Variant report

Variant	rs13391360
Chromosome Location	chr2:74223451-74223452
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	chr17:57914589..57917529-chr2:74223236..74226145,2	MCF-7	breast:
2	chr2:74221747..74224676-chr2:74425256..74427914,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-BOLA3-4	chr2:74223116-74223610	NONHSAT071648

Variant related genes	Relation type
ENSG00000062716	Chromatin interaction
ENSG00000065911	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10165243	0.84[EUR][1000 genomes]
rs10166357	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10206797	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12713802	0.92[CEU][hapmap];1.00[GIH][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13391252	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13391722	0.92[CEU][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13404452	0.92[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13416937	0.92[CEU][hapmap];1.00[GIH][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28534414	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs28569001	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs34363691	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34961871	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35259799	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35972889	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4241258	0.92[CEU][hapmap];0.90[EUR][1000 genomes]
rs4384817	1.00[GIH][hapmap]
rs7581252	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7608044	0.92[EUR][1000 genomes]

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
rs13391360	NAT8	cis	parietal	SCAN

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:74215600-74224800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr2:74215800-74224600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr2:74215800-74225000	Weak transcription	Brain Anterior Caudate	brain
4	chr2:74215800-74225400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:74215800-74225600	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr2:74215800-74226800	Weak transcription	Colonic Mucosa	Colon
7	chr2:74215800-74226800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr2:74215800-74226800	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr2:74215800-74227000	Weak transcription	Right Atrium	heart
10	chr2:74215800-74227400	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr2:74215800-74229200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr2:74216000-74225400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr2:74216000-74227000	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr2:74216000-74227000	Weak transcription	Small Intestine	intestine
15	chr2:74216400-74226600	Weak transcription	Fetal Heart	heart
16	chr2:74216400-74229200	Weak transcription	Rectal Smooth Muscle	rectum
17	chr2:74216600-74224000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr2:74216600-74225200	Weak transcription	Fetal Lung	lung
19	chr2:74216600-74226800	Weak transcription	Fetal Kidney	kidney
20	chr2:74216600-74227400	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr2:74216800-74226600	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr2:74216800-74226800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr2:74218000-74226800	Weak transcription	Liver	Liver
24	chr2:74218600-74224400	Weak transcription	Fetal Brain Female	brain
25	chr2:74219400-74224200	Weak transcription	Pancreas	Pancrea
26	chr2:74219400-74224600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr2:74219400-74224600	Weak transcription	Fetal Intestine Large	intestine
28	chr2:74219400-74226400	Strong transcription	Fetal Intestine Small	intestine
29	chr2:74220600-74225000	Enhancers	K562	blood
30	chr2:74220600-74227400	Enhancers	Primary T helper naive cells from peripheral blood	blood
31	chr2:74220800-74224000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr2:74220800-74224800	Strong transcription	Fetal Thymus	thymus
33	chr2:74220800-74226600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr2:74220800-74226800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr2:74220800-74226800	Weak transcription	Fetal Muscle Trunk	muscle
36	chr2:74220800-74226800	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr2:74220800-74229200	Weak transcription	Primary hematopoietic stem cells	blood
38	chr2:74221000-74223800	Enhancers	Primary B cells from peripheral blood	blood
39	chr2:74221000-74224000	Weak transcription	Fetal Brain Male	brain
40	chr2:74221000-74224400	Weak transcription	NH-A	brain
41	chr2:74221000-74226400	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr2:74221000-74226800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr2:74221200-74223800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr2:74221200-74224200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr2:74221200-74224800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
46	chr2:74221200-74224800	Weak transcription	Placenta	Placenta
47	chr2:74221200-74225400	Weak transcription	Hela-S3	cervix
48	chr2:74221200-74226000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr2:74221200-74226600	Weak transcription	Esophagus	oesophagus
50	chr2:74221200-74226600	Weak transcription	Sigmoid Colon	Sigmoid Colon

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