Variant report

Variant	rs11944405
Chromosome Location	chr4:100799961-100799962
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:100799743..100801515-chr4:100802024..100804173,2	K562	blood:
2	chr4:100799869..100822436-chr4:100866015..100873106,54	K562	blood:
3	chr4:100799247..100801007-chr4:100870163..100871794,2	MCF-7	breast:
4	chr4:100796548..100800180-chr4:100800813..100805431,5	K562	blood:
5	chr4:100797842..100800668-chr4:100869813..100871834,2	K562	blood:

Variant related genes	Relation type
ENSG00000245322	Chromatin interaction
ENSG00000164032	Chromatin interaction
ENSG00000164031	Chromatin interaction

Extended variants
information (count: 94 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:94)

rs_ID	r²[population]
rs1044044	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10516458	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11097676	0.83[ASW][hapmap];0.85[CEU][hapmap]
rs11097679	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11097680	0.94[ASW][hapmap];0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11097681	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11097682	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11097683	0.82[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs11097685	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs11097686	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11723286	0.94[ASW][hapmap];0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];0.95[TSI][hapmap];0.86[YRI][hapmap];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11736218	0.88[ASW][hapmap];1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11736750	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11931053	0.94[ASW][hapmap];0.82[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];0.95[TSI][hapmap];0.86[YRI][hapmap];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11931551	0.92[ASN][1000 genomes]
rs11932783	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11935458	0.95[CEU][hapmap];0.88[CHB][hapmap];0.92[JPT][hapmap];0.96[YRI][hapmap];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11935615	0.95[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11936309	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11936580	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs11937985	0.94[ASW][hapmap];1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11938952	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11939538	0.82[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11941520	0.82[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.86[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs11941799	0.88[ASW][hapmap];0.95[CEU][hapmap];0.88[CHB][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];0.93[MEX][hapmap];0.89[MKK][hapmap];0.92[TSI][hapmap];0.96[YRI][hapmap];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11944656	0.95[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11945303	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11947295	0.90[CEU][hapmap];0.96[YRI][hapmap];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1365491	0.85[CEU][hapmap]
rs1465518	0.92[JPT][hapmap]
rs1465519	0.89[CEU][hapmap];0.91[JPT][hapmap];0.81[EUR][1000 genomes]
rs17029573	0.94[ASW][hapmap];0.90[CEU][hapmap];0.88[CHB][hapmap];0.88[GIH][hapmap];0.92[JPT][hapmap];0.83[LWK][hapmap];0.93[MEX][hapmap];0.87[MKK][hapmap];0.87[TSI][hapmap];0.86[YRI][hapmap];0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17029662	0.94[CHB][hapmap];0.94[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17029673	0.88[ASW][hapmap];1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17029724	0.91[ASN][1000 genomes]
rs2017707	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2070738	0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2081626	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2081627	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2162386	0.92[JPT][hapmap]
rs2276939	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2866179	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34453741	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3733463	0.83[ASW][hapmap];0.90[CEU][hapmap];0.88[GIH][hapmap];0.92[JPT][hapmap];0.81[TSI][hapmap];0.86[YRI][hapmap];0.81[EUR][1000 genomes]
rs3737484	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];0.93[MEX][hapmap];0.91[MKK][hapmap];0.87[TSI][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3775500	0.83[ASW][hapmap];0.85[CEU][hapmap]
rs3775501	0.83[ASW][hapmap];0.85[CEU][hapmap]
rs3775512	0.84[JPT][hapmap]
rs3822103	0.92[JPT][hapmap]
rs4320141	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4536938	0.91[ASN][1000 genomes]
rs5015717	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs55726736	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55797991	0.89[ASN][1000 genomes]
rs55888547	0.91[ASN][1000 genomes]
rs56007968	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56140620	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs57322716	0.91[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs57798058	0.81[EUR][1000 genomes]
rs58304154	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs58391911	0.83[EUR][1000 genomes]
rs58534089	0.81[EUR][1000 genomes]
rs60070547	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61191235	0.82[ASN][1000 genomes]
rs61203457	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62305038	0.91[ASN][1000 genomes]
rs62306101	0.93[ASN][1000 genomes]
rs6532834	0.94[ASW][hapmap];0.95[CEU][hapmap];0.94[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];0.86[MEX][hapmap];0.89[MKK][hapmap];0.92[TSI][hapmap];0.96[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6532837	0.82[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs6532839	0.91[ASN][1000 genomes]
rs6532840	0.91[ASN][1000 genomes]
rs6813099	0.83[ASW][hapmap];0.90[CEU][hapmap];0.88[GIH][hapmap]
rs6814140	0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs6814181	0.89[ASW][hapmap];0.90[CEU][hapmap];0.81[GIH][hapmap];0.86[JPT][hapmap];0.80[EUR][1000 genomes]
rs6816635	0.88[ASW][hapmap];0.82[CEU][hapmap];0.94[CHB][hapmap];0.94[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.81[MKK][hapmap];0.92[TSI][hapmap];0.86[YRI][hapmap];0.86[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs6817649	0.90[CEU][hapmap];0.85[GIH][hapmap]
rs6824513	0.93[ASN][1000 genomes]
rs6829912	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];0.95[TSI][hapmap];0.96[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6831193	0.92[ASN][1000 genomes]
rs6832726	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6838495	0.91[ASN][1000 genomes]
rs6842840	0.82[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.95[TSI][hapmap];0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs6843247	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6845556	0.88[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs6848666	0.95[CEU][hapmap];0.88[CHB][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.92[TSI][hapmap];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72686215	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs732386	0.91[ASN][1000 genomes]
rs73832925	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7660185	0.93[ASN][1000 genomes]
rs7666156	0.82[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7666640	0.81[EUR][1000 genomes]
rs7686565	0.90[CEU][hapmap];0.92[JPT][hapmap];0.89[YRI][hapmap];0.81[EUR][1000 genomes]
rs7688737	0.82[EUR][1000 genomes]
rs890486	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs11944405	MTTP	cis	lymphoblastoid	seeQTL
rs11944405	DNAJB14	cis	parietal	SCAN
rs11944405	MAPKSP1	cis	cerebellum	SCAN
rs11944405	NFKB1	cis	cerebellum	SCAN
rs11944405	MAPKSP1	cis	parietal	SCAN

