Variant report

Variant	rs57547662
Chromosome Location	chr5:43448597-43448598
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	chr5:43445384..43449437-chr5:43481236..43485004,3	K562	blood:
2	chr5:43443335..43445222-chr5:43448398..43451206,3	K562	blood:

Variant related genes	Relation type
ENSG00000249492	Chromatin interaction
ENSG00000151881	Chromatin interaction

Extended variants
information (count: 109 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:108)

rs_ID	r²[population]
rs10036954	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10038545	0.80[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs10038608	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10045400	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10045455	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10053229	0.84[ASN][1000 genomes]
rs10054519	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs10058558	0.83[EUR][1000 genomes]
rs10061165	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10066408	0.84[ASN][1000 genomes]
rs10068064	0.84[ASN][1000 genomes]
rs10074682	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10447144	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10462051	0.84[EUR][1000 genomes]
rs10472380	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10473310	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10473311	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10941640	0.84[EUR][1000 genomes]
rs12332560	0.84[EUR][1000 genomes]
rs12651879	0.84[EUR][1000 genomes]
rs12659369	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12697452	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13185343	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1389868	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1389869	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1389870	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1428640	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2013173	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2131998	0.80[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs2131999	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2132000	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2132001	0.88[ASN][1000 genomes]
rs2132003	0.92[ASN][1000 genomes]
rs2172763	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs34007811	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs35710460	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs35881272	0.87[EUR][1000 genomes]
rs36013953	0.87[AFR][1000 genomes];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3776423	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3806870	0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4073848	0.81[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs4073850	0.81[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs4073851	0.84[EUR][1000 genomes]
rs4074777	0.84[ASN][1000 genomes]
rs4242099	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4308491	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4331909	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4367306	0.83[EUR][1000 genomes]
rs4415083	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4467713	0.87[EUR][1000 genomes]
rs4513704	0.83[EUR][1000 genomes]
rs4541663	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4576155	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4866746	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4866833	0.90[EUR][1000 genomes]
rs55641556	0.82[EUR][1000 genomes]
rs56333629	0.84[ASN][1000 genomes]
rs56400900	0.82[EUR][1000 genomes]
rs57403343	0.84[ASN][1000 genomes]
rs57597020	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6451692	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6451693	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6451695	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6451696	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6451697	1.00[ASN][1000 genomes]
rs6451698	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6451699	0.80[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs6451703	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6451704	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6451705	0.92[ASN][1000 genomes]
rs6451706	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6451712	0.85[EUR][1000 genomes]
rs66495712	0.80[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs67466542	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs67581152	0.83[EUR][1000 genomes]
rs6858942	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6859344	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6861704	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6862102	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6865217	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6870018	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6870783	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6878770	0.80[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs6883661	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6895327	0.84[ASN][1000 genomes]
rs6896693	0.92[ASN][1000 genomes]
rs72756535	0.84[ASN][1000 genomes]
rs73100614	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs750582	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs750583	0.96[ASN][1000 genomes]
rs750584	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7703662	0.82[AMR][1000 genomes]
rs7707976	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7708369	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7708443	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7710628	0.84[ASN][1000 genomes]
rs7717636	0.84[EUR][1000 genomes]
rs7718627	1.00[ASN][1000 genomes]
rs7724571	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7731091	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7732140	0.98[ASN][1000 genomes]
rs7734393	0.87[EUR][1000 genomes]
rs7735243	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7736108	1.00[ASN][1000 genomes]
rs9292883	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9686159	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9687341	0.84[EUR][1000 genomes]
rs9885467	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs57547662	NNT	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:43429400-43460200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr5:43433200-43454400	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr5:43433200-43460200	Weak transcription	NHLF	lung
4	chr5:43433400-43456000	Weak transcription	Brain Hippocampus Middle	brain
5	chr5:43433600-43452200	Weak transcription	Osteobl	bone
6	chr5:43433800-43483400	Weak transcription	Gastric	stomach
7	chr5:43438400-43451000	Weak transcription	HepG2	liver
8	chr5:43438800-43460600	Weak transcription	NH-A	brain
9	chr5:43440000-43462400	Weak transcription	Colonic Mucosa	Colon
10	chr5:43440800-43466400	Weak transcription	Colon Smooth Muscle	Colon
11	chr5:43440800-43466800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr5:43441600-43466600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr5:43441800-43461000	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr5:43442000-43453400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr5:43442000-43460000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr5:43443800-43456800	Weak transcription	A549	lung
17	chr5:43443800-43459600	Weak transcription	NHDF-Ad	bronchial
18	chr5:43443800-43460200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr5:43443800-43460200	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr5:43444000-43449400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr5:43444000-43450200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr5:43444000-43450600	Weak transcription	Liver	Liver
23	chr5:43444000-43453400	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr5:43444000-43456400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr5:43444000-43459800	Weak transcription	Fetal Thymus	thymus
26	chr5:43444000-43460200	Weak transcription	Duodenum Mucosa	Duodenum
27	chr5:43444000-43460200	Weak transcription	HSMMtube	muscle
28	chr5:43444000-43460200	Weak transcription	K562	blood
29	chr5:43444000-43460200	Weak transcription	NHEK	skin
30	chr5:43444000-43461400	Weak transcription	Spleen	Spleen
31	chr5:43444000-43463600	Weak transcription	Stomach Smooth Muscle	stomach
32	chr5:43444000-43464400	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr5:43444000-43467000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr5:43444000-43467000	Weak transcription	Left Ventricle	heart
35	chr5:43444000-43482600	Weak transcription	HMEC	breast
36	chr5:43444200-43455600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr5:43444200-43460200	Weak transcription	Monocytes-CD14+_RO01746	blood
38	chr5:43444200-43467000	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr5:43444200-43472600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
40	chr5:43444400-43449800	Weak transcription	Esophagus	oesophagus
41	chr5:43444400-43451400	Weak transcription	Psoas Muscle	Psoas
42	chr5:43444400-43460200	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr5:43444400-43463800	Weak transcription	Small Intestine	intestine
44	chr5:43444600-43450000	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr5:43444600-43455400	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr5:43444600-43459200	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr5:43444600-43460000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr5:43444600-43460000	Weak transcription	Fetal Lung	lung
49	chr5:43444600-43460200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr5:43444600-43460200	Weak transcription	Pancreas	Pancrea

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