Variant report

Variant	rs2112984
Chromosome Location	chr5:61939761-61939762
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10058598	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs10060044	0.94[EUR][1000 genomes]
rs10060243	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10069594	0.96[CEU][hapmap];0.93[EUR][1000 genomes]
rs10069988	0.96[CEU][hapmap]
rs10079618	0.94[EUR][1000 genomes]
rs101091	1.00[CEU][hapmap]
rs12517326	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs1301064	0.96[CEU][hapmap]
rs1301065	0.96[CEU][hapmap]
rs1477358	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs2112983	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs247231	0.96[CEU][hapmap]
rs247237	0.96[CEU][hapmap]
rs247479	0.96[CEU][hapmap]
rs26635	0.96[CEU][hapmap]
rs26642	0.96[CEU][hapmap]
rs27448	0.96[CEU][hapmap]
rs27931	1.00[CEU][hapmap]
rs32163	0.82[CEU][hapmap]
rs35119	0.96[CEU][hapmap]
rs35202928	0.94[EUR][1000 genomes]
rs4700494	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs57199871	0.94[EUR][1000 genomes]
rs767159	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs7717143	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs7719851	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9632387	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1020255	chr5:61451792-62031365	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers 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	35 gene(s)	inside rSNPs	diseases
2	nsv1027539	chr5:61457762-62000008	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv881731	chr5:61794164-61941043	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
4	nsv881732	chr5:61811970-62063366	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
5	esv2763458	chr5:61852234-62157166	ZNF genes & repeats Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
6	nsv1022817	chr5:61853619-62149259	Strong transcription Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
7	nsv948334	chr5:61891622-62197219	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
8	nsv4858	chr5:61922306-61966961	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA miRNA target site	n/a	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:61864800-61945800	Weak transcription	HSMMtube	muscle
2	chr5:61886800-61941200	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr5:61893000-61943200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr5:61906000-61946000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr5:61911000-61944200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr5:61911200-61941800	Weak transcription	Fetal Intestine Small	intestine
7	chr5:61913400-61943000	Weak transcription	Hela-S3	cervix
8	chr5:61917200-61945800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr5:61920400-61942600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr5:61923000-61945400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr5:61923400-61941400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr5:61924000-61944400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr5:61924200-61949200	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr5:61924200-61950600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr5:61925600-61944000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr5:61925600-61944800	Weak transcription	Dnd41	blood
17	chr5:61925800-61941800	Weak transcription	A549	lung
18	chr5:61925800-61943200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr5:61925800-61943800	Weak transcription	Primary T cells from cord blood	blood
20	chr5:61925800-61945200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr5:61925800-61949200	Weak transcription	Left Ventricle	heart
22	chr5:61926800-61945400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr5:61927400-61943400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr5:61933200-61949400	Weak transcription	Adipose Nuclei	Adipose
25	chr5:61936600-61944000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr5:61938200-61940400	Weak transcription	HepG2	liver
27	chr5:61938600-61939800	Enhancers	Fetal Muscle Leg	muscle
28	chr5:61939000-61940200	Enhancers	Primary neutrophils fromperipheralblood	blood
29	chr5:61939000-61945400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr5:61939200-61939800	Genic enhancers	Fetal Stomach	stomach
31	chr5:61939200-61940200	Enhancers	Right Atrium	heart
32	chr5:61939200-61940400	Enhancers	Monocytes-CD14+_RO01746	blood
33	chr5:61939200-61942000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr5:61939400-61940000	Enhancers	Placenta	Placenta
35	chr5:61939400-61940600	Enhancers	Spleen	Spleen
36	chr5:61939600-61939800	Enhancers	Brain Anterior Caudate	brain
37	chr5:61939600-61940200	Strong transcription	Pancreas	Pancrea
38	chr5:61939600-61940200	Enhancers	HUVEC	blood vessel
39	chr5:61939600-61940400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
40	chr5:61939600-61940400	Enhancers	Lung	lung
41	chr5:61939600-61944000	Weak transcription	Fetal Muscle Trunk	muscle
42	chr5:61939600-61944200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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