Variant report

Variant	rs7181772
Chromosome Location	chr15:44760172-44760173
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:44752993..44755599-chr15:44759460..44761272,2	K562	blood:

Extended variants
information (count: 106 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:97)

rs_ID	r²[population]
rs10152710	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs10162700	0.92[JPT][hapmap]
rs1021800	1.00[TSI][hapmap];0.94[EUR][1000 genomes]
rs10467977	1.00[CEU][hapmap];0.90[AFR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12324710	1.00[CHB][hapmap];0.87[CHD][hapmap];0.82[JPT][hapmap]
rs12591178	1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs12591581	0.94[EUR][1000 genomes]
rs12591811	0.94[EUR][1000 genomes]
rs12592995	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12593125	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12593325	0.94[EUR][1000 genomes]
rs12593686	0.94[EUR][1000 genomes]
rs12593943	0.94[EUR][1000 genomes]
rs12594110	1.00[TSI][hapmap];0.94[EUR][1000 genomes]
rs12594139	0.94[EUR][1000 genomes]
rs12594167	1.00[ASW][hapmap];0.81[CHD][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12594621	0.94[EUR][1000 genomes]
rs12594645	1.00[JPT][hapmap];0.94[EUR][1000 genomes]
rs12594746	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12594905	0.81[ASW][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.92[JPT][hapmap];0.90[LWK][hapmap];0.82[MEX][hapmap];0.90[YRI][hapmap]
rs12595484	1.00[JPT][hapmap];0.94[EUR][1000 genomes]
rs12595838	0.81[CHD][hapmap];0.92[JPT][hapmap]
rs17551416	0.94[EUR][1000 genomes]
rs2055061	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2288341	1.00[CEU][hapmap];1.00[TSI][hapmap];0.94[EUR][1000 genomes]
rs2288342	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2303577	1.00[CEU][hapmap];1.00[TSI][hapmap];0.94[EUR][1000 genomes]
rs2303578	0.87[EUR][1000 genomes]
rs2412883	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2412908	1.00[MEX][hapmap]
rs2412909	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2433350	0.87[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2555353	1.00[ASW][hapmap];0.83[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];0.95[LWK][hapmap];1.00[MKK][hapmap];0.95[YRI][hapmap];0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2556562	0.87[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs2556566	0.93[ASW][hapmap];0.91[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2556567	1.00[CEU][hapmap];0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28508235	0.94[EUR][1000 genomes]
rs28561508	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2899113	0.94[EUR][1000 genomes]
rs35555389	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3784565	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3784567	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3809471	1.00[ASW][hapmap];0.81[CHD][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs3816928	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3986142	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3986143	0.92[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];0.92[JPT][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4146283	0.82[ASW][hapmap];0.90[LWK][hapmap];0.82[MKK][hapmap];0.90[YRI][hapmap]
rs4415978	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4477677	1.00[ASW][hapmap];1.00[CEU][hapmap];0.81[CHD][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs4577056	1.00[ASW][hapmap];0.81[CHD][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs57270586	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58956090	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs59230801	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59997416	0.94[EUR][1000 genomes]
rs60003667	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs60399672	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61185650	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61234123	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61258861	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61278540	0.94[EUR][1000 genomes]
rs61329003	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61501839	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6493103	1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs7162671	0.92[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs7162802	1.00[JPT][hapmap];0.94[EUR][1000 genomes]
rs7163287	0.82[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs7163529	0.94[EUR][1000 genomes]
rs7164709	0.87[ASW][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];0.88[MKK][hapmap];0.90[YRI][hapmap];0.94[EUR][1000 genomes]
rs7166278	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7166945	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7167752	1.00[JPT][hapmap];0.94[EUR][1000 genomes]
rs7167870	0.92[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7169333	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7170248	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7172106	0.87[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7175200	0.94[EUR][1000 genomes]
rs7178318	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7179390	1.00[CHB][hapmap];0.92[JPT][hapmap];0.90[YRI][hapmap]
rs7179894	1.00[JPT][hapmap];0.94[EUR][1000 genomes]
rs7183109	0.83[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs8023453	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8024623	0.94[EUR][1000 genomes]
rs8024805	0.94[EUR][1000 genomes]
rs8025727	1.00[JPT][hapmap];0.90[YRI][hapmap];0.94[EUR][1000 genomes]
