Variant report

Variant	rs9402288
Chromosome Location	chr6:131148382-131148383
allele	A/T
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	FOXA1	chr6:131148157-131148822	HepG2	liver:	n/a	n/a
2	HNF4A	chr6:131148300-131149288	HepG2	liver:	n/a	chr6:131148527-131148535 chr6:131148521-131148536 chr6:131149233-131149241 chr6:131148522-131148534 chr6:131148520-131148535 chr6:131148521-131148536 chr6:131148522-131148534 chr6:131148519-131148537 chr6:131148522-131148535 chr6:131148521-131148536 chr6:131148521-131148536 chr6:131148521-131148535
3	POLR2A	chr6:131148299-131148863	HepG2	liver:	n/a	n/a
4	MAX	chr6:131148363-131149336	HepG2	liver:	n/a	n/a
5	MAX	chr6:131148164-131149458	HepG2	liver:	n/a	n/a
6	JUND	chr6:131148334-131148731	HepG2	liver:	n/a	n/a
7	RAD21	chr6:131148225-131149235	HepG2	liver:	n/a	n/a
8	POLR2A	chr6:131148255-131151991	HepG2	liver:	n/a	n/a
9	POLR2A	chr6:131148257-131151176	HepG2	liver:	n/a	n/a
10	FOXA1	chr6:131148229-131149351	HepG2	liver:	n/a	n/a
11	HNF4G	chr6:131148296-131148760	HepG2	liver:	n/a	chr6:131148527-131148535 chr6:131148519-131148534 chr6:131148521-131148536 chr6:131148522-131148534 chr6:131148521-131148536 chr6:131148522-131148534 chr6:131148519-131148537 chr6:131148522-131148535 chr6:131148521-131148536 chr6:131148521-131148536 chr6:131148521-131148535
12	FOXA2	chr6:131148018-131149105	HepG2	liver:	n/a	n/a
13	POLR2A	chr6:131148236-131149517	HepG2	liver:	n/a	n/a
14	TEAD4	chr6:131147982-131149813	HepG2	liver:	n/a	n/a
15	MAFF	chr6:131148292-131149291	HepG2	liver:	n/a	chr6:131149048-131149066
16	FOSL2	chr6:131148294-131148855	HepG2	liver:	n/a	n/a
17	HDAC2	chr6:131148080-131149073	HepG2	liver:	n/a	chr6:131148135-131148149
18	MYBL2	chr6:131148186-131149512	HepG2	liver:	n/a	n/a
19	EP300	chr6:131148141-131148837	HepG2	liver:	n/a	n/a
20	HNF4G	chr6:131148256-131148770	HepG2	liver:	n/a	chr6:131148527-131148535 chr6:131148519-131148534 chr6:131148521-131148536 chr6:131148522-131148534 chr6:131148521-131148536 chr6:131148522-131148534 chr6:131148519-131148537 chr6:131148522-131148535 chr6:131148521-131148536 chr6:131148521-131148536 chr6:131148521-131148535
21	JUND	chr6:131148300-131148787	HepG2	liver:	n/a	n/a
22	RXRA	chr6:131148255-131148771	HepG2	liver:	n/a	chr6:131148379-131148388
23	RAD21	chr6:131148356-131149145	HepG2	liver:	n/a	n/a
24	HNF4A	chr6:131148271-131148808	HepG2	liver:	n/a	chr6:131148527-131148535 chr6:131148521-131148536 chr6:131148522-131148534 chr6:131148520-131148535 chr6:131148521-131148536 chr6:131148522-131148534 chr6:131148519-131148537 chr6:131148522-131148535 chr6:131148521-131148536 chr6:131148521-131148536 chr6:131148521-131148535
25	POLR2A	chr6:131148261-131151644	HepG2	liver:	n/a	n/a
26	REST	chr6:131148325-131148689	HepG2	liver:	n/a	n/a
27	ARID3A	chr6:131147911-131149430	HepG2	liver:	n/a	n/a
28	MBD4	chr6:131148184-131149727	HepG2	liver:	n/a	n/a
29	NFIC	chr6:131148140-131149383	HepG2	liver:	n/a	n/a
30	MAFK	chr6:131148254-131149247	HepG2	liver:	n/a	chr6:131149051-131149060 chr6:131149049-131149065 chr6:131149054-131149065 chr6:131149049-131149064 chr6:131149052-131149066 chr6:131149053-131149064 chr6:131149053-131149064 chr6:131149054-131149065
31	FOXA1	chr6:131148264-131148801	HepG2	liver:	n/a	n/a
32	REST	chr6:131148283-131148850	HepG2	liver:	n/a	n/a
33	RFX5	chr6:131148325-131149155	HepG2	liver:	n/a	n/a
