Variant report

Variant	rs27362
Chromosome Location	chr5:106837754-106837755
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10464038	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1154314	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];1.00[LWK][hapmap];0.96[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1196516	0.92[CHB][hapmap]
rs13358660	1.00[EUR][1000 genomes]
rs25967	1.00[EUR][1000 genomes]
rs25968	1.00[EUR][1000 genomes]
rs26237	1.00[EUR][1000 genomes]
rs26238	1.00[EUR][1000 genomes]
rs26248	0.92[CHB][hapmap];0.86[CHD][hapmap]
rs26249	1.00[CHB][hapmap];0.93[CHD][hapmap];0.86[MKK][hapmap];0.82[YRI][hapmap]
rs26252	0.92[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs29542	1.00[GIH][hapmap];0.81[JPT][hapmap];1.00[EUR][1000 genomes]
rs32005	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs32006	0.92[CHB][hapmap];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030118	chr5:106006097-106847949	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv1034276	chr5:106461538-106944163	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv537851	chr5:106461538-106944163	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	esv34018	chr5:106720912-107110506	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:106808400-106837800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr5:106820600-106838200	Weak transcription	Fetal Brain Male	brain
3	chr5:106823200-106837800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr5:106823600-106837800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr5:106826600-106838400	Weak transcription	Left Ventricle	heart
6	chr5:106830600-106837800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr5:106832600-106837800	Weak transcription	HSMM	muscle
8	chr5:106833200-106839400	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr5:106834200-106838200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr5:106834200-106840400	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr5:106834400-106840000	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr5:106834400-106848600	Weak transcription	HMEC	breast
13	chr5:106834600-106838800	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr5:106835000-106838000	Enhancers	A549	lung
15	chr5:106835200-106839200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr5:106835400-106838000	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr5:106835800-106837800	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr5:106836200-106837800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr5:106836200-106838000	Weak transcription	Fetal Heart	heart
20	chr5:106836200-106838400	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr5:106836400-106837800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr5:106836400-106855800	Weak transcription	Aorta	Aorta
23	chr5:106836600-106841000	Weak transcription	Stomach Mucosa	stomach
24	chr5:106836800-106837800	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr5:106836800-106837800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr5:106836800-106837800	Enhancers	Dnd41	blood
27	chr5:106836800-106838200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr5:106836800-106838400	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr5:106836800-106841600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr5:106837400-106837800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr5:106837400-106838200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
32	chr5:106837400-106839200	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr5:106837400-106839200	Active TSS	Pancreatic Islets	Pancreatic Islet
34	chr5:106837600-106837800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr5:106837600-106837800	Flanking Active TSS	Fetal Kidney	kidney
36	chr5:106837600-106837800	Flanking Active TSS	Fetal Stomach	stomach
37	chr5:106837600-106838000	Active TSS	HUVEC	blood vessel
38	chr5:106837600-106838000	Enhancers	NHLF	lung
39	chr5:106837600-106838200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr5:106837600-106838200	Enhancers	Primary T cells from cord blood	blood
41	chr5:106837600-106838200	Enhancers	Muscle Satellite Cultured Cells	--
42	chr5:106837600-106838200	Active TSS	Stomach Smooth Muscle	stomach
43	chr5:106837600-106838200	Enhancers	NH-A	brain
44	chr5:106837600-106838400	Active TSS	Rectal Smooth Muscle	rectum
45	chr5:106837600-106838600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr5:106837600-106838600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr5:106837600-106838600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
48	chr5:106837600-106838600	Flanking Active TSS	Fetal Lung	lung
49	chr5:106837600-106838600	Enhancers	Right Ventricle	heart
50	chr5:106837600-106838800	Enhancers	ES-WA7 Cell Line	embryonic stem cell

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