Variant report

Variant	rs4737974
Chromosome Location	chr8:54739072-54739073
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	chr8:54736720..54739090-chr8:54754502..54756079,2	K562	blood:

Variant related genes	Relation type
ENSG00000047249	Chromatin interaction

Extended variants
information (count: 83 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:81)

rs_ID	r²[population]
rs1031979	1.00[CEU][hapmap];0.91[MEX][hapmap];0.90[EUR][1000 genomes]
rs1031980	1.00[CEU][hapmap];0.91[MEX][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10435587	1.00[CEU][hapmap];0.91[MEX][hapmap];0.84[EUR][1000 genomes]
rs11996300	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12056486	0.80[EUR][1000 genomes]
rs12056719	1.00[CEU][hapmap];0.91[MEX][hapmap];0.89[EUR][1000 genomes]
rs12115070	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12234972	0.93[ASW][hapmap];0.85[CEU][hapmap];0.97[EUR][1000 genomes]
rs1552148	0.93[ASW][hapmap];1.00[CEU][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.97[EUR][1000 genomes]
rs16919507	1.00[CEU][hapmap];0.86[CHB][hapmap];0.82[JPT][hapmap];0.91[MEX][hapmap];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs16919508	1.00[CEU][hapmap];0.86[CHB][hapmap];0.86[JPT][hapmap];0.91[MEX][hapmap];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs16919522	1.00[CEU][hapmap];0.91[MEX][hapmap];0.83[EUR][1000 genomes]
rs16919534	1.00[CEU][hapmap];0.82[MEX][hapmap];0.81[EUR][1000 genomes]
rs16919537	1.00[CEU][hapmap]
rs16919541	1.00[CEU][hapmap]
rs16919563	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs16919571	1.00[CEU][hapmap];1.00[MEX][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs16919573	1.00[CEU][hapmap];0.91[MEX][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1872063	1.00[CEU][hapmap];0.90[MEX][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1905061	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs2128150	1.00[CEU][hapmap];0.91[MEX][hapmap];0.83[EUR][1000 genomes]
rs2170444	1.00[CEU][hapmap];0.91[MEX][hapmap];0.85[EUR][1000 genomes]
rs2376011	1.00[CEU][hapmap];0.91[MEX][hapmap];0.81[EUR][1000 genomes]
rs3735831	0.93[ASW][hapmap];1.00[CEU][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.97[EUR][1000 genomes]
rs3757954	0.92[EUR][1000 genomes]
rs3824121	0.83[GIH][hapmap];0.82[YRI][hapmap]
rs41321146	1.00[CEU][hapmap];0.91[MEX][hapmap];0.84[EUR][1000 genomes]
rs4236945	1.00[CEU][hapmap];0.91[MEX][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4737192	1.00[CEU][hapmap];0.91[MEX][hapmap];0.90[EUR][1000 genomes]
rs4737518	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4737554	1.00[CEU][hapmap];0.91[MEX][hapmap]
rs4737558	1.00[CEU][hapmap];0.91[MEX][hapmap]
rs4737753	0.91[CHB][hapmap];0.95[CHD][hapmap];0.94[GIH][hapmap];0.91[JPT][hapmap];0.91[MEX][hapmap];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4737761	0.85[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4737764	1.00[CEU][hapmap];0.91[MEX][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4737765	1.00[CEU][hapmap];0.91[MEX][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4737821	1.00[ASW][hapmap];1.00[CEU][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4738025	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.82[YRI][hapmap];0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4738027	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4738701	1.00[CEU][hapmap];0.86[CHB][hapmap];0.86[JPT][hapmap];0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs4738884	1.00[CEU][hapmap];0.91[MEX][hapmap]
rs4738916	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs55682919	0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs56956173	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56973376	0.83[EUR][1000 genomes]
rs57071607	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs57550901	0.80[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs58558817	0.84[EUR][1000 genomes]
rs58970885	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6473893	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6473894	0.83[GIH][hapmap]
rs6984257	1.00[CEU][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6986372	0.85[CEU][hapmap];0.91[MEX][hapmap];0.82[EUR][1000 genomes]
rs6987427	1.00[CEU][hapmap];0.91[MEX][hapmap];0.83[EUR][1000 genomes]
rs6988009	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs6988082	1.00[CEU][hapmap];0.86[CHB][hapmap];0.86[JPT][hapmap];0.91[MEX][hapmap];0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs6988808	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.83[GIH][hapmap];0.95[JPT][hapmap];0.91[MEX][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6988812	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6994851	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6997003	1.00[CEU][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6997127	1.00[CEU][hapmap];1.00[MEX][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6998532	0.81[YRI][hapmap]
