Variant report

Variant	rs2249943
Chromosome Location	chr20:23378098-23378099
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr20:23376182..23378262-chr20:23379017..23380696,2	K562	blood:
2	chr20:23377748..23380107-chr20:23380413..23383027,2	MCF-7	breast:
3	chr20:23365990..23367879-chr20:23377363..23380103,2	MCF-7	breast:
4	chr20:23336291..23339016-chr20:23377494..23379977,2	K562	blood:

Variant related genes	Relation type
ENSG00000232645	Chromatin interaction

Extended variants
information (count: 88 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:88)

rs_ID	r²[population]
rs1056394	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11087428	0.87[EUR][1000 genomes]
rs11905630	0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1419005	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1419006	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1419009	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1419010	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16985308	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1936013	1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2051093	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2144381	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2224074	1.00[YRI][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2236022	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2251145	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2252824	1.00[YRI][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2275787	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2275788	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2281429	1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2405127	0.86[AFR][1000 genomes]
rs2424528	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2424530	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2424531	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2424532	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2424534	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2424535	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2424536	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2424537	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2424539	1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2424540	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2424541	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2424544	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2424545	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2424546	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2424548	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2424549	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2424550	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2424551	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2424552	1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2424554	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2424556	0.88[EUR][1000 genomes]
rs2424557	0.87[EUR][1000 genomes]
rs2424560	0.86[AFR][1000 genomes]
rs3746734	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4813490	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4813491	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4813493	1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4813495	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4815199	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4815203	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6048778	0.98[ASN][1000 genomes]
rs6076057	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6076059	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6076071	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6076073	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6083083	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6083084	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6083085	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6083087	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6083088	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6083092	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6083095	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6083099	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6083100	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6083104	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6083110	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6083111	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6083119	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6114085	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6132604	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6132607	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6132612	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6137899	0.81[AMR][1000 genomes]
rs6137905	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6137908	1.00[YRI][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6137909	1.00[YRI][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6137922	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6137924	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6137934	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6137940	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6137949	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7269627	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs743022	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs743023	1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs743024	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs761726	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7988	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8118688	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs8183442	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs2249943	NAPB	cis	Artery Tibial	GTEx
rs2249943	NAPB	cis	Skin Sun Exposed Lower leg	GTEx
rs2249943	NAPB	Cis_1M	lymphoblastoid	RTeQTL
rs2249943	NAPB	cis	Esophagus Muscularis	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	chr20:23353000-23378200	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr20:23354400-23389000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr20:23354400-23399800	Weak transcription	Hela-S3	cervix
6	chr20:23361200-23399600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr20:23366800-23382400	Strong transcription	Dnd41	blood
8	chr20:23367000-23378200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr20:23367800-23380400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
10	chr20:23372400-23378600	Strong transcription	Primary T helper cells fromperipheralblood	blood
11	chr20:23372800-23400800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr20:23373400-23378400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
13	chr20:23374000-23379000	Strong transcription	Primary B cells from cord blood	blood
14	chr20:23375000-23380200	Weak transcription	GM12878-XiMat	blood
15	chr20:23375000-23389800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr20:23375200-23378400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr20:23375200-23380200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr20:23375200-23381600	Weak transcription	Fetal Intestine Small	intestine
19	chr20:23375400-23381200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr20:23375600-23378600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr20:23375600-23381600	Weak transcription	Fetal Thymus	thymus
22	chr20:23375600-23381800	Weak transcription	Gastric	stomach
23	chr20:23375600-23384400	Weak transcription	Fetal Lung	lung
24	chr20:23375600-23384600	Weak transcription	Brain Germinal Matrix	brain
25	chr20:23375600-23390600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr20:23375600-23396800	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr20:23375600-23400000	Weak transcription	Rectal Smooth Muscle	rectum
28	chr20:23375800-23378400	Weak transcription	NHDF-Ad	bronchial
29	chr20:23375800-23378600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr20:23375800-23379000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr20:23375800-23381600	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr20:23375800-23382800	Weak transcription	Duodenum Mucosa	Duodenum
33	chr20:23375800-23383800	Weak transcription	Colonic Mucosa	Colon
34	chr20:23375800-23384600	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr20:23375800-23384600	Weak transcription	HMEC	breast
36	chr20:23375800-23385000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr20:23375800-23386800	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr20:23375800-23387600	Weak transcription	K562	blood
39	chr20:23375800-23388200	Weak transcription	Small Intestine	intestine
40	chr20:23375800-23388600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
41	chr20:23375800-23396200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr20:23375800-23400000	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr20:23375800-23400200	Weak transcription	Fetal Brain Male	brain
44	chr20:23376000-23378400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr20:23376000-23380000	Weak transcription	Lung	lung
46	chr20:23376000-23380000	Weak transcription	Thymus	Thymus
47	chr20:23376000-23380200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr20:23376000-23380200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr20:23376000-23380200	Weak transcription	HSMMtube	muscle
50	chr20:23376000-23380600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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