Variant report

Variant	rs737911
Chromosome Location	chr22:30399417-30399418
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFK	chr22:30399092-30399456	K562	blood:	n/a	chr22:30399269-30399285 chr22:30399266-30399281 chr22:30399267-30399287 chr22:30399270-30399284 chr22:30399266-30399282 chr22:30399265-30399279
2	MAFF	chr22:30399101-30399462	HepG2	liver:	n/a	chr22:30399270-30399284 chr22:30399264-30399282
3	MAFK	chr22:30398964-30399454	GM12878	blood:	n/a	chr22:30399269-30399285 chr22:30399266-30399281 chr22:30399267-30399287 chr22:30399270-30399284 chr22:30399266-30399282 chr22:30399265-30399279
4	MAFK	chr22:30399111-30399447	Hela-S3	cervix:	n/a	chr22:30399269-30399285 chr22:30399266-30399281 chr22:30399267-30399287 chr22:30399270-30399284 chr22:30399266-30399282 chr22:30399265-30399279
5	MAFK	chr22:30399094-30399461	HepG2	liver:	n/a	chr22:30399269-30399285 chr22:30399266-30399281 chr22:30399267-30399287 chr22:30399270-30399284 chr22:30399266-30399282 chr22:30399265-30399279
6	MAFK	chr22:30399090-30399463	IMR90	lung:	n/a	chr22:30399269-30399285 chr22:30399266-30399281 chr22:30399267-30399287 chr22:30399270-30399284 chr22:30399266-30399282 chr22:30399265-30399279
7	MAFK	chr22:30399089-30399460	HepG2	liver:	n/a	chr22:30399269-30399285 chr22:30399266-30399281 chr22:30399267-30399287 chr22:30399270-30399284 chr22:30399266-30399282 chr22:30399265-30399279
8	MAFF	chr22:30399099-30399458	K562	blood:	n/a	chr22:30399270-30399284 chr22:30399264-30399282
9	MAFK	chr22:30399141-30399445	H1-hESC	embryonic stem cell:	n/a	chr22:30399269-30399285 chr22:30399266-30399281 chr22:30399267-30399287 chr22:30399270-30399284 chr22:30399266-30399282 chr22:30399265-30399279

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:30277721..30280339-chr22:30399364..30402748,3	K562	blood:

Variant related genes	Relation type
MTMR3	TF binding region
ENSG00000100330	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs1076135	0.82[CEU][hapmap]
rs1548389	0.96[CEU][hapmap]
rs1989870	0.96[CEU][hapmap];0.93[TSI][hapmap]
rs2007446	0.96[CEU][hapmap];0.95[TSI][hapmap];0.87[EUR][1000 genomes]
rs2007458	0.89[CEU][hapmap]
rs2074706	0.85[CEU][hapmap]
rs2074707	0.85[CEU][hapmap]
rs2285667	0.86[EUR][1000 genomes]
rs2301402	0.89[CEU][hapmap]
rs3958027	0.86[AFR][1000 genomes]
rs41155	0.83[EUR][1000 genomes]
rs41156	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs41157	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs41161	0.87[EUR][1000 genomes]
rs41165	0.89[CEU][hapmap]
rs41168	0.96[CEU][hapmap];0.94[MEX][hapmap];0.95[TSI][hapmap];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs41170	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs41171	0.96[CEU][hapmap];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs41173	0.96[CEU][hapmap];0.81[EUR][1000 genomes]
rs5752964	0.85[CEU][hapmap];0.82[TSI][hapmap]
rs5752975	0.89[CEU][hapmap]
rs5752978	0.96[CEU][hapmap]
rs5763512	0.85[CEU][hapmap]
rs5763614	0.81[EUR][1000 genomes]
rs5763670	0.85[EUR][1000 genomes]
rs5763775	0.96[CEU][hapmap]
rs5763779	1.00[ASW][hapmap];0.96[CEU][hapmap];0.94[GIH][hapmap];0.82[MEX][hapmap];0.85[MKK][hapmap];0.93[TSI][hapmap];0.93[AFR][1000 genomes]
rs59663694	0.85[EUR][1000 genomes]
rs5997530	0.85[CEU][hapmap]
rs713656	0.89[CEU][hapmap]
rs713657	0.85[CEU][hapmap]
rs73162764	0.84[EUR][1000 genomes]
rs740041	0.85[CEU][hapmap]
rs9306465	0.89[CEU][hapmap]
rs9306468	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs960987	0.82[EUR][1000 genomes]
rs9614077	0.86[AFR][1000 genomes]
rs9614102	0.82[EUR][1000 genomes]
rs997913	0.89[CEU][hapmap]