rs8025876	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8025955	0.81[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs8026945	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8027036	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8028509	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8028907	1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs8032079	1.00[CEU][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.94[EUR][1000 genomes]
rs8037395	1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs883943	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9672237	0.87[ASW][hapmap];0.92[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9673085	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9806511	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs9806725	0.82[ASW][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];0.87[MKK][hapmap];0.90[YRI][hapmap];0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv431387	chr15:43929378-44862930	Weak transcription Strong transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	158 gene(s)	inside rSNPs	diseases
2	nsv931051	chr15:43988761-44833518	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	154 gene(s)	inside rSNPs	diseases
3	esv3410956	chr15:44425145-44823647	Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv904177	chr15:44582886-44821843	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	nsv569299	chr15:44598642-44776075	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
6	nsv569300	chr15:44609796-44763598	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
7	nsv904179	chr15:44614684-44821843	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
8	esv3386433	chr15:44654644-45037538	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	135 gene(s)	inside rSNPs	diseases
9	esv3429957	chr15:44743709-44775347	Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Active TSS	TF binding region Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7181772	EIF3J	cis	lymphoblastoid	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:44721000-44828000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr15:44722800-44760600	Weak transcription	Small Intestine	intestine
3	chr15:44728800-44760600	Weak transcription	NHEK	skin
4	chr15:44733600-44760600	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr15:44733800-44779000	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr15:44735600-44779400	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr15:44740400-44777400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr15:44740600-44779000	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr15:44740600-44779000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr15:44740600-44795600	Weak transcription	Esophagus	oesophagus
11	chr15:44740600-44824600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr15:44740800-44764800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr15:44740800-44779000	Weak transcription	Aorta	Aorta
14	chr15:44740800-44779000	Weak transcription	Spleen	Spleen
15	chr15:44741000-44783800	Weak transcription	Right Ventricle	heart
16	chr15:44744800-44778400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr15:44750000-44827400	Weak transcription	Pancreas	Pancrea
18	chr15:44750200-44779000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr15:44750200-44828000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr15:44750400-44782800	Weak transcription	Brain Cingulate Gyrus	brain
21	chr15:44750600-44760800	Weak transcription	NHDF-Ad	bronchial
22	chr15:44750600-44760800	Weak transcription	Osteobl	bone
23	chr15:44750600-44779000	Weak transcription	Rectal Smooth Muscle	rectum
24	chr15:44750600-44781400	Weak transcription	A549	lung
25	chr15:44751000-44761200	Weak transcription	Fetal Brain Male	brain
26	chr15:44751000-44795400	Weak transcription	Stomach Mucosa	stomach
27	chr15:44752600-44761200	Weak transcription	Primary neutrophils fromperipheralblood	blood
28	chr15:44754600-44760800	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr15:44754600-44760800	Weak transcription	HMEC	breast
30	chr15:44754600-44779600	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr15:44754600-44781400	Weak transcription	Brain Substantia Nigra	brain
32	chr15:44754600-44816200	Weak transcription	Brain Angular Gyrus	brain
33	chr15:44754800-44760800	Weak transcription	NHLF	lung
34	chr15:44754800-44766000	Weak transcription	Left Ventricle	heart
35	chr15:44754800-44772400	Weak transcription	Gastric	stomach
36	chr15:44754800-44779400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr15:44755000-44762600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr15:44755000-44776200	Weak transcription	HepG2	liver
39	chr15:44756200-44760800	Weak transcription	HUVEC	blood vessel
40	chr15:44756600-44761000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
41	chr15:44756600-44768800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr15:44756800-44763800	Weak transcription	Brain Germinal Matrix	brain
43	chr15:44756800-44779400	Weak transcription	K562	blood
44	chr15:44757000-44760600	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr15:44757000-44760600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
46	chr15:44757000-44760600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr15:44757000-44760800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr15:44757000-44760800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr15:44757000-44760800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr15:44757000-44760800	Weak transcription	Rectal Mucosa Donor 31	rectum

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