Variant report

Variant	rs59143905
Chromosome Location	chr7:56355000-56355001
allele	C/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	chr7:56354974-56355024	BJ	skin:	n/a
2	chr7:56354974-56355024	HepG2	liver:	n/a
3	chr7:56354974-56355024	AG09309	skin:	n/a
4	chr7:56354974-56355024	HUVEC	blood vessel:	n/a
5	chr7:56354974-56355024	GM12878	blood:	n/a
6	chr7:56354974-56355024	MCF10A-Er-Src	breast:	n/a
7	chr7:56354974-56355024	U87	brain:	n/a
8	chr7:56354974-56355024	ECC-1	luminal epithelium:	n/a
9	chr7:56354974-56355024	HCPEpiC	choroid plexus:	n/a
10	chr7:56354974-56355024	A549	lung:	n/a
11	chr7:56354974-56355024	HCT-116	colon:	n/a
12	chr7:56354974-56355024	SK-N-SH_RA	brain:	n/a
13	chr7:56354974-56355024	ProgFib	skin:	n/a
14	chr7:56354974-56355024	H1-hESC	embryonic stem cell:	embryo
15	chr7:56354974-56355024	HRCEpiC	kidney:	n/a
16	chr7:56354974-56355024	SAEC	small airway:	n/a
17	chr7:56354974-56355024	HPAEpiC	pulmonary alveolar:	n/a
18	chr7:56354974-56355024	NB4	blood:	n/a
19	chr7:56354974-56355024	BE2_C	brain:	n/a
20	chr7:56354974-56355024	HCM	heart:	n/a
21	chr7:56354974-56355024	SK-N-MC	brain:	n/a
22	chr7:56354974-56355024	AG10803	skin:	n/a
23	chr7:56354974-56355024	PrEC	prostate:	n/a
24	chr7:56354974-56355024	GM12891	blood:	n/a
25	chr7:56354974-56355024	NHDF-neo	bronchial:	n/a
26	chr7:56354974-56355024	NHBE	bronchial:	n/a
27	chr7:56354974-56355024	IMR90	lung:	fetal
28	chr7:56354974-56355024	GM06990	blood:	n/a
29	chr7:56354974-56355024	NH-A	brain:	n/a
30	chr7:56354974-56355024	ovcar-3	ovarian:	n/a
31	chr7:56354974-56355024	HL-60	blood:	n/a
32	chr7:56354974-56355024	RPTEC	kidney:	n/a
33	chr7:56354974-56355024	SKMC	muscle:	n/a
34	chr7:56354974-56355024	Caco-2	colon:	n/a
35	chr7:56354974-56355024	PANC-1	pancreas:	n/a
36	chr7:56354974-56355024	HCF	heart:	n/a
37	chr7:56354974-56355024	HAEpiC	amniotic membrane:	n/a
38	chr7:56354974-56355024	Jurkat	blood:	n/a
39	chr7:56354974-56355024	HRE	kidney:	n/a
40	chr7:56354974-56355024	CMK	blood:	n/a
41	chr7:56354974-56355024	SK-N-SH	brain:	n/a
42	chr7:56354974-56355024	HNPCEpiC	eye:	n/a
43	chr7:56354974-56355024	Hepatocyte	liver:	n/a
44	chr7:56354974-56355024	AG09319	gingival:	n/a
45	chr7:56354974-56355024	T-47D	breast:	n/a
46	chr7:56354974-56355024	Hela-S3	cervix:	n/a
47	chr7:56354974-56355024	K562	blood:	n/a
48	chr7:56354974-56355024	HEEpiC	esophagus:	n/a
49	chr7:56354974-56355024	MCF-7	breast:	n/a
50	chr7:56354974-56355024	AG04449	skin:	fetal

No data

Variant related genes	Relation type
ENSG00000223559	CpG island

Extended variants
information (count: 23 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs58295010	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs58406727	0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs59260816	0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61078515	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2829874	chr7:55382925-56369816	Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
2	esv12412	chr7:55619800-56385412	Strong transcription Flanking Active TSS Genic enhancers Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
3	nsv949574	chr7:55705566-56544711	Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
4	esv3446617	chr7:55745934-56485903	Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
5	esv2761334	chr7:55823581-56424739	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
6	nsv1018806	chr7:55844931-56383936	Active TSS Enhancers Genic enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
7	nsv538860	chr7:55844931-56383936	Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
8	nsv1034712	chr7:56146885-56605592	Active TSS Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
9	nsv538861	chr7:56146885-56605592	Bivalent/Poised TSS Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
10	nsv526294	chr7:56171489-56622630	Active TSS Weak transcription ZNF genes & repeats Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
11	nsv1016771	chr7:56174828-56643856	Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
12	nsv538862	chr7:56174828-56643856	ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
13	esv3368661	chr7:56201127-56591279	ZNF genes & repeats Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
14	nsv971171	chr7:56243262-56368822	Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
15	nsv831008	chr7:56245775-56403107	ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
16	nsv1033163	chr7:56307057-56677865	ZNF genes & repeats Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
17	nsv538863	chr7:56307057-56677865	ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
18	nsv888065	chr7:56319050-56580547	ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
19	nsv427783	chr7:56334626-56983646	Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:56355000-56355200	Enhancers	Brain Anterior Caudate	brain
2	chr7:56355000-56355200	Enhancers	Brain Cingulate Gyrus	brain
3	chr7:56355000-56355800	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr7:56355000-56355800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
5	chr7:56355000-56356000	Active TSS	Aorta	Aorta
6	chr7:56355000-56356000	Active TSS	Pancreatic Islets	Pancreatic Islet
7	chr7:56355000-56356000	Active TSS	Right Atrium	heart
8	chr7:56355000-56356000	Active TSS	Stomach Smooth Muscle	stomach

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