Variant report

Variant	rs4252057
Chromosome Location	chr6:161122900-161122901
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SP1	chr6:161122876-161123483	HepG2	liver:	n/a	n/a
2	HEY1	chr6:161122826-161124222	HepG2	liver:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:161122856-161122906	SAEC	small airway:	n/a
2	chr6:161122856-161122906	PFSK-1	brain:	n/a
3	chr6:161122856-161122906	Jurkat	blood:	n/a
4	chr6:161122856-161122906	AG09319	gingival:	n/a
5	chr6:161122856-161122906	MCF10A-Er-Src	breast:	n/a
6	chr6:161122856-161122906	HAEpiC	amniotic membrane:	n/a
7	chr6:161122856-161122906	HCF	heart:	n/a
8	chr6:161122856-161122906	Hepatocyte	liver:	n/a
9	chr6:161122856-161122906	AG09309	skin:	n/a
10	chr6:161122856-161122906	PANC-1	pancreas:	n/a
11	chr6:161122856-161122906	T-47D	breast:	n/a
12	chr6:161122856-161122906	BE2_C	brain:	n/a
13	chr6:161122856-161122906	U87	brain:	n/a
14	chr6:161122856-161122906	RPTEC	kidney:	n/a
15	chr6:161122856-161122906	NT2-D1	testis:	n/a
16	chr6:161122856-161122906	SK-N-SH	brain:	n/a
17	chr6:161122856-161122906	GM12878	blood:	n/a
18	chr6:161122856-161122906	GM06990	blood:	n/a
19	chr6:161122856-161122906	ProgFib	skin:	n/a
20	chr6:161122856-161122906	SK-N-SH_RA	brain:	n/a
21	chr6:161122856-161122906	NHBE	bronchial:	n/a
22	chr6:161122856-161122906	HL-60	blood:	n/a
23	chr6:161122856-161122906	Hela-S3	cervix:	n/a
24	chr6:161122856-161122906	NB4	blood:	n/a
25	chr6:161122856-161122906	LNCaP	prostate:	n/a
26	chr6:161122856-161122906	HPAEpiC	pulmonary alveolar:	n/a
27	chr6:161122856-161122906	HCPEpiC	choroid plexus:	n/a
28	chr6:161122856-161122906	AG04449	skin:	fetal
29	chr6:161122856-161122906	HRPEpiC	eye:	n/a
30	chr6:161122856-161122906	CMK	blood:	n/a
31	chr6:161122856-161122906	GM12892	blood:	n/a
32	chr6:161122856-161122906	ovcar-3	ovarian:	n/a
33	chr6:161122856-161122906	SKMC	muscle:	n/a
34	chr6:161122856-161122906	Caco-2	colon:	n/a
35	chr6:161122856-161122906	NHDF-neo	bronchial:	n/a
36	chr6:161122856-161122906	K562	blood:	n/a
37	chr6:161122856-161122906	PrEC	prostate:	n/a
38	chr6:161122856-161122906	ECC-1	luminal epithelium:	n/a
39	chr6:161122856-161122906	HCM	heart:	n/a
40	chr6:161122856-161122906	AG10803	skin:	n/a
41	chr6:161122856-161122906	A549	lung:	n/a
42	chr6:161122856-161122906	NH-A	brain:	n/a
43	chr6:161122856-161122906	HRCEpiC	kidney:	n/a
44	chr6:161122856-161122906	MCF-7	breast:	n/a
45	chr6:161122856-161122906	SK-N-MC	brain:	n/a
46	chr6:161122856-161122906	HEEpiC	esophagus:	n/a
47	chr6:161122856-161122906	AoSMC	blood vessel:	n/a
48	chr6:161122856-161122906	HRE	kidney:	n/a
49	chr6:161122856-161122906	HepG2	liver:	n/a
50	chr6:161122856-161122906	HMEC	breast:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:1242011..1244764-chr6:161122775..161125242,2	MCF-7	breast:

No data

Variant related genes	Relation type
PLG	TF binding region
PLG	CpG island
ENSG00000159692	Chromatin interaction
ENSG00000196810	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1853019	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs41264308	1.00[AMR][1000 genomes]
rs41264864	1.00[AMR][1000 genomes]
rs41265940	1.00[AMR][1000 genomes]
rs4252063	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4252064	1.00[AMR][1000 genomes]
rs7449940	1.00[AMR][1000 genomes]
rs7750767	1.00[AMR][1000 genomes]
rs9457939	1.00[AMR][1000 genomes]
rs9457947	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758089	chr6:160372244-161234665	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	esv2759484	chr6:160372244-161234665	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv605005	chr6:161069941-161152449	Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv981222	chr6:161121517-161135479	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:161122600-161124000	Enhancers	HepG2	liver
2	chr6:161122800-161123200	Flanking Active TSS	Liver	Liver
3	chr6:161122800-161123200	Enhancers	Fetal Intestine Large	intestine

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