Variant report

Variant	rs2467392
Chromosome Location	chr11:34169879-34169880
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:34157193..34160201-chr11:34169377..34172451,3	K562	blood:
2	chr11:34055302..34057651-chr11:34168672..34170697,2	K562	blood:
3	chr11:34157193..34160201-chr11:34169377..34173390,4	K562	blood:
4	chr11:34150828..34152379-chr11:34169047..34171261,2	K562	blood:
5	chr11:34169201..34171584-chr11:34378807..34380601,2	MCF-7	breast:
6	chr11:34168479..34170177-chr11:34180992..34182868,2	K562	blood:

Variant related genes	Relation type
ENSG00000166016	Chromatin interaction

Extended variants
information (count: 110 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:110)

rs_ID	r²[population]
rs10047428	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs10047487	0.86[EUR][1000 genomes]
rs10501132	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs10501133	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10836150	0.89[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.83[TSI][hapmap]
rs11552143	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs16925114	1.00[CEU][hapmap];1.00[GIH][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs16925115	1.00[CEU][hapmap];0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs16925121	1.00[CEU][hapmap];0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs16925126	1.00[CEU][hapmap];0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs16925134	1.00[CEU][hapmap];0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs16925147	1.00[CEU][hapmap];0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs16925153	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs16925155	1.00[CEU][hapmap];0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs16925160	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs16925163	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs16925167	1.00[CEU][hapmap];1.00[GIH][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs16925170	1.00[CEU][hapmap];1.00[GIH][hapmap];0.97[LWK][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs16925173	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs16925175	1.00[CEU][hapmap];1.00[GIH][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs16925177	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs16925181	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs16925182	1.00[CEU][hapmap];1.00[GIH][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs16925183	0.93[ASW][hapmap];1.00[CEU][hapmap];0.92[GIH][hapmap];0.97[LWK][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap]
rs16925184	1.00[CEU][hapmap];1.00[GIH][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs16925219	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs16926099	0.81[EUR][1000 genomes]
rs17367679	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17699090	0.81[EUR][1000 genomes]
rs17699505	1.00[CEU][hapmap];0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17699517	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17699883	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17700132	1.00[CEU][hapmap];0.92[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17700360	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17700714	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17700877	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17701015	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17771070	0.91[GIH][hapmap];1.00[MEX][hapmap]
rs17771981	0.81[EUR][1000 genomes]
rs17777885	1.00[CEU][hapmap];0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17777985	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs17778417	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17778759	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1883958	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2004272	0.81[EUR][1000 genomes]
rs2421456	0.81[EUR][1000 genomes]
rs2421457	0.81[EUR][1000 genomes]
rs2421459	0.89[CEU][hapmap];0.91[GIH][hapmap];1.00[MEX][hapmap];0.83[TSI][hapmap]
rs2467393	1.00[CEU][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2473929	1.00[CEU][hapmap];0.92[GIH][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2473932	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2957481	1.00[CEU][hapmap];0.91[YRI][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2957509	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2957514	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs2957518	0.82[GIH][hapmap]
rs2982587	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2982617	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2982619	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.91[YRI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs36117528	0.82[EUR][1000 genomes]
rs4074368	0.81[EUR][1000 genomes]
rs4237663	1.00[CEU][hapmap];0.91[YRI][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4587708	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.86[EUR][1000 genomes]
rs4755357	0.83[EUR][1000 genomes]
rs4755359	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs4756095	1.00[GIH][hapmap];0.83[TSI][hapmap]
rs4756101	0.81[EUR][1000 genomes]
rs4756109	0.90[CEU][hapmap];0.83[EUR][1000 genomes]
rs56693007	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs56696374	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs56973150	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs57330513	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs57492451	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs58755000	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs59158919	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs59249605	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs59359577	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs59518134	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs59650719	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs59972955	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs59978955	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs60015864	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs60494596	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs60549862	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs60700110	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs61171154	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6484694	0.82[EUR][1000 genomes]
rs7104352	0.90[CEU][hapmap]
rs7127581	0.81[EUR][1000 genomes]
rs73497050	0.81[EUR][1000 genomes]
rs73497064	0.81[EUR][1000 genomes]
rs73500434	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73501009	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs73501017	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73501018	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73501023	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73501037	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73501038	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73501048	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73501059	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73501064	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73501065	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73501069	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73501097	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7483997	1.00[CEU][hapmap];0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7925527	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7933297	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7944654	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs7951527	1.00[CEU][hapmap]
rs8191	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs958332	0.90[CEU][hapmap];0.81[EUR][1000 genomes]

