Variant report

Variant	rs4930936
Chromosome Location	chr12:30853980-30853981
allele	C/T
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:
2	chr12:30853082..30854852-chr12:30907292..30909990,2	K562	blood:

Variant related genes	Relation type
ENSG00000110888	Chromatin interaction
ENSG00000246331	Chromatin interaction
ENSG00000133704	Chromatin interaction

Extended variants
information (count: 85 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:82)

rs_ID	r²[population]
rs10219701	0.81[ASN][1000 genomes]
rs1054426	0.83[ASN][1000 genomes]
rs10734790	0.81[ASN][1000 genomes]
rs10734791	0.95[ASN][1000 genomes]
rs10743726	0.81[ASN][1000 genomes]
rs10743727	0.81[ASN][1000 genomes]
rs10743728	0.81[ASN][1000 genomes]
rs10743733	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10743734	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10771750	0.81[ASN][1000 genomes]
rs10771751	0.81[ASN][1000 genomes]
rs10771752	0.81[ASN][1000 genomes]
rs10771753	0.81[ASN][1000 genomes]
rs10771754	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10771755	0.80[ASN][1000 genomes]
rs10771758	0.91[ASN][1000 genomes]
rs10771759	0.95[ASN][1000 genomes]
rs10771764	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10771769	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10843802	0.80[ASN][1000 genomes]
rs10843806	0.83[ASN][1000 genomes]
rs10843807	0.83[ASN][1000 genomes]
rs10843808	0.83[ASN][1000 genomes]
rs10843809	0.83[ASN][1000 genomes]
rs10843810	0.82[ASN][1000 genomes]
rs10843811	0.83[ASN][1000 genomes]
rs10843812	0.83[ASN][1000 genomes]
rs11051013	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11051052	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12370429	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12579337	0.83[ASN][1000 genomes]
rs13656	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1371049	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1371053	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1545175	0.86[ASN][1000 genomes]
rs1866416	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2043844	0.80[ASN][1000 genomes]
rs2043846	0.81[ASN][1000 genomes]
rs2099661	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2289301	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2304626	0.83[ASN][1000 genomes]
rs2304630	0.99[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2352210	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2352217	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs33132	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3782685	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3816169	0.83[ASN][1000 genomes]
rs3825307	0.84[ASN][1000 genomes]
rs3910561	0.81[ASN][1000 genomes]
rs3910562	0.81[ASN][1000 genomes]
rs3910563	0.81[ASN][1000 genomes]
rs3910564	0.81[ASN][1000 genomes]
rs4143103	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4930935	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4931356	0.86[AFR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs60452057	0.82[ASN][1000 genomes]
rs6487925	0.81[ASN][1000 genomes]
rs6487927	0.84[ASN][1000 genomes]
rs6487930	0.81[ASN][1000 genomes]
rs6487932	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6487933	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7136079	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs718368	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7297455	0.94[ASN][1000 genomes]
rs7298007	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7298180	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7300234	0.81[ASN][1000 genomes]
rs7303626	0.81[ASN][1000 genomes]
rs7304879	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7304976	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7305853	0.81[ASN][1000 genomes]
rs7311651	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7315693	0.83[ASN][1000 genomes]
rs7315932	0.83[ASN][1000 genomes]
rs794152	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7955574	0.83[ASN][1000 genomes]
rs7963494	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7968343	0.83[ASN][1000 genomes]
rs7968587	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7978343	0.83[ASN][1000 genomes]
rs7978936	0.83[ASN][1000 genomes]
rs9300199	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4930936	IPO8	cis	Artery Tibial	GTEx
rs4930936	IPO8	cis	multi-tissue	Pritchard

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:30849200-30881600	Weak transcription	Right Ventricle	heart
2	chr12:30849400-30854200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr12:30849400-30860600	Weak transcription	NH-A	brain
4	chr12:30849400-30861000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr12:30849400-30862800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr12:30849400-30866200	Weak transcription	Fetal Brain Male	brain
7	chr12:30849600-30861200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr12:30849600-30861800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr12:30849600-30861800	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr12:30849600-30861800	Weak transcription	NHEK	skin
11	chr12:30849600-30862000	Weak transcription	Brain Germinal Matrix	brain
12	chr12:30849600-30862000	Weak transcription	HMEC	breast
13	chr12:30849600-30862200	Weak transcription	Brain Anterior Caudate	brain
14	chr12:30849600-30862200	Weak transcription	Stomach Smooth Muscle	stomach
15	chr12:30849600-30862400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr12:30849600-30862600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr12:30849600-30881200	Weak transcription	Psoas Muscle	Psoas
18	chr12:30849600-30881600	Weak transcription	Aorta	Aorta
19	chr12:30849800-30861800	Weak transcription	Primary T cells fromperipheralblood	blood
20	chr12:30849800-30861800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr12:30849800-30862000	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr12:30849800-30862000	Weak transcription	Primary T helper cells fromperipheralblood	blood
23	chr12:30849800-30862000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr12:30849800-30862200	Weak transcription	Primary T helper cells PMA-I stimulated	--
25	chr12:30849800-30862400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr12:30849800-30862400	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr12:30849800-30862400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr12:30849800-30862400	Weak transcription	Lung	lung
29	chr12:30849800-30862600	Weak transcription	Ovary	ovary
30	chr12:30849800-30862800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr12:30849800-30862800	Weak transcription	Brain Substantia Nigra	brain
32	chr12:30849800-30862800	Weak transcription	Left Ventricle	heart
33	chr12:30849800-30862800	Weak transcription	Pancreas	Pancrea
34	chr12:30849800-30867000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr12:30850000-30860800	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr12:30850200-30861800	Weak transcription	Dnd41	blood
37	chr12:30852600-30854200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr12:30852600-30854400	Enhancers	Osteobl	bone
39	chr12:30853000-30854000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
40	chr12:30853000-30854400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr12:30853400-30854200	Enhancers	Brain Cingulate Gyrus	brain
42	chr12:30853400-30854200	Enhancers	HSMM	muscle
43	chr12:30853400-30854400	Enhancers	Muscle Satellite Cultured Cells	--
44	chr12:30853400-30862800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr12:30853600-30854000	Enhancers	Brain Inferior Temporal Lobe	brain
46	chr12:30853600-30854200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr12:30853600-30854200	Enhancers	Brain Hippocampus Middle	brain
48	chr12:30853600-30854600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr12:30853600-30856200	Enhancers	Fetal Muscle Leg	muscle
50	chr12:30853600-30862600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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