34	EP300	chr6:131148178-131148845	HepG2	liver:	n/a	n/a
35	HNF4A	chr6:131148259-131148863	HepG2	liver:	n/a	chr6:131148527-131148535 chr6:131148521-131148536 chr6:131148522-131148534 chr6:131148520-131148535 chr6:131148521-131148536 chr6:131148522-131148534 chr6:131148519-131148537 chr6:131148522-131148535 chr6:131148521-131148536 chr6:131148521-131148536 chr6:131148521-131148535
36	HEY1	chr6:131148198-131149499	HepG2	liver:	n/a	n/a
37	FOXA2	chr6:131148256-131148863	HepG2	liver:	n/a	n/a
38	MXI1	chr6:131148319-131149336	HepG2	liver:	n/a	n/a
39	TBP	chr6:131148304-131149186	HepG2	liver:	n/a	n/a
40	NFIC	chr6:131148236-131149379	HepG2	liver:	n/a	n/a
41	MAFK	chr6:131148315-131149263	HepG2	liver:	n/a	chr6:131149051-131149060 chr6:131149049-131149065 chr6:131149054-131149065 chr6:131149049-131149064 chr6:131149052-131149066 chr6:131149053-131149064 chr6:131149053-131149064 chr6:131149054-131149065
42	POLR2A	chr6:131148222-131163334	HepG2	liver:	n/a	n/a
43	HDAC2	chr6:131148157-131148804	HepG2	liver:	n/a	n/a
44	RCOR1	chr6:131148275-131148844	HepG2	liver:	n/a	n/a
45	SP1	chr6:131148123-131149267	HepG2	liver:	n/a	n/a
46	FOXA1	chr6:131148109-131148845	HepG2	liver:	n/a	n/a
47	SMC3	chr6:131148288-131149502	HepG2	liver:	n/a	n/a
48	EP300	chr6:131148265-131148769	HepG2	liver:	n/a	n/a
49	MYBL2	chr6:131146917-131149508	HepG2	liver:	n/a	n/a
50	MBD4	chr6:131148212-131149446	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
SMLR1	TF binding region

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1044303	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12199765	0.85[EUR][1000 genomes]
rs12202038	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1360756	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1413754	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2236075	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2236081	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2236082	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2281490	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6975	0.83[EUR][1000 genomes]
rs9388856	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9388857	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9402289	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533971	chr6:130490694-131172051	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:131132000-131159200	Weak transcription	HSMM	muscle
2	chr6:131132000-131173800	Weak transcription	HSMMtube	muscle
3	chr6:131136400-131174400	Weak transcription	Left Ventricle	heart
4	chr6:131145600-131148400	Weak transcription	Psoas Muscle	Psoas
5	chr6:131146400-131148600	Weak transcription	Duodenum Mucosa	Duodenum
6	chr6:131147200-131148400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr6:131147200-131148400	Enhancers	Fetal Intestine Small	intestine
8	chr6:131147600-131148400	Flanking Active TSS	HepG2	liver
9	chr6:131147600-131157800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr6:131147800-131149000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr6:131147800-131149400	Enhancers	Pancreas	Pancrea
12	chr6:131148000-131148600	Weak transcription	Fetal Intestine Large	intestine
13	chr6:131148000-131157000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr6:131148200-131149800	Active TSS	Liver	Liver

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