Variant report

Variant	rs6451694
Chromosome Location	chr5:43443747-43443748
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	chr5:43443335..43445222-chr5:43448398..43451206,3	K562	blood:
2	chr5:43442199..43444663-chr5:43460452..43462412,2	K562	blood:

Extended variants
information (count: 14 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs16873327	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.95[LWK][hapmap];0.96[MKK][hapmap];0.93[YRI][hapmap];0.95[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs16873406	1.00[CEU][hapmap];0.86[YRI][hapmap]
rs6867927	1.00[CEU][hapmap]
rs6873555	1.00[CEU][hapmap];1.00[GIH][hapmap];0.86[YRI][hapmap]
rs6885326	0.86[AFR][1000 genomes]
rs6890108	0.85[YRI][hapmap]
rs6890419	1.00[CEU][hapmap]
rs6896527	1.00[CEU][hapmap]
rs6897816	1.00[CEU][hapmap]
rs7700826	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.86[YRI][hapmap]
rs7712723	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7715976	1.00[CEU][hapmap]
rs7716564	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.90[MKK][hapmap];0.93[YRI][hapmap];0.85[AFR][1000 genomes]
rs7728139	1.00[CEU][hapmap]

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs6451694	NNT	Cis_1M	lymphoblastoid	RTeQTL
rs6451694	MGC42105	cis	lymphoblastoid	seeQTL
rs6451694	Hs.482037	cis	multi-tissue	Pritchard
rs6451694	NNT	cis	lymphoblastoid	seeQTL

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	chr5:43438400-43451000	Weak transcription	HepG2	liver
8	chr5:43438600-43443800	Weak transcription	Lung	lung
9	chr5:43438800-43460600	Weak transcription	NH-A	brain
10	chr5:43440000-43462400	Weak transcription	Colonic Mucosa	Colon
11	chr5:43440800-43444000	Weak transcription	Small Intestine	intestine
12	chr5:43440800-43466400	Weak transcription	Colon Smooth Muscle	Colon
13	chr5:43440800-43466800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr5:43441600-43466600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr5:43441800-43445000	Weak transcription	HSMM	muscle
16	chr5:43441800-43461000	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr5:43442000-43453400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr5:43442000-43460000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr5:43442600-43445000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr5:43442600-43446200	Weak transcription	Fetal Brain Male	brain
21	chr5:43443000-43448400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr5:43443200-43444000	ZNF genes & repeats	Primary B cells from peripheral blood	blood
23	chr5:43443400-43443800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
24	chr5:43443400-43443800	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
25	chr5:43443400-43443800	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
26	chr5:43443400-43444000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr5:43443400-43444000	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr5:43443400-43444000	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr5:43443400-43444000	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr5:43443400-43444000	ZNF genes & repeats	Fetal Muscle Leg	muscle
31	chr5:43443400-43444000	ZNF genes & repeats	Hela-S3	cervix
32	chr5:43443400-43444000	ZNF genes & repeats	HSMMtube	muscle
33	chr5:43443400-43444200	ZNF genes & repeats	Primary B cells from cord blood	blood
34	chr5:43443400-43444200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr5:43443400-43444200	Strong transcription	Duodenum Smooth Muscle	Duodenum
36	chr5:43443400-43444200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
37	chr5:43443400-43444400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
38	chr5:43443400-43444400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
39	chr5:43443400-43444600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr5:43443400-43444600	ZNF genes & repeats	Fetal Intestine Large	intestine
41	chr5:43443400-43444600	ZNF genes & repeats	Ovary	ovary
42	chr5:43443400-43445200	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr5:43443400-43445200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr5:43443400-43446600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
45	chr5:43443400-43446800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr5:43443400-43448000	Weak transcription	Primary T cells fromperipheralblood	blood
47	chr5:43443600-43443800	ZNF genes & repeats	Adipose Nuclei	Adipose
48	chr5:43443600-43443800	ZNF genes & repeats	Brain Germinal Matrix	brain
49	chr5:43443600-43443800	Weak transcription	Fetal Thymus	thymus
50	chr5:43443600-43444000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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