Variant report

Variant	rs4897491
Chromosome Location	chr6:131386536-131386537
allele	C/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	JUND	chr6:131386315-131386960	HepG2	liver:	n/a	chr6:131386778-131386790 chr6:131386781-131386788 chr6:131386780-131386788 chr6:131386780-131386789 chr6:131386778-131386789 chr6:131386779-131386789
2	FOXA1	chr6:131386206-131386757	HepG2	liver:	n/a	n/a
3	EP300	chr6:131386233-131386752	HepG2	liver:	n/a	n/a
4	MAFK	chr6:131386320-131386974	HepG2	liver:	n/a	chr6:131386783-131386794 chr6:131386782-131386796 chr6:131386779-131386794 chr6:131386781-131386790 chr6:131386783-131386794
5	TEAD4	chr6:131386092-131386781	HepG2	liver:	n/a	n/a
6	MXI1	chr6:131386159-131386626	HepG2	liver:	n/a	n/a
7	ELF1	chr6:131386137-131386659	HepG2	liver:	n/a	n/a
8	SMC3	chr6:131386339-131386588	HepG2	liver:	n/a	n/a
9	HNF4A	chr6:131386246-131386679	HepG2	liver:	n/a	chr6:131386400-131386412 chr6:131386399-131386414 chr6:131386399-131386414 chr6:131386399-131386414
10	ARID3A	chr6:131386184-131387227	HepG2	liver:	n/a	n/a
11	EP300	chr6:131386208-131386656	HepG2	liver:	n/a	n/a
12	MAZ	chr6:131386505-131386728	HepG2	liver:	n/a	n/a
13	FOXA1	chr6:131386206-131386679	HepG2	liver:	n/a	n/a
14	MBD4	chr6:131386021-131386733	HepG2	liver:	n/a	n/a
15	EP300	chr6:131386260-131386802	HepG2	liver:	n/a	chr6:131386779-131386788 chr6:131386780-131386789
16	JUND	chr6:131386339-131386565	HepG2	liver:	n/a	n/a
17	REST	chr6:131386248-131386633	HepG2	liver:	n/a	n/a
18	ELF1	chr6:131386134-131386635	HepG2	liver:	n/a	n/a
19	FOXA1	chr6:131386119-131386717	HepG2	liver:	n/a	n/a
20	NFIC	chr6:131386155-131386772	HepG2	liver:	n/a	n/a
21	HDAC2	chr6:131386143-131386661	HepG2	liver:	n/a	n/a
22	FOXA1	chr6:131386109-131386799	HepG2	liver:	n/a	n/a
23	MYBL2	chr6:131386025-131386861	HepG2	liver:	n/a	n/a
24	HNF4A	chr6:131386237-131386596	HepG2	liver:	n/a	chr6:131386400-131386412 chr6:131386399-131386414 chr6:131386399-131386414 chr6:131386399-131386414
25	MAFF	chr6:131386267-131386980	HepG2	liver:	n/a	chr6:131386778-131386796
26	ZEB1	chr6:131386054-131386776	HepG2	liver:	n/a	n/a
27	RXRA	chr6:131386293-131386604	HepG2	liver:	n/a	n/a
28	MAFK	chr6:131386403-131386987	HepG2	liver:	n/a	chr6:131386783-131386794 chr6:131386782-131386796 chr6:131386779-131386794 chr6:131386781-131386790 chr6:131386783-131386794
29	HNF4G	chr6:131386164-131386667	HepG2	liver:	n/a	chr6:131386400-131386412 chr6:131386397-131386412 chr6:131386399-131386414 chr6:131386399-131386414 chr6:131386399-131386414
30	FOXA2	chr6:131386179-131386663	HepG2	liver:	n/a	n/a
31	SP1	chr6:131386141-131386701	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:131380112..131382721-chr6:131384592..131387517,3	K562	blood:

