Variant report

Variant	rs2488498
Chromosome Location	chr1:224224049-224224050
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	PAX5	chr1:224223976-224224272	GM12878	blood:	n/a	n/a
2	GATA2	chr1:224223993-224224247	K562	blood:	n/a	n/a
3	POLR2A	chr1:224223959-224224348	GM12878	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:224224049-224224099	AoSMC	blood vessel:	n/a
2	chr1:224224049-224224099	CMK	blood:	n/a
3	chr1:224224049-224224099	Hepatocyte	liver:	n/a
4	chr1:224224049-224224099	AG10803	skin:	n/a
5	chr1:224224049-224224099	HRE	kidney:	n/a
6	chr1:224224049-224224099	HRPEpiC	eye:	n/a
7	chr1:224224049-224224099	HL-60	blood:	n/a
8	chr1:224224049-224224099	GM12878	blood:	n/a
9	chr1:224224049-224224099	AG09319	gingival:	n/a
10	chr1:224224049-224224099	ECC-1	luminal epithelium:	n/a
11	chr1:224224049-224224099	SAEC	small airway:	n/a
12	chr1:224224049-224224099	HAEpiC	amniotic membrane:	n/a
13	chr1:224224049-224224099	AG04449	skin:	fetal
14	chr1:224224049-224224099	SKMC	muscle:	n/a
15	chr1:224224049-224224099	MCF-7	breast:	n/a
16	chr1:224224049-224224099	NT2-D1	testis:	n/a
17	chr1:224224049-224224099	HEEpiC	esophagus:	n/a
18	chr1:224224049-224224099	HUVEC	blood vessel:	n/a
19	chr1:224224049-224224099	PANC-1	pancreas:	n/a
20	chr1:224224049-224224099	HepG2	liver:	n/a
21	chr1:224224049-224224099	GM12891	blood:	n/a
22	chr1:224224049-224224099	HCF	heart:	n/a
23	chr1:224224049-224224099	HCM	heart:	n/a
24	chr1:224224049-224224099	U87	brain:	n/a
25	chr1:224224049-224224099	AG04450	lung:	fetal
26	chr1:224224049-224224099	Hela-S3	cervix:	n/a
27	chr1:224224049-224224099	HPAEpiC	pulmonary alveolar:	n/a
28	chr1:224224049-224224099	ProgFib	skin:	n/a
29	chr1:224224049-224224099	AG09309	skin:	n/a
30	chr1:224224049-224224099	BJ	skin:	n/a
31	chr1:224224049-224224099	LNCaP	prostate:	n/a
32	chr1:224224049-224224099	SK-N-SH_RA	brain:	n/a
33	chr1:224224049-224224099	HCT-116	colon:	n/a
34	chr1:224224049-224224099	PrEC	prostate:	n/a
35	chr1:224224049-224224099	NB4	blood:	n/a
36	chr1:224224049-224224099	NH-A	brain:	n/a
37	chr1:224224049-224224099	GM19239	blood:	n/a
38	chr1:224224049-224224099	MCF10A-Er-Src	breast:	n/a
39	chr1:224224049-224224099	Jurkat	blood:	n/a
40	chr1:224224049-224224099	NHDF-neo	bronchial:	n/a
41	chr1:224224049-224224099	GM06990	blood:	n/a
42	chr1:224224049-224224099	IMR90	lung:	fetal
43	chr1:224224049-224224099	HMEC	breast:	n/a
44	chr1:224224049-224224099	K562	blood:	n/a
45	chr1:224224049-224224099	HEK293	kidney:	embryo
46	chr1:224224049-224224099	GM12892	blood:	n/a
47	chr1:224224049-224224099	NHBE	bronchial:	n/a
48	chr1:224224049-224224099	SK-N-MC	brain:	n/a
49	chr1:224224049-224224099	Caco-2	colon:	n/a
50	chr1:224224049-224224099	A549	lung:	n/a

No data

Variant related genes	Relation type
ENSG00000229930	TF binding region
ENSG00000229930	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	esv2757772	chr1:223935220-224363163	Genic enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	esv2759000	chr1:223935220-224363163	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv873216	chr1:224075483-224230307	ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv427941	chr1:224085052-224363163	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
5	esv1847784	chr1:224185036-224227122	ZNF genes & repeats Weak transcription Enhancers Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	esv1795476	chr1:224186148-224226044	Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	esv16231	chr1:224204343-224241314	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv832692	chr1:224206536-224407717	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
9	nsv945320	chr1:224223816-224228051	Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	1 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	chr1:224223400-224225400	Enhancers	K562	blood

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