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:100761000-100801200	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr4:100777600-100800800	Weak transcription	Thymus	Thymus
3	chr4:100777800-100801000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr4:100778000-100800200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr4:100778400-100800600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr4:100781200-100800800	Weak transcription	Esophagus	oesophagus
7	chr4:100781200-100800800	Weak transcription	Spleen	Spleen
8	chr4:100781200-100801000	Weak transcription	Pancreas	Pancrea
9	chr4:100789600-100800200	Weak transcription	NHLF	lung
10	chr4:100789600-100800600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr4:100789600-100805200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr4:100789600-100814200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr4:100789800-100800000	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr4:100789800-100800000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr4:100789800-100800200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr4:100789800-100800200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr4:100789800-100800200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr4:100789800-100800800	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr4:100789800-100800800	Weak transcription	Ovary	ovary
20	chr4:100789800-100800800	Weak transcription	Psoas Muscle	Psoas
21	chr4:100789800-100801600	Weak transcription	Gastric	stomach
22	chr4:100789800-100805200	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr4:100790400-100814600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr4:100790600-100800800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr4:100792600-100800000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr4:100792600-100800200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr4:100793200-100800800	Weak transcription	NHEK	skin
28	chr4:100793200-100801400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr4:100793600-100800000	Weak transcription	Brain Anterior Caudate	brain
30	chr4:100794600-100801400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr4:100796000-100801000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr4:100796000-100801400	Weak transcription	Small Intestine	intestine
33	chr4:100796200-100800800	Strong transcription	Monocytes-CD14+_RO01746	blood
34	chr4:100796200-100801400	Weak transcription	Fetal Intestine Small	intestine
35	chr4:100796800-100803200	Strong transcription	Primary T cells from cord blood	blood
36	chr4:100797000-100800600	Strong transcription	Primary neutrophils fromperipheralblood	blood
37	chr4:100797000-100809600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr4:100797200-100801000	Weak transcription	Aorta	Aorta
39	chr4:100797400-100800800	Weak transcription	K562	blood
40	chr4:100797600-100800000	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr4:100797600-100800600	Weak transcription	Brain Substantia Nigra	brain
42	chr4:100797600-100800600	Weak transcription	HUVEC	blood vessel
43	chr4:100797600-100801400	Weak transcription	Fetal Stomach	stomach
44	chr4:100797600-100803600	Strong transcription	Brain Hippocampus Middle	brain
45	chr4:100797600-100809000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
46	chr4:100797800-100800000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr4:100797800-100800000	Weak transcription	GM12878-XiMat	blood
48	chr4:100797800-100803400	Strong transcription	Fetal Lung	lung
49	chr4:100797800-100808400	Strong transcription	Adipose Nuclei	Adipose
50	chr4:100798000-100806200	Strong transcription	Primary B cells from peripheral blood	blood

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