Variant report

Variant	rs11051036
Chromosome Location	chr12:30852674-30852675
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:30848462..30850744-chr12:30852619..30855375,2	K562	blood:

Variant related genes	Relation type
ENSG00000133704	Chromatin interaction

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs10431223	0.84[EUR][1000 genomes]
rs11050960	0.84[EUR][1000 genomes]
rs11050962	0.84[EUR][1000 genomes]
rs11050963	0.84[EUR][1000 genomes]
rs11050964	0.84[EUR][1000 genomes]
rs11050965	0.84[EUR][1000 genomes]
rs11050975	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11050976	0.84[EUR][1000 genomes]
rs11050978	0.84[EUR][1000 genomes]
rs11050979	0.84[EUR][1000 genomes]
rs11050980	0.84[EUR][1000 genomes]
rs11050981	0.84[EUR][1000 genomes]
rs11050982	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11050995	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11050996	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11050997	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11050998	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11050999	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11051000	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11051001	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11051004	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11051011	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11051014	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11051016	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11051017	0.96[ASN][1000 genomes]
rs11051021	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11051024	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11051025	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11051031	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11051032	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11051039	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11051040	1.00[CHB][hapmap];0.91[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11051043	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11051057	1.00[AMR][1000 genomes]
rs11051060	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11051064	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11051067	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11051074	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11534760	0.84[EUR][1000 genomes]
rs11561156	0.84[EUR][1000 genomes]
rs1157125	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11613738	0.83[CHB][hapmap];1.00[JPT][hapmap]
rs12228212	0.84[EUR][1000 genomes]
rs12229358	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12229986	1.00[CHB][hapmap];0.89[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12230006	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12230490	0.84[EUR][1000 genomes]
rs12231670	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16906574	0.84[EUR][1000 genomes]
rs16906582	0.84[EUR][1000 genomes]
rs16906596	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16906601	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16906606	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16906713	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16906758	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16916147	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2101288	1.00[AMR][1000 genomes]
rs2114900	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3850958	0.84[EUR][1000 genomes]
rs3850959	0.81[ASN][1000 genomes]
rs3888018	0.82[JPT][hapmap]
rs3889761	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs57735299	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs60712960	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7970293	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7977562	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3343291	chr12:30455597-30992837	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv832361	chr12:30794030-30997241	Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv949148	chr12:30800040-31131712	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:30849200-30881600	Weak transcription	Right Ventricle	heart
2	chr12:30849400-30853800	Weak transcription	HSMMtube	muscle
3	chr12:30849400-30854200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr12:30849400-30860600	Weak transcription	NH-A	brain
5	chr12:30849400-30861000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr12:30849400-30862800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr12:30849400-30866200	Weak transcription	Fetal Brain Male	brain
8	chr12:30849600-30853000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr12:30849600-30853400	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr12:30849600-30853600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr12:30849600-30853600	Weak transcription	Brain Hippocampus Middle	brain
12	chr12:30849600-30853600	Weak transcription	Fetal Muscle Leg	muscle
13	chr12:30849600-30853600	Weak transcription	NHDF-Ad	bronchial
14	chr12:30849600-30853800	Weak transcription	Brain Angular Gyrus	brain
15	chr12:30849600-30861200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr12:30849600-30861800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr12:30849600-30861800	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr12:30849600-30861800	Weak transcription	NHEK	skin
19	chr12:30849600-30862000	Weak transcription	Brain Germinal Matrix	brain
20	chr12:30849600-30862000	Weak transcription	HMEC	breast
21	chr12:30849600-30862200	Weak transcription	Brain Anterior Caudate	brain
22	chr12:30849600-30862200	Weak transcription	Stomach Smooth Muscle	stomach
23	chr12:30849600-30862400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr12:30849600-30862600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr12:30849600-30881200	Weak transcription	Psoas Muscle	Psoas
26	chr12:30849600-30881600	Weak transcription	Aorta	Aorta
27	chr12:30849800-30853000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr12:30849800-30853400	Weak transcription	Brain Cingulate Gyrus	brain
29	chr12:30849800-30853400	Weak transcription	HSMM	muscle
30	chr12:30849800-30853600	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr12:30849800-30861800	Weak transcription	Primary T cells fromperipheralblood	blood
32	chr12:30849800-30861800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr12:30849800-30862000	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr12:30849800-30862000	Weak transcription	Primary T helper cells fromperipheralblood	blood
35	chr12:30849800-30862000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr12:30849800-30862200	Weak transcription	Primary T helper cells PMA-I stimulated	--
37	chr12:30849800-30862400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr12:30849800-30862400	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr12:30849800-30862400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr12:30849800-30862400	Weak transcription	Lung	lung
41	chr12:30849800-30862600	Weak transcription	Ovary	ovary
42	chr12:30849800-30862800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr12:30849800-30862800	Weak transcription	Brain Substantia Nigra	brain
44	chr12:30849800-30862800	Weak transcription	Left Ventricle	heart
45	chr12:30849800-30862800	Weak transcription	Pancreas	Pancrea
46	chr12:30849800-30867000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr12:30850000-30860800	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr12:30850200-30861800	Weak transcription	Dnd41	blood
49	chr12:30851800-30853200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr12:30852600-30853400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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