Variant report

Variant	rs558045897
Chromosome Location	chr8:62823917-62823918
allele	A/C
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	chr8:62823894-62823944	NH-A	brain:	n/a
2	chr8:62823894-62823944	AG04449	skin:	fetal
3	chr8:62823894-62823944	AG10803	skin:	n/a
4	chr8:62823894-62823944	NB4	blood:	n/a
5	chr8:62823894-62823944	GM12892	blood:	n/a
6	chr8:62823894-62823944	Caco-2	colon:	n/a
7	chr8:62823894-62823944	AG09309	skin:	n/a
8	chr8:62823894-62823944	RPTEC	kidney:	n/a
9	chr8:62823894-62823944	PFSK-1	brain:	n/a
10	chr8:62823894-62823944	NHDF-neo	bronchial:	n/a
11	chr8:62823894-62823944	K562	blood:	n/a
12	chr8:62823894-62823944	SAEC	small airway:	n/a
13	chr8:62823894-62823944	HCT-116	colon:	n/a
14	chr8:62823894-62823944	HPAEpiC	pulmonary alveolar:	n/a
15	chr8:62823894-62823944	MCF-7	breast:	n/a
16	chr8:62823894-62823944	A549	lung:	n/a
17	chr8:62823894-62823944	ovcar-3	ovarian:	n/a
18	chr8:62823894-62823944	HNPCEpiC	eye:	n/a
19	chr8:62823894-62823944	GM19239	blood:	n/a
20	chr8:62823894-62823944	ProgFib	skin:	n/a
21	chr8:62823894-62823944	CMK	blood:	n/a
22	chr8:62823894-62823944	GM12878	blood:	n/a
23	chr8:62823894-62823944	U87	brain:	n/a
24	chr8:62823894-62823944	SK-N-SH	brain:	n/a
25	chr8:62823894-62823944	HCF	heart:	n/a
26	chr8:62823894-62823944	HL-60	blood:	n/a
27	chr8:62823894-62823944	NHBE	bronchial:	n/a
28	chr8:62823894-62823944	BE2_C	brain:	n/a
29	chr8:62823894-62823944	SKMC	muscle:	n/a
30	chr8:62823894-62823944	HEK293	kidney:	embryo
31	chr8:62823894-62823944	HCPEpiC	choroid plexus:	n/a
32	chr8:62823894-62823944	HUVEC	blood vessel:	n/a
33	chr8:62823894-62823944	ECC-1	luminal epithelium:	n/a
34	chr8:62823894-62823944	HRE	kidney:	n/a
35	chr8:62823894-62823944	HEEpiC	esophagus:	n/a
36	chr8:62823894-62823944	SK-N-SH_RA	brain:	n/a
37	chr8:62823894-62823944	HAEpiC	amniotic membrane:	n/a
38	chr8:62823894-62823944	HRCEpiC	kidney:	n/a
39	chr8:62823894-62823944	SK-N-MC	brain:	n/a
40	chr8:62823894-62823944	Hela-S3	cervix:	n/a
41	chr8:62823894-62823944	HRPEpiC	eye:	n/a
42	chr8:62823894-62823944	MCF10A-Er-Src	breast:	n/a
43	chr8:62823894-62823944	GM12891	blood:	n/a
44	chr8:62823894-62823944	AoSMC	blood vessel:	n/a
45	chr8:62823894-62823944	BJ	skin:	n/a
46	chr8:62823894-62823944	NT2-D1	testis:	n/a
47	chr8:62823894-62823944	LNCaP	prostate:	n/a
48	chr8:62823894-62823944	H1-hESC	embryonic stem cell:	embryo
49	chr8:62823894-62823944	Hepatocyte	liver:	n/a
50	chr8:62823894-62823944	Jurkat	blood:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:62815283..62816844-chr8:62823393..62825914,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000253544	CpG island

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024432	chr8:62086247-62898782	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv932198	chr8:62336705-62914562	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	esv2761430	chr8:62517980-62873803	Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv1015216	chr8:62517980-62873803	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
5	nsv611427	chr8:62733267-62848952	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv831338	chr8:62736394-62913048	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv1032414	chr8:62789246-62861376	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv982136	chr8:62816124-62828493	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv971593	chr8:62818439-62824449	Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:62823800-62824000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr8:62823800-62824000	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chr8:62823800-62824000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr8:62823800-62824600	Enhancers	H1 Cell Line	embryonic stem cell
5	chr8:62823800-62826200	Enhancers	HUES64 Cell Line	embryonic stem cell

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