Variant report

Variant	rs2243448
Chromosome Location	chr20:23378345-23378346
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr20:23377748..23380107-chr20:23380413..23383027,2	MCF-7	breast:
2	chr20:23365990..23367879-chr20:23377363..23380103,2	MCF-7	breast:
3	chr20:23336291..23339016-chr20:23377494..23379977,2	K562	blood:

Variant related genes	Relation type
ENSG00000232645	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs1016628	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12349	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1419007	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2024746	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2064587	1.00[LWK][hapmap]
rs2180139	1.00[CEU][hapmap];0.90[CHB][hapmap];0.90[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.98[TSI][hapmap];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2236023	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2253834	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2281431	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2295239	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2424527	0.93[EUR][1000 genomes]
rs2424542	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2424555	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2424559	0.85[GIH][hapmap];0.91[MEX][hapmap];0.83[TSI][hapmap];0.80[EUR][1000 genomes]
rs3746736	0.80[GIH][hapmap];0.91[MEX][hapmap];0.83[TSI][hapmap];0.81[EUR][1000 genomes]
rs4142246	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4815198	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6048742	1.00[YRI][hapmap]
rs6048750	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6048760	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.98[TSI][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6048779	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6048781	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6048784	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6076055	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6083114	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6083127	0.82[EUR][1000 genomes]
rs6137933	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs761723	1.00[CEU][hapmap];0.84[CHB][hapmap];0.88[JPT][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs761845	1.00[LWK][hapmap]
rs999068	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2243448	NAPB	cis	Artery Tibial	GTEx
rs2243448	NAPB	cis	Skin Sun Exposed Lower leg	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	chr20:23366800-23382400	Strong transcription	Dnd41	blood
7	chr20:23367800-23380400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
8	chr20:23372400-23378600	Strong transcription	Primary T helper cells fromperipheralblood	blood
9	chr20:23372800-23400800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr20:23373400-23378400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
11	chr20:23374000-23379000	Strong transcription	Primary B cells from cord blood	blood
12	chr20:23375000-23380200	Weak transcription	GM12878-XiMat	blood
13	chr20:23375000-23389800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr20:23375200-23378400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr20:23375200-23380200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr20:23375200-23381600	Weak transcription	Fetal Intestine Small	intestine
17	chr20:23375400-23381200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr20:23375600-23378600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr20:23375600-23381600	Weak transcription	Fetal Thymus	thymus
20	chr20:23375600-23381800	Weak transcription	Gastric	stomach
21	chr20:23375600-23384400	Weak transcription	Fetal Lung	lung
22	chr20:23375600-23384600	Weak transcription	Brain Germinal Matrix	brain
23	chr20:23375600-23390600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr20:23375600-23396800	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr20:23375600-23400000	Weak transcription	Rectal Smooth Muscle	rectum
26	chr20:23375800-23378400	Weak transcription	NHDF-Ad	bronchial
27	chr20:23375800-23378600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr20:23375800-23379000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr20:23375800-23381600	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr20:23375800-23382800	Weak transcription	Duodenum Mucosa	Duodenum
31	chr20:23375800-23383800	Weak transcription	Colonic Mucosa	Colon
32	chr20:23375800-23384600	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr20:23375800-23384600	Weak transcription	HMEC	breast
34	chr20:23375800-23385000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr20:23375800-23386800	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr20:23375800-23387600	Weak transcription	K562	blood
37	chr20:23375800-23388200	Weak transcription	Small Intestine	intestine
38	chr20:23375800-23388600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
39	chr20:23375800-23396200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr20:23375800-23400000	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr20:23375800-23400200	Weak transcription	Fetal Brain Male	brain
42	chr20:23376000-23378400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr20:23376000-23380000	Weak transcription	Lung	lung
44	chr20:23376000-23380000	Weak transcription	Thymus	Thymus
45	chr20:23376000-23380200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
46	chr20:23376000-23380200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr20:23376000-23380200	Weak transcription	HSMMtube	muscle
48	chr20:23376000-23380600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr20:23376000-23381200	Weak transcription	Fetal Brain Female	brain
50	chr20:23376000-23381400	Weak transcription	Primary B cells from peripheral blood	blood

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