Variant report

Variant	rs2044241
Chromosome Location	chr5:112523526-112523527
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:112519720..112522238-chr5:112522519..112525224,2	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11739347	0.85[CEU][hapmap];0.82[TSI][hapmap]
rs12658162	0.84[EUR][1000 genomes]
rs13153785	0.90[CEU][hapmap];0.88[LWK][hapmap];0.82[MEX][hapmap];0.82[MKK][hapmap];0.94[TSI][hapmap];0.92[EUR][1000 genomes]
rs1345077	0.92[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];0.83[TSI][hapmap];0.94[ASN][1000 genomes]
rs1345078	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.97[TSI][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1348431	0.90[CEU][hapmap];0.83[GIH][hapmap];0.82[MKK][hapmap];0.94[TSI][hapmap];0.92[EUR][1000 genomes]
rs1348433	0.86[CHB][hapmap];0.86[CHD][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs2044240	0.87[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs2416313	1.00[CEU][hapmap];0.94[TSI][hapmap];0.98[EUR][1000 genomes]
rs2416314	0.86[CEU][hapmap];0.83[TSI][hapmap];0.98[EUR][1000 genomes]
rs2900071	0.95[CEU][hapmap];0.94[TSI][hapmap];0.94[EUR][1000 genomes]
rs4705802	0.92[CHB][hapmap];1.00[CHD][hapmap];0.91[JPT][hapmap];0.91[ASN][1000 genomes]
rs6891544	0.93[ASN][1000 genomes]
rs7717494	0.86[ASN][1000 genomes]
rs935163	1.00[ASW][hapmap];1.00[CEU][hapmap];0.84[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];0.99[MKK][hapmap];0.97[TSI][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv599396	chr5:112408944-112853189	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv882718	chr5:112519471-112674376	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112504800-112525600	Weak transcription	Esophagus	oesophagus
2	chr5:112507000-112526000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr5:112514400-112530600	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr5:112515200-112526400	Weak transcription	Lung	lung
5	chr5:112515800-112530200	Weak transcription	Psoas Muscle	Psoas
6	chr5:112515800-112538000	Weak transcription	Fetal Kidney	kidney
7	chr5:112516400-112524000	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr5:112517600-112525000	Enhancers	Ovary	ovary
9	chr5:112518600-112525600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr5:112518600-112538600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr5:112520400-112524800	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr5:112520600-112525800	Enhancers	Fetal Heart	heart
13	chr5:112520800-112524000	Enhancers	Right Ventricle	heart
14	chr5:112521000-112524400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr5:112521200-112524400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr5:112522000-112525400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr5:112522000-112525800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr5:112522000-112538800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr5:112522200-112525400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr5:112522400-112524200	Weak transcription	Brain Angular Gyrus	brain
21	chr5:112522400-112525400	Weak transcription	HMEC	breast
22	chr5:112522400-112525400	Weak transcription	NHEK	skin
23	chr5:112522600-112523600	Weak transcription	Liver	Liver
24	chr5:112522600-112525400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr5:112522600-112525600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr5:112522600-112528200	Weak transcription	Fetal Lung	lung
27	chr5:112522600-112528600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr5:112522600-112530600	Weak transcription	Adipose Nuclei	Adipose
29	chr5:112522600-112534800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr5:112522600-112535200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr5:112522600-112535200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr5:112522600-112541000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr5:112522800-112525600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr5:112522800-112525800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr5:112522800-112525800	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr5:112522800-112525800	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr5:112522800-112528600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr5:112522800-112535000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr5:112523000-112525600	Weak transcription	Right Atrium	heart
40	chr5:112523000-112528600	Weak transcription	Fetal Muscle Leg	muscle
41	chr5:112523200-112523600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr5:112523200-112524600	Weak transcription	Left Ventricle	heart
43	chr5:112523200-112525600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr5:112523400-112523800	Weak transcription	Fetal Muscle Trunk	muscle
45	chr5:112523400-112524400	Enhancers	Brain Germinal Matrix	brain

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