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs2467392	NBAS	trans	parietal	SCAN
rs2467392	ABTB2	cis	parietal	SCAN
rs2467392	NAT10	cis	cerebellum	SCAN
rs2467392	NAT10	cis	parietal	SCAN

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:34128600-34173200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
2	chr11:34128600-34176400	Strong transcription	Fetal Stomach	stomach
3	chr11:34128800-34178000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr11:34129000-34170000	Strong transcription	HUES6 Cell Line	embryonic stem cell
5	chr11:34129000-34177400	Strong transcription	Osteobl	bone
6	chr11:34129000-34177800	Strong transcription	HUES48 Cell Line	embryonic stem cell
7	chr11:34129200-34174600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr11:34129200-34177800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr11:34129400-34172600	Strong transcription	Primary T cells fromperipheralblood	blood
10	chr11:34129400-34173400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr11:34129400-34175600	Strong transcription	Fetal Thymus	thymus
12	chr11:34129600-34170600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr11:34129600-34171400	Strong transcription	Fetal Muscle Trunk	muscle
14	chr11:34129600-34171800	Strong transcription	Fetal Muscle Leg	muscle
15	chr11:34129600-34172800	Strong transcription	Primary T helper cells fromperipheralblood	blood
16	chr11:34129600-34175000	Strong transcription	Brain Anterior Caudate	brain
17	chr11:34129600-34177200	Strong transcription	Skeletal Muscle Female	skeletal muscle
18	chr11:34129600-34178200	Strong transcription	Liver	Liver
19	chr11:34129800-34170000	Strong transcription	Rectal Mucosa Donor 31	rectum
20	chr11:34129800-34170000	Strong transcription	NH-A	brain
21	chr11:34129800-34171800	Strong transcription	Duodenum Mucosa	Duodenum
22	chr11:34129800-34172000	Strong transcription	Fetal Intestine Large	intestine
23	chr11:34129800-34172800	Strong transcription	Ovary	ovary
24	chr11:34129800-34173200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr11:34129800-34173200	Strong transcription	Rectal Mucosa Donor 29	rectum
26	chr11:34129800-34175000	Strong transcription	Primary T cells from cord blood	blood
27	chr11:34129800-34175000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr11:34129800-34175600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr11:34130000-34171000	Strong transcription	Duodenum Smooth Muscle	Duodenum
30	chr11:34130000-34172400	Strong transcription	HepG2	liver
31	chr11:34130000-34173600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr11:34130000-34174600	Strong transcription	Dnd41	blood
33	chr11:34130000-34177000	Strong transcription	Sigmoid Colon	Sigmoid Colon
34	chr11:34130000-34181800	Strong transcription	A549	lung
35	chr11:34130200-34172800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr11:34130200-34173200	Strong transcription	Primary T helper cells PMA-I stimulated	--
37	chr11:34130200-34177600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr11:34130400-34170200	Strong transcription	K562	blood
39	chr11:34132000-34171400	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
40	chr11:34136200-34177200	Strong transcription	Adipose Nuclei	Adipose
41	chr11:34136200-34177200	Strong transcription	Skeletal Muscle Male	skeletal muscle
42	chr11:34138800-34185600	Strong transcription	Fetal Brain Female	brain
43	chr11:34143800-34173000	Strong transcription	Hela-S3	cervix
44	chr11:34146200-34187600	Strong transcription	Cortex derived primary cultured neurospheres	brain
45	chr11:34146600-34171400	Strong transcription	Fetal Intestine Small	intestine
46	chr11:34148000-34176200	Strong transcription	Brain Hippocampus Middle	brain
47	chr11:34148600-34172000	Strong transcription	Placenta Amnion	Placenta Amnion
48	chr11:34149000-34172200	Strong transcription	HMEC	breast
49	chr11:34149200-34170800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr11:34149800-34172000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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