Variant report

Variant	rs4833772
Chromosome Location	chr4:122687491-122687492
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:11)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:11 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr4:122687176-122687643	H1-hESC	embryonic stem cell:	n/a	n/a
2	USF1	chr4:122687204-122687614	H1-hESC	embryonic stem cell:	n/a	chr4:122687475-122687486
3	BHLHE40	chr4:122687209-122687675	K562	blood:	n/a	n/a
4	ZNF263	chr4:122687011-122687850	HEK293-T-REx	kidney:	n/a	n/a
5	MAX	chr4:122687228-122687606	H1-hESC	embryonic stem cell:	n/a	n/a
6	SIN3A	chr4:122687218-122687614	H1-hESC	embryonic stem cell:	n/a	n/a
7	USF1	chr4:122687297-122687575	K562	blood:	n/a	chr4:122687475-122687486
8	USF2	chr4:122687315-122687625	H1-hESC	embryonic stem cell:	n/a	n/a
9	BHLHE40	chr4:122687385-122687613	HepG2	liver:	n/a	n/a
10	USF1	chr4:122687241-122687607	H1-hESC	embryonic stem cell:	n/a	chr4:122687475-122687486
11	USF1	chr4:122687380-122687554	HepG2	liver:	n/a	chr4:122687475-122687486

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:122687481-122687531	SK-N-SH	brain:	n/a
2	chr4:122687481-122687531	CMK	blood:	n/a
3	chr4:122687481-122687531	BE2_C	brain:	n/a
4	chr4:122687481-122687531	U87	brain:	n/a
5	chr4:122687481-122687531	AG04449	skin:	fetal
6	chr4:122687481-122687531	AG04450	lung:	fetal
7	chr4:122687481-122687531	GM12892	blood:	n/a
8	chr4:122687481-122687531	HEEpiC	esophagus:	n/a
9	chr4:122687481-122687531	NHDF-neo	bronchial:	n/a
10	chr4:122687481-122687531	Hepatocyte	liver:	n/a
11	chr4:122687481-122687531	HRE	kidney:	n/a
12	chr4:122687481-122687531	H1-hESC	embryonic stem cell:	embryo
13	chr4:122687481-122687531	K562	blood:	n/a
14	chr4:122687481-122687531	MCF-7	breast:	n/a
15	chr4:122687481-122687531	PrEC	prostate:	n/a
16	chr4:122687481-122687531	LNCaP	prostate:	n/a
17	chr4:122687481-122687531	HUVEC	blood vessel:	n/a
18	chr4:122687481-122687531	SK-N-MC	brain:	n/a
19	chr4:122687481-122687531	HCT-116	colon:	n/a
20	chr4:122687481-122687531	AG10803	skin:	n/a
21	chr4:122687481-122687531	SKMC	muscle:	n/a
22	chr4:122687481-122687531	IMR90	lung:	fetal
23	chr4:122687481-122687531	Caco-2	colon:	n/a
24	chr4:122687481-122687531	HCF	heart:	n/a
25	chr4:122687481-122687531	HPAEpiC	pulmonary alveolar:	n/a
26	chr4:122687481-122687531	ECC-1	luminal epithelium:	n/a
27	chr4:122687481-122687531	A549	lung:	n/a
28	chr4:122687481-122687531	HepG2	liver:	n/a
29	chr4:122687481-122687531	PANC-1	pancreas:	n/a
30	chr4:122687481-122687531	HRPEpiC	eye:	n/a
31	chr4:122687481-122687531	SK-N-SH_RA	brain:	n/a
32	chr4:122687481-122687531	BJ	skin:	n/a
33	chr4:122687481-122687531	HNPCEpiC	eye:	n/a
34	chr4:122687481-122687531	AoSMC	blood vessel:	n/a
35	chr4:122687481-122687531	MCF10A-Er-Src	breast:	n/a
36	chr4:122687481-122687531	AG09319	gingival:	n/a
37	chr4:122687481-122687531	HEK293	kidney:	embryo
38	chr4:122687481-122687531	RPTEC	kidney:	n/a
39	chr4:122687481-122687531	ProgFib	skin:	n/a
40	chr4:122687481-122687531	GM12878	blood:	n/a
41	chr4:122687481-122687531	Hela-S3	cervix:	n/a
42	chr4:122687481-122687531	GM06990	blood:	n/a
43	chr4:122687481-122687531	HAEpiC	amniotic membrane:	n/a
44	chr4:122687481-122687531	HL-60	blood:	n/a
45	chr4:122687481-122687531	HRCEpiC	kidney:	n/a
46	chr4:122687481-122687531	T-47D	breast:	n/a
47	chr4:122687481-122687531	SAEC	small airway:	n/a
48	chr4:122687481-122687531	HMEC	breast:	n/a
49	chr4:122687481-122687531	GM19239	blood:	n/a
50	chr4:122687481-122687531	GM12891	blood:	n/a

No data

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC079341.1-5	chr4:122685740-122687963	NR_024365

No data

Variant related genes	Relation type
TMEM155	TF binding region
TMEM155	CpG island

Extended variants
information (count: 8 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs10518289	0.85[JPT][hapmap]
rs4833233	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7672879	0.86[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817261	chr4:122085173-123020068	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv997539	chr4:122544104-123274266	Genic enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	nsv530157	chr4:122557302-123248756	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv461635	chr4:122633535-122720999	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv595357	chr4:122633535-122720999	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4833772	EXOSC9	Cis_1M	lymphoblastoid	RTeQTL
rs4833772	CCNA2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:122686600-122687800	Flanking Active TSS	Fetal Heart	heart
2	chr4:122686800-122687600	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
3	chr4:122686800-122687600	Active TSS	Right Ventricle	heart
4	chr4:122686800-122689600	Weak transcription	Ovary	ovary
5	chr4:122687000-122687600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr4:122687000-122687800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
7	chr4:122687000-122687800	Bivalent Enhancer	H9 Cell Line	embryonic stem cell
8	chr4:122687200-122687600	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
9	chr4:122687200-122687600	Flanking Bivalent TSS/Enh	Placenta	Placenta
10	chr4:122687400-122687600	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
11	chr4:122687400-122687600	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
12	chr4:122687400-122687600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
13	chr4:122687400-122687600	Enhancers	NHDF-Ad	bronchial

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