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	nsv1064081	chr22:29826745-30623965	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv544677	chr22:29826745-30623965	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs737911	KIAA1671	cis	cerebellum	SCAN
rs737911	MTMR3	cis	parietal	SCAN
rs737911	ASCC2	cis	cerebellum	SCAN
rs737911	NEFH	cis	cerebellum	SCAN
rs737911	NIPSNAP1	Cis_1M	lymphoblastoid	RTeQTL
rs737911	RNF185	cis	parietal	SCAN
rs737911	CABP7	cis	cerebellum	SCAN

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30350600-30402600	Weak transcription	Aorta	Aorta
2	chr22:30363400-30427800	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr22:30367000-30426600	Strong transcription	Primary monocytes fromperipheralblood	blood
4	chr22:30375200-30403200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr22:30377600-30402800	Weak transcription	Fetal Brain Male	brain
6	chr22:30384200-30403800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr22:30384400-30404000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr22:30385000-30404000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr22:30386200-30402600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr22:30388600-30400800	Weak transcription	Brain Cingulate Gyrus	brain
11	chr22:30389200-30402600	Weak transcription	Rectal Smooth Muscle	rectum
12	chr22:30389200-30403000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr22:30389200-30404200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr22:30389200-30409200	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr22:30389200-30411600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr22:30389200-30411800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr22:30389800-30400600	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr22:30390200-30403200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr22:30390200-30434200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr22:30390800-30403000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr22:30391200-30402800	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr22:30391200-30411400	Weak transcription	Small Intestine	intestine
23	chr22:30391400-30400800	Weak transcription	HSMMtube	muscle
24	chr22:30391400-30402600	Weak transcription	Ovary	ovary
25	chr22:30391400-30403000	Weak transcription	Pancreas	Pancrea
26	chr22:30391400-30403200	Weak transcription	Psoas Muscle	Psoas
27	chr22:30391400-30403600	Weak transcription	Hela-S3	cervix
28	chr22:30391400-30409800	Weak transcription	Fetal Heart	heart
29	chr22:30391400-30411600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr22:30391400-30433000	Strong transcription	Primary neutrophils fromperipheralblood	blood
31	chr22:30391600-30400200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr22:30391600-30400200	Weak transcription	NHLF	lung
33	chr22:30391600-30404000	Weak transcription	Stomach Mucosa	stomach
34	chr22:30391600-30409800	Weak transcription	K562	blood
35	chr22:30391600-30417800	Weak transcription	Right Atrium	heart
36	chr22:30392200-30403000	Weak transcription	HMEC	breast
37	chr22:30392600-30425000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr22:30392800-30400800	Strong transcription	Primary T helper cells fromperipheralblood	blood
39	chr22:30393800-30400600	Weak transcription	HUVEC	blood vessel
40	chr22:30393800-30401000	Weak transcription	Pancreatic Islets	Pancreatic Islet
41	chr22:30393800-30424800	Strong transcription	Primary T cells fromperipheralblood	blood
42	chr22:30394200-30400400	Weak transcription	Brain Anterior Caudate	brain
43	chr22:30394200-30401000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr22:30394600-30400400	Strong transcription	Fetal Muscle Leg	muscle
45	chr22:30394600-30401200	Strong transcription	Fetal Lung	lung
46	chr22:30394600-30424600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr22:30394800-30400200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr22:30394800-30400200	Strong transcription	Liver	Liver
49	chr22:30394800-30400800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr22:30394800-30403800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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