Variant report

Variant	rs7732140
Chromosome Location	chr5:43452110-43452111
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:43449554..43453846-chr5:43454516..43458805,5	K562	blood:
2	chr5:43444327..43447560-chr5:43451285..43455432,4	K562	blood:
3	chr5:43450668..43452403-chr5:43455966..43458805,2	K562	blood:
4	chr5:43444909..43446701-chr5:43452016..43454646,2	K562	blood:
5	chr5:43431753..43434368-chr5:43450834..43452573,2	MCF-7	breast:
6	chr5:43450006..43452383-chr5:43452422..43454620,2	MCF-7	breast:

Extended variants
information (count: 51 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10036954	0.82[ASN][1000 genomes]
rs10038545	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10053229	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10054519	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10066408	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10068064	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10074682	0.94[ASN][1000 genomes]
rs10472380	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10473310	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10473311	0.94[ASN][1000 genomes]
rs1389868	0.92[ASN][1000 genomes]
rs1389869	0.98[ASN][1000 genomes]
rs1389870	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1593971	0.86[AMR][1000 genomes]
rs2131998	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2132001	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2132003	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28437972	0.90[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs3776423	0.82[ASN][1000 genomes]
rs4072918	0.80[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs4072919	0.82[EUR][1000 genomes]
rs4074777	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs55855322	0.90[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs56333629	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs57403343	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs57547662	0.98[ASN][1000 genomes]
rs6451693	0.88[ASN][1000 genomes]
rs6451695	0.98[ASN][1000 genomes]
rs6451696	0.98[ASN][1000 genomes]
rs6451697	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6451699	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6451704	0.90[ASN][1000 genomes]
rs6451705	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs66495712	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs67466542	0.82[ASN][1000 genomes]
rs6858942	0.90[ASN][1000 genomes]
rs6862102	0.96[ASN][1000 genomes]
rs6869933	0.80[AFR][1000 genomes]
rs6870018	0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs6878770	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6885679	0.88[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs6891363	0.80[AFR][1000 genomes]
rs6895327	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6896693	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72756535	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73100614	0.92[ASN][1000 genomes]
rs750583	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7710628	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7718627	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7736108	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][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
rs7732140	NNT	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:87 , 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	chr5:43438800-43460600	Weak transcription	NH-A	brain
8	chr5:43440000-43462400	Weak transcription	Colonic Mucosa	Colon
9	chr5:43440800-43466400	Weak transcription	Colon Smooth Muscle	Colon
10	chr5:43440800-43466800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr5:43441600-43466600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr5:43441800-43461000	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr5:43442000-43453400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr5:43442000-43460000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr5:43443800-43456800	Weak transcription	A549	lung
16	chr5:43443800-43459600	Weak transcription	NHDF-Ad	bronchial
17	chr5:43443800-43460200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr5:43443800-43460200	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr5:43444000-43453400	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr5:43444000-43456400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr5:43444000-43459800	Weak transcription	Fetal Thymus	thymus
22	chr5:43444000-43460200	Weak transcription	Duodenum Mucosa	Duodenum
23	chr5:43444000-43460200	Weak transcription	HSMMtube	muscle
24	chr5:43444000-43460200	Weak transcription	K562	blood
25	chr5:43444000-43460200	Weak transcription	NHEK	skin
26	chr5:43444000-43461400	Weak transcription	Spleen	Spleen
27	chr5:43444000-43463600	Weak transcription	Stomach Smooth Muscle	stomach
28	chr5:43444000-43464400	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr5:43444000-43467000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr5:43444000-43467000	Weak transcription	Left Ventricle	heart
31	chr5:43444000-43482600	Weak transcription	HMEC	breast
32	chr5:43444200-43455600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr5:43444200-43460200	Weak transcription	Monocytes-CD14+_RO01746	blood
34	chr5:43444200-43467000	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr5:43444200-43472600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
36	chr5:43444400-43460200	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr5:43444400-43463800	Weak transcription	Small Intestine	intestine
38	chr5:43444600-43455400	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr5:43444600-43459200	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr5:43444600-43460000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr5:43444600-43460000	Weak transcription	Fetal Lung	lung
42	chr5:43444600-43460200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr5:43444600-43460200	Weak transcription	Pancreas	Pancrea
44	chr5:43444600-43460200	Weak transcription	Thymus	Thymus
45	chr5:43444600-43460600	Weak transcription	Fetal Stomach	stomach
46	chr5:43444600-43460800	Weak transcription	Lung	lung
47	chr5:43444600-43463600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr5:43444600-43466800	Weak transcription	Brain Angular Gyrus	brain
49	chr5:43444800-43455200	Weak transcription	Fetal Intestine Small	intestine
50	chr5:43444800-43466600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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