Variant related genes	Relation type
EPB41L2	TF binding region

Extended variants
information (count: 60 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs12525104	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12525986	0.89[ASN][1000 genomes]
rs13437326	0.81[ASN][1000 genomes]
rs17178878	0.95[ASN][1000 genomes]
rs17179123	0.95[ASN][1000 genomes]
rs17180687	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17180867	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17784418	0.95[ASN][1000 genomes]
rs17784472	1.00[ASN][1000 genomes]
rs17784896	0.81[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs17785507	0.81[ASN][1000 genomes]
rs1811949	0.89[ASN][1000 genomes]
rs1977576	0.95[ASN][1000 genomes]
rs2297853	0.89[ASN][1000 genomes]
rs28482889	0.81[ASN][1000 genomes]
rs34899420	0.95[ASN][1000 genomes]
rs4895901	0.95[ASN][1000 genomes]
rs4895903	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4895904	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4895906	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4895907	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4895908	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4895909	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4897478	0.95[ASN][1000 genomes]
rs4897483	0.81[ASN][1000 genomes]
rs4897484	1.00[ASN][1000 genomes]
rs4897485	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs4897486	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4897487	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4897489	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4897492	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4897496	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs55898152	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56163502	1.00[ASN][1000 genomes]
rs56173113	0.89[ASN][1000 genomes]
rs56201801	1.00[ASN][1000 genomes]
rs58503799	0.81[ASN][1000 genomes]
rs62422362	1.00[ASN][1000 genomes]
rs62422365	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62422380	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62423581	0.89[ASN][1000 genomes]
rs62423598	0.95[ASN][1000 genomes]
rs6906059	0.95[ASN][1000 genomes]
rs6916024	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6921396	0.89[ASN][1000 genomes]
rs6922045	0.89[ASN][1000 genomes]
rs6928334	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6928920	1.00[ASN][1000 genomes]
rs6935108	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7741148	0.89[ASN][1000 genomes]
rs7755720	0.89[ASN][1000 genomes]
rs7758016	0.86[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7769678	0.89[ASN][1000 genomes]
rs7771543	0.89[ASN][1000 genomes]
rs9385568	0.89[ASN][1000 genomes]
rs9402303	0.89[ASN][1000 genomes]
rs9483206	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs954211	0.83[AMR][1000 genomes];0.81[ASN][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	nsv1032955	chr6:131298803-131818502	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv538443	chr6:131298803-131818502	Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4897491	EPB41L2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:131385000-131389000	Weak transcription	Fetal Brain Male	brain
2	chr6:131385200-131386600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr6:131385200-131386600	Weak transcription	Small Intestine	intestine
4	chr6:131385200-131387200	Enhancers	Stomach Mucosa	stomach
5	chr6:131385200-131387400	Enhancers	Fetal Intestine Small	intestine
6	chr6:131385200-131387600	Enhancers	Fetal Intestine Large	intestine
7	chr6:131385200-131389800	Weak transcription	Aorta	Aorta
8	chr6:131385400-131386600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr6:131385400-131386600	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr6:131385400-131386800	Weak transcription	K562	blood
11	chr6:131385400-131387400	Enhancers	Duodenum Mucosa	Duodenum
12	chr6:131385400-131387400	Enhancers	Rectal Mucosa Donor 31	rectum
13	chr6:131385400-131388600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr6:131386000-131387200	Enhancers	A549	lung
15	chr6:131386000-131387400	Enhancers	Hela-S3	cervix
16	chr6:131386000-131387400	Flanking Active TSS	HepG2	liver
17	chr6:131386200-131387600	Enhancers	HSMM	muscle
18	chr6:131386400-131387000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr6:131386400-131387000	Enhancers	HMEC	breast
20	chr6:131386400-131387200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr6:131386400-131387200	Enhancers	NHEK	skin
22	chr6:131386400-131387600	Enhancers	Colonic Mucosa	Colon
23	chr6:131386400-131387600	Enhancers	Fetal Muscle Leg	muscle
24	chr6:131386400-131387600	Enhancers	HSMMtube	muscle

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