Variant report

Variant	rs11934309
Chromosome Location	chr4:120045740-120045741
allele	C/T
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:50)

rs_ID	r²[population]
rs10002207	0.89[EUR][1000 genomes]
rs10007353	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10008206	0.89[EUR][1000 genomes]
rs10011628	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10011815	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10017227	0.89[EUR][1000 genomes]
rs10020251	0.89[EUR][1000 genomes]
rs10027388	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10027543	0.89[EUR][1000 genomes]
rs10027649	0.89[EUR][1000 genomes]
rs10027729	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10033458	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11934185	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11935277	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11935490	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11936641	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11943221	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13434885	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13435642	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17050012	0.89[EUR][1000 genomes]
rs17050027	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17050032	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17839092	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2389726	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28404363	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28429127	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28477374	0.89[EUR][1000 genomes]
rs28480491	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28507886	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28526325	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28648074	0.82[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs28682357	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28687038	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28691747	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28716309	0.89[EUR][1000 genomes]
rs28734069	0.89[EUR][1000 genomes]
rs41490144	1.00[MEX][hapmap]
rs4370120	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4608795	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72673713	0.89[EUR][1000 genomes]
rs72673721	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72673726	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72673777	0.89[EUR][1000 genomes]
rs72673794	0.89[EUR][1000 genomes]
rs72676009	0.89[EUR][1000 genomes]
rs7666114	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7666154	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7666292	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9307467	1.00[CEU][hapmap];1.00[GIH][hapmap]
rs9996541	1.00[CEU][hapmap];0.89[EUR][1000 genomes]

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	nsv916641	chr4:119780023-120777320	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv948802	chr4:119844269-120208926	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
3	nsv1007214	chr4:120007913-120112460	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1008115	chr4:120007913-120143849	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
5	nsv1003827	chr4:120008227-120112460	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv522386	chr4:120009147-120115379	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv1012868	chr4:120014630-120464880	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
8	nsv537232	chr4:120014630-120464880	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
9	nsv1007619	chr4:120014898-120112460	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:120037000-120046600	Weak transcription	Right Ventricle	heart
2	chr4:120040600-120045800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr4:120041200-120052600	Weak transcription	Left Ventricle	heart
4	chr4:120043400-120045800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr4:120044400-120045800	Enhancers	HSMM	muscle
6	chr4:120044600-120045800	Enhancers	Muscle Satellite Cultured Cells	--
7	chr4:120044600-120045800	Enhancers	HSMMtube	muscle
8	chr4:120044800-120045800	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr4:120044800-120045800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr4:120044800-120046000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr4:120044800-120046000	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr4:120044800-120046000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
13	chr4:120044800-120046000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr4:120044800-120046000	Enhancers	Brain Hippocampus Middle	brain
15	chr4:120044800-120046200	Enhancers	Primary hematopoietic stem cells	blood
16	chr4:120044800-120046600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr4:120045000-120045800	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr4:120045000-120045800	Enhancers	NHDF-Ad	bronchial
19	chr4:120045000-120046200	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr4:120045000-120047800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr4:120045200-120045800	Enhancers	Hela-S3	cervix
22	chr4:120045200-120046000	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr4:120045200-120046000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr4:120045200-120059200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr4:120045400-120045800	Enhancers	Brain Germinal Matrix	brain
26	chr4:120045400-120046000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
27	chr4:120045400-120046000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr4:120045400-120046000	Enhancers	Osteobl	bone
29	chr4:120045400-120046400	Weak transcription	Fetal Heart	heart
30	chr4:120045600-120045800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr4:120045600-120045800	Enhancers	Adipose Nuclei	Adipose
32	chr4:120045600-120046000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
33	chr4:120045600-120046000	Enhancers	Primary T helper cells PMA-I stimulated	--
34	chr4:120045600-120046000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
35	chr4:120045600-120046200	Enhancers	HUVEC	blood vessel
36	chr4:120045600-120051400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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