12:32381200-32390000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr12:32381200-32390200	Weak transcription	Primary B cells from cord blood	blood
44	chr12:32381200-32392800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr12:32381600-32389400	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr12:32381600-32389600	Weak transcription	HSMM	muscle
47	chr12:32381600-32390200	Weak transcription	Osteobl	bone
48	chr12:32383000-32389200	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr12:32383400-32389400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr12:32383800-32390200	Weak transcription	H1 Cell Line	embryonic stem cell

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