Variant report

Variant	rs940296
Chromosome Location	chr2:74200833-74200834
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10166809	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10166873	0.99[ASN][1000 genomes]
rs12713801	0.89[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs4852324	0.89[CHB][hapmap];0.86[CHD][hapmap];0.81[JPT][hapmap];0.83[LWK][hapmap];0.83[MKK][hapmap];0.89[YRI][hapmap];0.80[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs6707395	0.85[CHB][hapmap];0.85[JPT][hapmap];0.86[ASN][1000 genomes]
rs6714060	0.80[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1011177	chr2:74167343-74239905	Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	esv3584956	chr2:74197109-74317135	Flanking Active TSS Genic enhancers Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs940296	NAT8	cis	parietal	SCAN

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:74187200-74206600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr2:74187800-74202600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr2:74187800-74206200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr2:74196800-74201000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
5	chr2:74198400-74208400	Weak transcription	Aorta	Aorta
6	chr2:74199000-74201000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr2:74199000-74206200	Weak transcription	Esophagus	oesophagus
8	chr2:74199000-74206800	Weak transcription	Pancreas	Pancrea
9	chr2:74199200-74201200	Enhancers	Primary T cells from cord blood	blood
10	chr2:74199200-74206000	Weak transcription	Lung	lung
11	chr2:74199200-74206200	Weak transcription	NHEK	skin
12	chr2:74199200-74206600	Weak transcription	A549	lung
13	chr2:74199400-74201400	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr2:74199400-74205400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr2:74199400-74205800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr2:74199600-74206200	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr2:74200200-74205600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr2:74200200-74205600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr2:74200400-74201600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr2:74200400-74202400	Weak transcription	Stomach Mucosa	stomach
21	chr2:74200400-74202800	Weak transcription	Adipose Nuclei	Adipose
22	chr2:74200400-74207600	Weak transcription	Spleen	Spleen
23	chr2:74200600-74202400	Weak transcription	Primary T cells fromperipheralblood	blood
24	chr2:74200600-74202400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr2:74200600-74202400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr2:74200600-74202400	Weak transcription	Fetal Thymus	thymus
27	chr2:74200600-74202400	Weak transcription	Dnd41	blood
28	chr2:74200600-74202600	Weak transcription	Primary hematopoietic stem cells	blood
29	chr2:74200600-74202600	Weak transcription	Primary T helper cells PMA-I stimulated	--
30	chr2:74200600-74202600	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr2:74200600-74202800	Weak transcription	Primary neutrophils fromperipheralblood	blood
32	chr2:74200600-74202800	Weak transcription	Primary T helper cells fromperipheralblood	blood
33	chr2:74200600-74203600	Weak transcription	K562	blood
34	chr2:74200600-74204200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr2:74200600-74204600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
36	chr2:74200600-74205600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
37	chr2:74200600-74205800	Weak transcription	Primary B cells from peripheral blood	blood
38	chr2:74200600-74205800	Weak transcription	Thymus	Thymus
39	chr2:74200600-74206000	Weak transcription	Left Ventricle	heart
40	chr2:74200600-74208200	Weak transcription	Gastric	stomach
41	chr2:74200800-74202600	Weak transcription	Primary monocytes fromperipheralblood	blood
42	chr2:74200800-74204800	Weak transcription	GM12878-XiMat	blood
43	chr2:74200800-74205400	Weak transcription	Monocytes-CD14+_RO01746	blood
44	chr2:74200800-74206000	Weak transcription	Primary B cells from cord blood	blood

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