Variant report

Variant	rs42281
Chromosome Location	chr5:127694436-127694437
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs151987	0.96[CEU][hapmap];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs153995	0.97[ASN][1000 genomes]
rs194276	0.89[ASN][1000 genomes]
rs255690	0.96[CEU][hapmap];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs255691	0.83[ASN][1000 genomes]
rs26024	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs26378	0.81[ASN][1000 genomes]
rs27457	0.89[ASN][1000 genomes]
rs27754	0.81[ASN][1000 genomes]
rs32217	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs32220	0.88[CHB][hapmap]
rs32223	0.81[ASN][1000 genomes]
rs32238	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs331069	0.89[CHB][hapmap]
rs331071	0.88[CHB][hapmap];0.86[JPT][hapmap]
rs331096	1.00[CHB][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs331098	0.89[YRI][hapmap]
rs331099	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs39941	0.92[CEU][hapmap];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs458882	0.96[CEU][hapmap];0.84[EUR][1000 genomes]
rs469070	0.92[CEU][hapmap];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs469722	0.96[CEU][hapmap];0.84[EUR][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	nsv599697	chr5:127563563-127731210	Weak transcription Active TSS Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
2	nsv830483	chr5:127595570-127705124	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
3	nsv531991	chr5:127624564-127966085	Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:127672000-127746000	Weak transcription	NHDF-Ad	bronchial
2	chr5:127673800-127706400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr5:127675600-127742200	Weak transcription	Fetal Intestine Small	intestine
4	chr5:127677600-127694800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr5:127677800-127711400	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr5:127678600-127701000	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr5:127679200-127704200	Weak transcription	Fetal Intestine Large	intestine
8	chr5:127679200-127731200	Weak transcription	Right Ventricle	heart
9	chr5:127679800-127704400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr5:127681400-127704400	Weak transcription	Ovary	ovary
11	chr5:127681400-127706600	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr5:127681600-127704200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr5:127681600-127714400	Weak transcription	HUVEC	blood vessel
14	chr5:127685400-127725000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr5:127685600-127704200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr5:127685800-127702000	Weak transcription	HMEC	breast
17	chr5:127685800-127712400	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr5:127686000-127738400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr5:127686000-127742000	Weak transcription	A549	lung
20	chr5:127686600-127695400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr5:127686600-127704800	Weak transcription	NH-A	brain
22	chr5:127686800-127704400	Weak transcription	Left Ventricle	heart
23	chr5:127687600-127704400	Weak transcription	Fetal Muscle Trunk	muscle
24	chr5:127690200-127696200	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr5:127690200-127698800	Weak transcription	Fetal Stomach	stomach
26	chr5:127690200-127724800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr5:127690800-127694600	Weak transcription	Fetal Kidney	kidney
28	chr5:127691000-127704200	Weak transcription	Fetal Muscle Leg	muscle
29	chr5:127691200-127703600	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr5:127691200-127704200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr5:127692800-127694800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr5:127693000-127702600	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr5:127693000-127703800	Weak transcription	NHEK	skin
34	chr5:127693000-127704200	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr5:127693200-127699800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr5:127693400-127694800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr5:127693400-127695200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr5:127693400-127695800	Weak transcription	Fetal Heart	heart
39	chr5:127693400-127696200	Weak transcription	Primary monocytes fromperipheralblood	blood
40	chr5:127693400-127697200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr5:127693400-127698000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr5:127693400-127698000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr5:127693400-127698200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr5:127693400-127699400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr5:127693400-127714600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chr5:127693600-127695400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr5:127693600-127696000	Weak transcription	Placenta	Placenta
48	chr5:127693800-127696400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr5:127694000-127695400	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chr5:127694000-127696000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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