Variant report

Variant	rs6048784
Chromosome Location	chr20:23382652-23382653
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr20:23341037..23344521-chr20:23380576..23383557,3	MCF-7	breast:
2	chr20:23368468..23371240-chr20:23381189..23383577,2	K562	blood:
3	chr20:23381253..23384525-chr20:23386281..23388219,3	K562	blood:
4	chr20:23377748..23380107-chr20:23380413..23383027,2	MCF-7	breast:
5	chr20:23336285..23337868-chr20:23382600..23384693,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000125812	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1016628	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12349	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1419007	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2024746	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2180139	1.00[CEU][hapmap];0.90[CHB][hapmap];0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2236023	1.00[CHB][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2243448	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2253834	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2281431	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2295239	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2424527	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2424542	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2424555	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2424559	0.80[EUR][1000 genomes]
rs3746736	0.81[EUR][1000 genomes]
rs4142246	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4815198	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6048750	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6048760	0.96[CEU][hapmap];1.00[CHB][hapmap];0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6048779	1.00[CEU][hapmap];0.90[CHB][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6048781	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6076055	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6083114	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6083127	0.82[EUR][1000 genomes]
rs6137933	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs761723	1.00[CEU][hapmap];0.86[CHB][hapmap];0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs999068	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs6048784	NAPB	cis	Skin Sun Exposed Lower leg	GTEx
rs6048784	NAPB	cis	Artery Tibial	GTEx

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:23344000-23392600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr20:23348200-23384800	Weak transcription	Stomach Mucosa	stomach
3	chr20:23354400-23389000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr20:23354400-23399800	Weak transcription	Hela-S3	cervix
5	chr20:23361200-23399600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr20:23372800-23400800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr20:23375000-23389800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr20:23375600-23384400	Weak transcription	Fetal Lung	lung
9	chr20:23375600-23384600	Weak transcription	Brain Germinal Matrix	brain
10	chr20:23375600-23390600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr20:23375600-23396800	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr20:23375600-23400000	Weak transcription	Rectal Smooth Muscle	rectum
13	chr20:23375800-23382800	Weak transcription	Duodenum Mucosa	Duodenum
14	chr20:23375800-23383800	Weak transcription	Colonic Mucosa	Colon
15	chr20:23375800-23384600	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr20:23375800-23384600	Weak transcription	HMEC	breast
17	chr20:23375800-23385000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr20:23375800-23386800	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr20:23375800-23387600	Weak transcription	K562	blood
20	chr20:23375800-23388200	Weak transcription	Small Intestine	intestine
21	chr20:23375800-23388600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr20:23375800-23396200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr20:23375800-23400000	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr20:23375800-23400200	Weak transcription	Fetal Brain Male	brain
25	chr20:23376000-23383800	Weak transcription	Fetal Kidney	kidney
26	chr20:23376000-23384400	Weak transcription	Placenta	Placenta
27	chr20:23376000-23384600	Weak transcription	NHLF	lung
28	chr20:23376000-23384800	Weak transcription	Esophagus	oesophagus
29	chr20:23376000-23388600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr20:23376000-23389000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr20:23376000-23390400	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr20:23376200-23389000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr20:23376600-23400400	Weak transcription	Fetal Muscle Trunk	muscle
34	chr20:23376800-23391800	Weak transcription	Adipose Nuclei	Adipose
35	chr20:23377000-23398400	Weak transcription	Primary hematopoietic stem cells	blood
36	chr20:23377600-23384400	Strong transcription	HepG2	liver
37	chr20:23378000-23385000	Weak transcription	Aorta	Aorta
38	chr20:23378200-23388200	Weak transcription	Brain Anterior Caudate	brain
39	chr20:23378200-23391800	Weak transcription	Brain Angular Gyrus	brain
40	chr20:23378200-23400000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr20:23378400-23383800	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr20:23378400-23399800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr20:23378600-23382800	Weak transcription	Primary T helper cells fromperipheralblood	blood
44	chr20:23378800-23382800	Weak transcription	NHDF-Ad	bronchial
45	chr20:23378800-23384600	Weak transcription	Colon Smooth Muscle	Colon
46	chr20:23378800-23390400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr20:23378800-23391800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr20:23378800-23396400	Weak transcription	Brain Cingulate Gyrus	brain
49	chr20:23378800-23399800	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr20:23379000-23389600	Weak transcription	Brain Hippocampus Middle	brain

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