Variant report

Variant	rs7576319
Chromosome Location	chr2:114428258-114428259
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:0)
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	chr2:114428227-114428277	Caco-2	colon:	n/a
2	chr2:114428227-114428277	HCT-116	colon:	n/a
3	chr2:114428227-114428277	SK-N-SH	brain:	n/a
4	chr2:114428227-114428277	GM12878	blood:	n/a
5	chr2:114428227-114428277	AoSMC	blood vessel:	n/a
6	chr2:114428227-114428277	MCF-7	breast:	n/a
7	chr2:114428227-114428277	H1-hESC	embryonic stem cell:	embryo
8	chr2:114428227-114428277	U87	brain:	n/a
9	chr2:114428227-114428277	HRE	kidney:	n/a
10	chr2:114428227-114428277	GM12891	blood:	n/a
11	chr2:114428227-114428277	HPAEpiC	pulmonary alveolar:	n/a
12	chr2:114428227-114428277	HAEpiC	amniotic membrane:	n/a
13	chr2:114428227-114428277	AG09309	skin:	n/a
14	chr2:114428227-114428277	Hela-S3	cervix:	n/a
15	chr2:114428227-114428277	IMR90	lung:	fetal
16	chr2:114428227-114428277	NHDF-neo	bronchial:	n/a
17	chr2:114428227-114428277	HepG2	liver:	n/a
18	chr2:114428227-114428277	AG04449	skin:	fetal
19	chr2:114428227-114428277	AG09319	gingival:	n/a
20	chr2:114428227-114428277	Jurkat	blood:	n/a
21	chr2:114428227-114428277	ovcar-3	ovarian:	n/a
22	chr2:114428227-114428277	NHBE	bronchial:	n/a
23	chr2:114428227-114428277	NT2-D1	testis:	n/a
24	chr2:114428227-114428277	MCF10A-Er-Src	breast:	n/a
25	chr2:114428227-114428277	PANC-1	pancreas:	n/a
26	chr2:114428227-114428277	RPTEC	kidney:	n/a
27	chr2:114428227-114428277	BJ	skin:	n/a
28	chr2:114428227-114428277	LNCaP	prostate:	n/a
29	chr2:114428227-114428277	HMEC	breast:	n/a
30	chr2:114428227-114428277	PrEC	prostate:	n/a
31	chr2:114428227-114428277	K562	blood:	n/a
32	chr2:114428227-114428277	GM12892	blood:	n/a
33	chr2:114428227-114428277	ECC-1	luminal epithelium:	n/a
34	chr2:114428227-114428277	ProgFib	skin:	n/a
35	chr2:114428227-114428277	A549	lung:	n/a
36	chr2:114428227-114428277	CMK	blood:	n/a
37	chr2:114428227-114428277	NB4	blood:	n/a
38	chr2:114428227-114428277	NH-A	brain:	n/a
39	chr2:114428227-114428277	HUVEC	blood vessel:	n/a
40	chr2:114428227-114428277	HL-60	blood:	n/a
41	chr2:114428227-114428277	T-47D	breast:	n/a
42	chr2:114428227-114428277	SKMC	muscle:	n/a
43	chr2:114428227-114428277	SK-N-SH_RA	brain:	n/a
44	chr2:114428227-114428277	PFSK-1	brain:	n/a
45	chr2:114428227-114428277	BE2_C	brain:	n/a
46	chr2:114428227-114428277	GM06990	blood:	n/a
47	chr2:114428227-114428277	HRCEpiC	kidney:	n/a
48	chr2:114428227-114428277	HRPEpiC	eye:	n/a
49	chr2:114428227-114428277	Hepatocyte	liver:	n/a
50	chr2:114428227-114428277	HCF	heart:	n/a

No data

Variant related genes	Relation type
ENSG00000175509	CpG island

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs6731713	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7584413	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2759085	chr2:114074949-114428678	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	33 gene(s)	inside rSNPs	diseases
2	nsv428062	chr2:114251945-114428678	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases
3	esv2757827	chr2:114253780-114428678	Weak transcription Bivalent/Poised TSS Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases
4	nsv1001195	chr2:114362003-114506330	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv508163	chr2:114364609-114431004	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv961497	chr2:114428065-114429638	Enhancers Weak transcription Bivalent Enhancer	TF binding region CpG island lncRNA	2 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:114424800-114433400	Weak transcription	Sigmoid Colon	Sigmoid Colon

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