rs6999454	1.00[CEU][hapmap];0.91[MEX][hapmap];0.83[EUR][1000 genomes]
rs7005696	1.00[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7006934	0.85[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.87[ASN][1000 genomes]
rs7009705	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7018162	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs73680316	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73680321	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73682549	0.83[EUR][1000 genomes]
rs73682551	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73682552	0.81[ASN][1000 genomes]
rs73682555	0.83[EUR][1000 genomes]
rs73682568	0.88[EUR][1000 genomes]
rs73682570	0.97[EUR][1000 genomes]
rs7843701	1.00[CEU][hapmap];0.91[MEX][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs900163	1.00[CEU][hapmap];0.91[MEX][hapmap];0.83[EUR][1000 genomes]
rs958268	1.00[CEU][hapmap];0.86[CHB][hapmap];0.82[JPT][hapmap];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9643480	0.84[EUR][1000 genomes]
rs9643819	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9643820	1.00[CEU][hapmap];1.00[YRI][hapmap];0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021775	chr8:54631303-54827173	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv539621	chr8:54631303-54827173	Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4737974	TCEA1	cis	lymphoblastoid	seeQTL
rs4737974	LYPLA1	cis	lymphoblastoid	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:54686400-54745800	Weak transcription	Psoas Muscle	Psoas
2	chr8:54687600-54753600	Weak transcription	A549	lung
3	chr8:54700000-54740400	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr8:54707800-54740400	Weak transcription	K562	blood
5	chr8:54709000-54740800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr8:54710200-54755000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr8:54713000-54750000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr8:54713200-54740200	Weak transcription	Brain Hippocampus Middle	brain
9	chr8:54714200-54740600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr8:54714600-54754000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr8:54720000-54745800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr8:54720200-54740400	Weak transcription	Fetal Heart	heart
13	chr8:54720600-54752400	Weak transcription	Small Intestine	intestine
14	chr8:54721800-54740400	Weak transcription	Fetal Brain Male	brain
15	chr8:54722800-54740400	Weak transcription	Brain Angular Gyrus	brain
16	chr8:54724800-54754800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr8:54725800-54739400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr8:54726800-54739200	Weak transcription	Colonic Mucosa	Colon
19	chr8:54726800-54740200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr8:54727000-54739200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr8:54727000-54739200	Weak transcription	Pancreas	Pancrea
22	chr8:54727000-54739400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr8:54727000-54740200	Weak transcription	Brain Cingulate Gyrus	brain
24	chr8:54727000-54740200	Weak transcription	Rectal Smooth Muscle	rectum
25	chr8:54727000-54740200	Weak transcription	Right Ventricle	heart
26	chr8:54727000-54740400	Weak transcription	Aorta	Aorta
27	chr8:54727000-54740600	Weak transcription	Esophagus	oesophagus
28	chr8:54727000-54741400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr8:54727000-54745600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr8:54727000-54745800	Weak transcription	Gastric	stomach
31	chr8:54727200-54739200	Weak transcription	Brain Germinal Matrix	brain
32	chr8:54727200-54740000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr8:54727200-54740600	Weak transcription	Fetal Lung	lung
34	chr8:54727200-54740800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr8:54727400-54740600	Weak transcription	NHDF-Ad	bronchial
36	chr8:54728200-54752200	Weak transcription	Stomach Mucosa	stomach
37	chr8:54728400-54740000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
38	chr8:54728600-54740200	Weak transcription	Pancreatic Islets	Pancreatic Islet
39	chr8:54728600-54740600	Weak transcription	Placenta Amnion	Placenta Amnion
40	chr8:54729600-54740000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr8:54729600-54740400	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr8:54729800-54739200	Weak transcription	Lung	lung
43	chr8:54729800-54740800	Weak transcription	Fetal Kidney	kidney
44	chr8:54730000-54739200	Weak transcription	Fetal Stomach	stomach
45	chr8:54730200-54739200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr8:54730200-54740400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr8:54730400-54739200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr8:54730400-54739200	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr8:54730400-54739400	Weak transcription	Spleen	Spleen
50	chr8:54730600-54739200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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