Variant report

Variant	rs4482697
Chromosome Location	chr3:121536497-121536498
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:121535928..121538474-chr3:121548099..121550812,2	K562	blood:

Extended variants
information (count: 38 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10804555	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11720061	0.84[ASN][1000 genomes]
rs12489511	0.83[MEX][hapmap];0.80[AMR][1000 genomes]
rs12490565	0.83[MEX][hapmap]
rs12492973	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12497453	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13060770	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1881995	0.85[CHD][hapmap];0.80[GIH][hapmap];0.85[ASN][1000 genomes]
rs1920294	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2331963	1.00[ASW][hapmap];1.00[CEU][hapmap];0.93[CHB][hapmap];0.92[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];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34358795	0.84[ASN][1000 genomes]
rs34920680	0.80[AMR][1000 genomes]
rs4234145	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];0.95[MEX][hapmap];0.97[TSI][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4259001	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4431155	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4472078	0.92[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];0.91[MEX][hapmap];0.97[TSI][hapmap];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4505751	1.00[CEU][hapmap];0.93[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4676757	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62268784	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62268786	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62268808	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6438651	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6763227	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6767945	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6770719	0.83[MEX][hapmap]
rs6774539	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6776596	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7340674	0.92[JPT][hapmap]
rs7646523	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9289180	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv591396	chr3:120970900-121557533	Strong transcription Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv432480	chr3:121355723-121629928	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv432482	chr3:121364236-121629634	Weak transcription ZNF genes & repeats Strong transcription Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	nsv432481	chr3:121364236-121637178	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
5	nsv516233	chr3:121419301-121670405	Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
6	nsv877383	chr3:121465220-121650736	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
7	nsv432483	chr3:121488995-121629634	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
8	esv33139	chr3:121500400-122091831	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs4482697	IQCB1	cis	lymphoblastoid	seeQTL
rs4482697	SLC15A2	cis	cerebellum	SCAN
rs4482697	EAF2	cis	lymphoblastoid	seeQTL
rs4482697	GSK3B	cis	cerebellum	SCAN
rs4482697	SLC15A2	cis	parietal	SCAN
rs4482697	EAF2	Cis_1M	lymphoblastoid	RTeQTL
rs4482697	ADPRH	cis	parietal	SCAN

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:121491600-121552600	Weak transcription	NHLF	lung
2	chr3:121494200-121544200	Weak transcription	Fetal Brain Male	brain
3	chr3:121500200-121541400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr3:121507000-121545400	Weak transcription	Fetal Heart	heart
5	chr3:121508600-121541400	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr3:121522400-121536600	Weak transcription	Fetal Kidney	kidney
7	chr3:121524400-121536600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr3:121524800-121541400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr3:121526000-121542800	Weak transcription	NH-A	brain
10	chr3:121526200-121540000	Weak transcription	NHDF-Ad	bronchial
11	chr3:121528000-121553000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr3:121528600-121537200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr3:121530600-121536800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr3:121530800-121536600	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr3:121530800-121537600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr3:121530800-121541200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr3:121530800-121543200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr3:121530800-121552200	Weak transcription	Small Intestine	intestine
19	chr3:121530800-121552400	Weak transcription	Brain Cingulate Gyrus	brain
20	chr3:121530800-121552800	Weak transcription	HSMMtube	muscle
21	chr3:121530800-121553000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr3:121530800-121553200	Weak transcription	Esophagus	oesophagus
23	chr3:121531000-121536600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr3:121531000-121536600	Weak transcription	Lung	lung
25	chr3:121531000-121536600	Weak transcription	Ovary	ovary
26	chr3:121531000-121536600	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr3:121531000-121536600	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr3:121531000-121538200	Weak transcription	Gastric	stomach
29	chr3:121531000-121540600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr3:121531000-121540800	Weak transcription	Aorta	Aorta
31	chr3:121531000-121542800	Weak transcription	Brain Hippocampus Middle	brain
32	chr3:121531000-121543000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr3:121531000-121552800	Weak transcription	Fetal Stomach	stomach
34	chr3:121531000-121552800	Weak transcription	Pancreas	Pancrea
35	chr3:121531000-121552800	Weak transcription	Right Ventricle	heart
36	chr3:121531000-121552800	Weak transcription	Spleen	Spleen
37	chr3:121531200-121536600	Weak transcription	Colonic Mucosa	Colon
38	chr3:121531200-121536600	Weak transcription	HepG2	liver
39	chr3:121531200-121549600	Weak transcription	Brain Angular Gyrus	brain
40	chr3:121531400-121536600	Weak transcription	Primary T cells fromperipheralblood	blood
41	chr3:121531400-121536600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr3:121531400-121536600	Weak transcription	Stomach Smooth Muscle	stomach
43	chr3:121531800-121536600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr3:121532000-121540000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
45	chr3:121533800-121537200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr3:121534200-121544600	Weak transcription	Brain Substantia Nigra	brain
47	chr3:121534400-121542000	Weak transcription	Pancreatic Islets	Pancreatic Islet
48	chr3:121535000-121541400	Strong transcription	Primary B cells from cord blood	blood
49	chr3:121535400-121536600	Strong transcription	Primary B cells from peripheral blood	blood
50	chr3:121535400-121536600	Strong transcription	Primary T cells from cord blood	blood

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