Variant report

Variant	rs2244318
Chromosome Location	chr4:147289431-147289432
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs2244316	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2244317	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2244321	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2244840	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2244850	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2245274	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2245282	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2248347	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2248348	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2248826	1.00[AMR][1000 genomes]
rs2255242	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2256112	1.00[AMR][1000 genomes]
rs2262884	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2460033	1.00[AMR][1000 genomes]
rs2630277	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2630278	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2630284	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2630292	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2630294	1.00[AMR][1000 genomes]
rs2630299	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2630300	1.00[AMR][1000 genomes]
rs2630306	1.00[AMR][1000 genomes]
rs2679121	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2679128	1.00[AMR][1000 genomes]
rs2679130	1.00[AMR][1000 genomes]
rs2679131	1.00[AMR][1000 genomes]
rs2679134	1.00[AMR][1000 genomes]
rs2679135	1.00[AMR][1000 genomes]
rs2679145	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2679149	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2679151	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2679153	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2679154	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2679160	1.00[AMR][1000 genomes]
rs4027057	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58494546	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60404214	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6816058	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72950672	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72950679	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72950681	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72950682	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72950684	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72950690	1.00[AMR][1000 genomes]
rs72950697	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72952504	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72952506	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72952508	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72952510	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72952511	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72952513	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72952515	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv461675	chr4:147116864-147768206	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv595651	chr4:147116864-147768206	Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	nsv1033640	chr4:147232217-147531881	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
4	nsv917053	chr4:147265436-147499653	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1023868	chr4:147265443-147531626	Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
6	nsv537293	chr4:147265443-147531626	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
7	esv3400231	chr4:147269396-147292066	Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:147276200-147292400	Weak transcription	Aorta	Aorta
2	chr4:147277400-147314200	Weak transcription	Left Ventricle	heart
3	chr4:147283000-147332200	Weak transcription	Primary B cells from cord blood	blood
4	chr4:147287200-147293400	Weak transcription	Pancreas	Pancrea
5	chr4:147287600-147292000	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr4:147288000-147290400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr4:147288000-147290400	Enhancers	Brain Angular Gyrus	brain
8	chr4:147288000-147292400	Enhancers	Fetal Heart	heart
9	chr4:147288200-147289800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr4:147288200-147289800	Enhancers	Brain Cingulate Gyrus	brain
11	chr4:147288200-147290400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr4:147288400-147289600	Enhancers	Brain Inferior Temporal Lobe	brain
13	chr4:147288400-147290000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr4:147288800-147289600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr4:147288800-147293800	Enhancers	HUVEC	blood vessel
16	chr4:147289000-147289600	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr4:147289000-147289600	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr4:147289000-147289600	Flanking Active TSS	Brain Anterior Caudate	brain
19	chr4:147289000-147289800	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr4:147289000-147289800	Enhancers	Brain Hippocampus Middle	brain
21	chr4:147289000-147289800	Enhancers	Colon Smooth Muscle	Colon
22	chr4:147289000-147290200	Enhancers	Primary hematopoietic stem cells	blood
23	chr4:147289000-147291800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr4:147289200-147289800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr4:147289200-147290200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr4:147289200-147290400	Enhancers	Ovary	ovary
27	chr4:147289400-147289600	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr4:147289400-147289600	Enhancers	Skeletal Muscle Female	skeletal muscle
29	chr4:147289400-147290000	Enhancers	Primary hematopoietic stem cells short term culture	blood
30	chr4:147289400-147290000	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
31	chr4:147289400-147290200	Enhancers	Brain Substantia Nigra	brain
32	chr4:147289400-147290400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr4:147289400-147291800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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