Variant report

Variant	rs324682
Chromosome Location	chr4:76740008-76740009
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	chr4:76593006..76595820-chr4:76737546..76740383,2	K562	blood:

Extended variants
information (count: 82 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:80)

rs_ID	r²[population]
rs10009902	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10010519	0.81[AMR][1000 genomes]
rs10014281	0.84[CEU][hapmap];0.82[CHB][hapmap];0.82[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.81[TSI][hapmap];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10025315	0.83[AMR][1000 genomes]
rs10028884	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10029110	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11097070	0.82[CHB][hapmap];0.80[AMR][1000 genomes]
rs11729258	0.84[CEU][hapmap];0.82[CHB][hapmap];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11736474	0.82[CHB][hapmap]
rs13118426	0.80[AMR][1000 genomes]
rs13119659	0.93[ASN][1000 genomes]
rs13137468	0.80[AMR][1000 genomes]
rs13138717	0.80[AMR][1000 genomes]
rs1553984	1.00[JPT][hapmap];0.87[AMR][1000 genomes]
rs1553986	0.80[AMR][1000 genomes]
rs17220803	1.00[ASW][hapmap]
rs1967495	0.82[CHB][hapmap];0.80[AMR][1000 genomes]
rs1967496	0.82[CHB][hapmap];0.80[AMR][1000 genomes]
rs226416	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2280095	0.82[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2869174	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs324683	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs324685	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs324689	1.00[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];0.82[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.90[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs324692	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs324695	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs324707	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs324708	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs324711	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs324715	0.92[CEU][hapmap];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs324716	1.00[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];0.82[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.90[TSI][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs324717	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs324718	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs324721	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs324724	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs324725	0.92[CEU][hapmap];1.00[CHB][hapmap];0.82[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.80[MKK][hapmap];0.90[TSI][hapmap];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs324737	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34385808	0.91[EUR][1000 genomes]
rs3796473	0.82[CHB][hapmap]
rs3796485	0.80[AMR][1000 genomes]
rs3853183	1.00[ASW][hapmap];0.82[CHB][hapmap];0.86[MEX][hapmap];0.87[AMR][1000 genomes]
rs3853184	1.00[ASW][hapmap];0.91[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.90[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3942252	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4349625	0.80[AMR][1000 genomes]
rs436611	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs443952	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4859403	0.80[AMR][1000 genomes]
rs4859543	0.82[CHB][hapmap]
rs4859545	0.80[AMR][1000 genomes]
rs4859546	0.80[AMR][1000 genomes]
rs4859547	0.80[AMR][1000 genomes]
rs4859548	0.82[CHB][hapmap];0.80[AMR][1000 genomes]
rs4859550	0.84[CEU][hapmap];0.82[CHB][hapmap];0.82[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];0.81[TSI][hapmap];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs5020591	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6419115	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6531866	0.80[AMR][1000 genomes]
rs6531868	0.80[AMR][1000 genomes]
rs6531889	1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6531902	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6531903	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs67474106	0.89[EUR][1000 genomes]
rs6826858	0.82[CHB][hapmap];0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6827809	1.00[CHB][hapmap]
rs6835819	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6842216	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6855321	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72651313	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7356270	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7356310	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7657871	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7659408	0.80[AMR][1000 genomes]
rs7662940	0.82[CHB][hapmap];0.82[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.81[TSI][hapmap];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7672378	0.80[AMR][1000 genomes]
rs7674063	0.92[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7677150	0.84[CEU][hapmap];0.82[CHB][hapmap];0.81[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7691385	0.84[CEU][hapmap];0.82[CHB][hapmap];0.82[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];0.81[TSI][hapmap];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7691765	0.80[AMR][1000 genomes]
rs7696241	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7698393	0.82[EUR][1000 genomes]
rs9942164	0.83[AMR][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	esv3353539	chr4:76530136-76993859	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv529613	chr4:76654941-77081576	Flanking Active TSS Weak transcription Genic enhancers Strong transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs324682	PPEF2	cis	parietal	SCAN

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:76736200-76743400	Weak transcription	Fetal Brain Male	brain
2	chr4:76736400-76742200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr4:76736400-76743600	Weak transcription	Colon Smooth Muscle	Colon
4	chr4:76736400-76744800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr4:76736600-76741200	Weak transcription	Aorta	Aorta
6	chr4:76736600-76741400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr4:76736600-76741400	Weak transcription	HepG2	liver
8	chr4:76736600-76742000	Weak transcription	Esophagus	oesophagus
9	chr4:76736600-76743400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr4:76736600-76743600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr4:76736600-76743600	Weak transcription	Gastric	stomach
12	chr4:76736600-76744600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr4:76736600-76763200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr4:76736800-76740200	Weak transcription	Brain Substantia Nigra	brain
15	chr4:76736800-76740200	Weak transcription	HUVEC	blood vessel
16	chr4:76736800-76740600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr4:76736800-76741200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr4:76736800-76742400	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr4:76736800-76742400	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr4:76736800-76742400	Weak transcription	HMEC	breast
21	chr4:76736800-76743400	Weak transcription	Fetal Heart	heart
22	chr4:76736800-76743400	Weak transcription	Left Ventricle	heart
23	chr4:76736800-76745000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr4:76736800-76745000	Weak transcription	Ovary	ovary
25	chr4:76736800-76745000	Weak transcription	K562	blood
26	chr4:76736800-76746400	Weak transcription	Brain Anterior Caudate	brain
27	chr4:76736800-76753000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr4:76737000-76740400	Weak transcription	Primary monocytes fromperipheralblood	blood
29	chr4:76737000-76740400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr4:76737000-76741000	Weak transcription	Fetal Brain Female	brain
31	chr4:76737000-76741800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr4:76737000-76745200	Weak transcription	Fetal Lung	lung
33	chr4:76737000-76753000	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr4:76737200-76743800	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr4:76737400-76741400	Weak transcription	Adipose Nuclei	Adipose
36	chr4:76737400-76745000	Weak transcription	Fetal Intestine Small	intestine
37	chr4:76737600-76751000	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr4:76738000-76743200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr4:76738000-76743400	Weak transcription	Lung	lung
40	chr4:76738200-76740400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr4:76738200-76740600	Weak transcription	Primary T cells fromperipheralblood	blood
42	chr4:76738200-76741200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr4:76738200-76743200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr4:76738200-76743200	Weak transcription	A549	lung
45	chr4:76738200-76743600	Weak transcription	HSMM	muscle
46	chr4:76738200-76745000	Weak transcription	HSMMtube	muscle
47	chr4:76738200-76745200	Weak transcription	Osteobl	bone
48	chr4:76738200-76748400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr4:76738200-76753000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
50	chr4:76738400-76741000	Weak transcription	Fetal Muscle Leg	muscle

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