Variant report

Variant	rs27750
Chromosome Location	chr5:106814090-106814091
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:106808580..106812777-chr5:106814056..106818233,4	MCF-7	breast:
2	chr5:106812320..106814965-chr5:107717200..107719891,2	K562	blood:

Variant related genes	Relation type
ENSG00000145743	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs25963	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs25995	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs25998	1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];0.93[ASN][1000 genomes]
rs25999	1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];1.00[LWK][hapmap];0.85[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs27445	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs27930	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs27750	NUDT12	cis	parietal	SCAN

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:106805600-106822600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr5:106806000-106825600	Weak transcription	Aorta	Aorta
3	chr5:106806200-106822200	Weak transcription	HSMM	muscle
4	chr5:106806800-106815600	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr5:106808400-106837800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr5:106808600-106822600	Weak transcription	Gastric	stomach
7	chr5:106808800-106822800	Weak transcription	Left Ventricle	heart
8	chr5:106809000-106822800	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr5:106809200-106814800	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr5:106809800-106814600	Enhancers	HUVEC	blood vessel
11	chr5:106810000-106814200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr5:106810000-106814400	Enhancers	Fetal Heart	heart
13	chr5:106810200-106814200	Enhancers	GM12878-XiMat	blood
14	chr5:106810400-106817800	Weak transcription	Right Atrium	heart
15	chr5:106811200-106816800	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr5:106811400-106817200	Weak transcription	Small Intestine	intestine
17	chr5:106811600-106819200	Weak transcription	Fetal Lung	lung
18	chr5:106812000-106815400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr5:106812000-106815400	Enhancers	NHEK	skin
20	chr5:106812000-106816000	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr5:106812200-106814200	Enhancers	Duodenum Mucosa	Duodenum
22	chr5:106812200-106814600	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr5:106812200-106814600	Enhancers	Rectal Mucosa Donor 31	rectum
24	chr5:106812200-106814800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr5:106812200-106815000	Enhancers	Pancreatic Islets	Pancreatic Islet
26	chr5:106812200-106815800	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr5:106812200-106816200	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr5:106812400-106814400	Enhancers	Fetal Intestine Large	intestine
29	chr5:106812400-106814600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr5:106812400-106815400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr5:106812400-106815800	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr5:106812600-106814400	Enhancers	HMEC	breast
33	chr5:106812800-106815000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr5:106813000-106816800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr5:106813000-106817200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr5:106813000-106819200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr5:106813200-106814200	Enhancers	Colonic Mucosa	Colon
38	chr5:106813200-106816600	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr5:106813200-106821400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
40	chr5:106813400-106814200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
41	chr5:106813400-106814200	Enhancers	Primary T killer memory cells from peripheral blood	blood
42	chr5:106813400-106814400	Enhancers	Cortex derived primary cultured neurospheres	brain
43	chr5:106813600-106814200	Enhancers	Primary T helper naive cells from peripheral blood	blood
44	chr5:106813600-106814200	Enhancers	Sigmoid Colon	Sigmoid Colon
45	chr5:106813600-106814400	Enhancers	Stomach Mucosa	stomach
46	chr5:106813600-106814600	Enhancers	H1 Cell Line	embryonic stem cell
47	chr5:106813600-106814600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr5:106813800-106814200	Enhancers	Esophagus	oesophagus
49	chr5:106813800-106814200	Enhancers	NHDF-Ad	bronchial
50	chr5:106813800-106814400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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