Variant report

Variant	rs26247
Chromosome Location	chr5:106804363-106804364
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:106803456..106805007-chr5:106904785..106907231,2	K562	blood:
2	chr5:106802607..106804706-chr5:106804946..106806862,2	MCF-7	breast:
3	chr5:106804269..106806001-chr5:106811560..106813893,2	MCF-7	breast:

Extended variants
information (count: 12 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs151957	0.91[GIH][hapmap]
rs25740	0.89[YRI][hapmap]
rs26241	0.96[YRI][hapmap]
rs29543	0.88[ASW][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.93[MKK][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs636137	0.93[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 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
5	nsv462379	chr5:106789764-106806438	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv471037	chr5:106789764-106806438	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv599334	chr5:106789764-106806438	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs26247	NUDT12	cis	parietal	SCAN

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:106792800-106804800	Weak transcription	Esophagus	oesophagus
2	chr5:106797800-106804600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr5:106799400-106805800	Enhancers	HMEC	breast
4	chr5:106799400-106806400	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr5:106799600-106806200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr5:106799600-106806200	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr5:106799600-106806200	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr5:106799600-106806400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr5:106799600-106806400	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr5:106799600-106806800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr5:106799600-106807000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr5:106799600-106807200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr5:106799600-106808200	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr5:106799600-106811200	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr5:106799600-106811800	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr5:106799800-106805200	Enhancers	Placenta Amnion	Placenta Amnion
17	chr5:106799800-106805200	Enhancers	NHEK	skin
18	chr5:106799800-106805600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr5:106799800-106806000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
20	chr5:106799800-106811000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr5:106800000-106806000	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr5:106800600-106804600	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr5:106800600-106804800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr5:106800800-106804800	Weak transcription	GM12878-XiMat	blood
25	chr5:106801600-106804800	Enhancers	HUVEC	blood vessel
26	chr5:106801600-106806400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr5:106802000-106805400	Enhancers	Fetal Heart	heart
28	chr5:106802200-106804600	Enhancers	Pancreatic Islets	Pancreatic Islet
29	chr5:106802200-106804800	Weak transcription	Fetal Thymus	thymus
30	chr5:106802200-106805000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr5:106802400-106804800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr5:106802400-106805000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr5:106802400-106805000	Weak transcription	Osteobl	bone
34	chr5:106802400-106807000	Enhancers	Hela-S3	cervix
35	chr5:106802400-106810200	Weak transcription	Right Atrium	heart
36	chr5:106802600-106805000	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr5:106802600-106805200	Weak transcription	Fetal Kidney	kidney
38	chr5:106802600-106805200	Weak transcription	HSMMtube	muscle
39	chr5:106802600-106805200	Weak transcription	NHDF-Ad	bronchial
40	chr5:106802600-106805800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr5:106802600-106808200	Weak transcription	Gastric	stomach
42	chr5:106802600-106813600	Weak transcription	Right Ventricle	heart
43	chr5:106803000-106804400	Enhancers	Rectal Mucosa Donor 31	rectum
44	chr5:106803000-106804800	Enhancers	Fetal Lung	lung
45	chr5:106803200-106804400	Enhancers	Duodenum Mucosa	Duodenum
46	chr5:106803200-106806200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr5:106803600-106804800	Weak transcription	Primary T cells fromperipheralblood	blood
48	chr5:106803600-106804800	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr5:106803600-106806000	Enhancers	H1 Cell Line	embryonic stem cell
50	chr5:106803600-106808200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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