Variant report

Variant	rs7706431
Chromosome Location	chr5:43582423-43582424
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:43581954..43585257-chr5:43588068..43592627,7	K562	blood:
2	chr5:43556877..43558886-chr5:43581012..43583426,2	K562	blood:

Variant related genes	Relation type
ENSG00000249286	Chromatin interaction
ENSG00000172239	Chromatin interaction

Extended variants
information (count: 58 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10059912	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10059993	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10065689	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10462051	0.90[ASN][1000 genomes]
rs11949083	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11952832	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11958046	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12187908	0.82[ASN][1000 genomes]
rs12332560	0.90[ASN][1000 genomes]
rs12521249	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12651879	0.88[ASN][1000 genomes]
rs12697457	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13189484	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13359906	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1366410	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28437972	0.86[ASN][1000 genomes]
rs28606458	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4072918	0.86[ASN][1000 genomes]
rs4072919	0.86[ASN][1000 genomes]
rs4331909	0.86[ASN][1000 genomes]
rs4386738	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4428418	0.98[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4467713	0.86[ASN][1000 genomes]
rs4535459	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4610465	0.92[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs4866833	0.86[ASN][1000 genomes]
rs4866835	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs55667604	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs55855322	0.86[ASN][1000 genomes]
rs56008952	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs56097465	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs59001943	0.86[ASN][1000 genomes]
rs59224335	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60297702	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6451712	0.86[ASN][1000 genomes]
rs67261887	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs67581152	0.88[ASN][1000 genomes]
rs6860493	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6866325	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6866802	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6869933	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6884661	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6891363	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6898866	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7705166	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7713479	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7715782	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7717636	0.90[ASN][1000 genomes]
rs7732656	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7736615	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7737793	0.84[EUR][1000 genomes]
rs9687341	0.81[ASN][1000 genomes]
rs9885189	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv881017	chr5:43444826-43731692	Weak transcription Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	222 gene(s)	inside rSNPs	diseases
2	nsv830275	chr5:43469511-43639384	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	220 gene(s)	inside rSNPs	diseases
3	nsv881108	chr5:43527432-43800333	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
4	esv3471239	chr5:43541792-43587904	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
5	esv3471240	chr5:43541792-43587904	Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7706431	NNT	cis	multi-tissue	Pritchard
rs7706431	NNT	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:43557800-43584600	Weak transcription	Psoas Muscle	Psoas
2	chr5:43560200-43584400	Weak transcription	K562	blood
3	chr5:43565400-43601800	Weak transcription	Fetal Thymus	thymus
4	chr5:43566200-43590400	Weak transcription	Thymus	Thymus
5	chr5:43566800-43586000	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr5:43567400-43602000	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr5:43568000-43601800	Weak transcription	Primary B cells from peripheral blood	blood
8	chr5:43568000-43602400	Weak transcription	Pancreas	Pancrea
9	chr5:43568600-43601800	Weak transcription	Fetal Brain Female	brain
10	chr5:43569000-43601400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr5:43569200-43591800	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr5:43570200-43601800	Weak transcription	Right Ventricle	heart
13	chr5:43572000-43591800	Weak transcription	Aorta	Aorta
14	chr5:43572000-43602400	Weak transcription	Ovary	ovary
15	chr5:43572400-43582600	Weak transcription	Primary hematopoietic stem cells	blood
16	chr5:43572600-43583400	Weak transcription	Stomach Smooth Muscle	stomach
17	chr5:43572800-43584400	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr5:43573000-43582600	Weak transcription	Adipose Nuclei	Adipose
19	chr5:43573000-43601800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr5:43573000-43601800	Weak transcription	Primary T cells fromperipheralblood	blood
21	chr5:43573600-43583200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr5:43573800-43584600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr5:43574000-43583800	Weak transcription	Brain Angular Gyrus	brain
24	chr5:43574000-43601800	Weak transcription	Brain Anterior Caudate	brain
25	chr5:43574400-43582600	Weak transcription	Fetal Lung	lung
26	chr5:43574400-43600800	Weak transcription	Primary T helper cells fromperipheralblood	blood
27	chr5:43575000-43584800	Weak transcription	Brain Hippocampus Middle	brain
28	chr5:43575000-43589200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr5:43575000-43592400	Weak transcription	Brain Germinal Matrix	brain
30	chr5:43575000-43601400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr5:43575800-43590800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr5:43575800-43592800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr5:43576000-43582600	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr5:43576400-43601400	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr5:43576800-43583000	Weak transcription	Primary T cells from cord blood	blood
36	chr5:43576800-43591600	Weak transcription	GM12878-XiMat	blood
37	chr5:43577200-43585400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr5:43577200-43601800	Weak transcription	Fetal Stomach	stomach
39	chr5:43577400-43583400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr5:43577400-43583400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr5:43577600-43582600	Weak transcription	Fetal Heart	heart
42	chr5:43577600-43586400	Weak transcription	Hela-S3	cervix
43	chr5:43577600-43601600	Weak transcription	Primary B cells from cord blood	blood
44	chr5:43579400-43601800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr5:43580600-43582600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr5:43581000-43583600	Strong transcription	Fetal Muscle Leg	muscle
47	chr5:43581600-43583000	Strong transcription	Left Ventricle	heart
48	chr5:43581600-43583200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
49	chr5:43581800-43582800	Strong transcription	Fetal Intestine Large	intestine
50	chr5:43581800-43583600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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