Variant report

Variant	rs2572439
Chromosome Location	chr8:11251485-11251486
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

No data

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:11251471-11251521	AG09309	skin:	n/a
2	chr8:11251471-11251521	PrEC	prostate:	n/a
3	chr8:11251471-11251521	HepG2	liver:	n/a
4	chr8:11251471-11251521	H1-hESC	embryonic stem cell:	embryo
5	chr8:11251471-11251521	K562	blood:	n/a
6	chr8:11251471-11251521	HPAEpiC	pulmonary alveolar:	n/a
7	chr8:11251471-11251521	NH-A	brain:	n/a
8	chr8:11251471-11251521	PANC-1	pancreas:	n/a
9	chr8:11251471-11251521	HEK293	kidney:	embryo
10	chr8:11251471-11251521	Caco-2	colon:	n/a
11	chr8:11251471-11251521	AoSMC	blood vessel:	n/a
12	chr8:11251471-11251521	ProgFib	skin:	n/a
13	chr8:11251471-11251521	GM06990	blood:	n/a
14	chr8:11251471-11251521	HMEC	breast:	n/a
15	chr8:11251471-11251521	HNPCEpiC	eye:	n/a
16	chr8:11251471-11251521	ovcar-3	ovarian:	n/a
17	chr8:11251471-11251521	Hela-S3	cervix:	n/a
18	chr8:11251471-11251521	SK-N-MC	brain:	n/a
19	chr8:11251471-11251521	GM12892	blood:	n/a
20	chr8:11251471-11251521	HIPEpiC	eye:	n/a
21	chr8:11251471-11251521	HL-60	blood:	n/a
22	chr8:11251471-11251521	HRE	kidney:	n/a
23	chr8:11251471-11251521	LNCaP	prostate:	n/a
24	chr8:11251471-11251521	SAEC	small airway:	n/a
25	chr8:11251471-11251521	PFSK-1	brain:	n/a
26	chr8:11251471-11251521	NT2-D1	testis:	n/a
27	chr8:11251471-11251521	AG10803	skin:	n/a
28	chr8:11251471-11251521	AG04449	skin:	fetal
29	chr8:11251471-11251521	ECC-1	luminal epithelium:	n/a
30	chr8:11251471-11251521	BJ	skin:	n/a
31	chr8:11251471-11251521	SK-N-SH	brain:	n/a
32	chr8:11251471-11251521	HCM	heart:	n/a
33	chr8:11251471-11251521	GM19239	blood:	n/a
34	chr8:11251471-11251521	HRCEpiC	kidney:	n/a
35	chr8:11251471-11251521	HAEpiC	amniotic membrane:	n/a
36	chr8:11251471-11251521	BE2_C	brain:	n/a
37	chr8:11251471-11251521	AG04450	lung:	fetal
38	chr8:11251471-11251521	HCF	heart:	n/a
39	chr8:11251471-11251521	RPTEC	kidney:	n/a
40	chr8:11251471-11251521	CMK	blood:	n/a
41	chr8:11251471-11251521	U87	brain:	n/a
42	chr8:11251471-11251521	MCF-7	breast:	n/a
43	chr8:11251471-11251521	NHBE	bronchial:	n/a
44	chr8:11251471-11251521	AG09319	gingival:	n/a
45	chr8:11251471-11251521	HUVEC	blood vessel:	n/a
46	chr8:11251471-11251521	Jurkat	blood:	n/a
47	chr8:11251471-11251521	IMR90	lung:	fetal
48	chr8:11251471-11251521	A549	lung:	n/a
49	chr8:11251471-11251521	NHDF-neo	bronchial:	n/a
50	chr8:11251471-11251521	GM12891	blood:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:11141582..11144222-chr8:11248890..11251574,2	K562	blood:

No data

Variant related genes	Relation type
RNU6-1084P	CpG island
ENSG00000104643	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs1435281	0.82[YRI][hapmap]
rs2736271	0.82[YRI][hapmap]
rs2736291	0.84[AFR][1000 genomes]
rs6986454	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035072	chr8:10819444-11480692	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv539473	chr8:10819444-11480692	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv529399	chr8:10970091-11805960	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
4	nsv1022525	chr8:11066191-11309356	Enhancers Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv539474	chr8:11066191-11309356	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
6	nsv1033312	chr8:11126800-11252170	Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Genic enhancers Active TSS ZNF genes & repeats 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
7	nsv890354	chr8:11176147-11266131	Bivalent Enhancer Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
8	esv34097	chr8:11177372-11489894	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
9	nsv470183	chr8:11236975-11307118	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
10	nsv465465	chr8:11245064-11307118	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
11	nsv610275	chr8:11245064-11307118	Enhancers Genic enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 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	chr8:11250200-11251800	Enhancers	Pancreas	Pancrea
2	chr8:11250600-11251600	Enhancers	Stomach Mucosa	stomach
3	chr8:11251400-11251600	Weak transcription	Gastric	stomach

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