Variant report

Variant	rs562553697
Chromosome Location	chr1:191120851-191120852
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RAD21	chr1:191120780-191120949	H1-hESC	embryonic stem cell:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:191120830-191120880	HCT-116	colon:	n/a
2	chr1:191120830-191120880	BJ	skin:	n/a
3	chr1:191120830-191120880	NHBE	bronchial:	n/a
4	chr1:191120830-191120880	NHDF-neo	bronchial:	n/a
5	chr1:191120830-191120880	AG09319	gingival:	n/a
6	chr1:191120830-191120880	NT2-D1	testis:	n/a
7	chr1:191120830-191120880	IMR90	lung:	fetal
8	chr1:191120830-191120880	GM12892	blood:	n/a
9	chr1:191120830-191120880	U87	brain:	n/a
10	chr1:191120830-191120880	HNPCEpiC	eye:	n/a
11	chr1:191120830-191120880	HCM	heart:	n/a
12	chr1:191120830-191120880	HCPEpiC	choroid plexus:	n/a
13	chr1:191120830-191120880	RPTEC	kidney:	n/a
14	chr1:191120830-191120880	HL-60	blood:	n/a
15	chr1:191120830-191120880	ovcar-3	ovarian:	n/a
16	chr1:191120830-191120880	HRCEpiC	kidney:	n/a
17	chr1:191120830-191120880	HAEpiC	amniotic membrane:	n/a
18	chr1:191120830-191120880	Hepatocyte	liver:	n/a
19	chr1:191120830-191120880	T-47D	breast:	n/a
20	chr1:191120830-191120880	MCF-7	breast:	n/a
21	chr1:191120830-191120880	HRE	kidney:	n/a
22	chr1:191120830-191120880	AG10803	skin:	n/a
23	chr1:191120830-191120880	AoSMC	blood vessel:	n/a
24	chr1:191120830-191120880	BE2_C	brain:	n/a
25	chr1:191120830-191120880	PANC-1	pancreas:	n/a
26	chr1:191120830-191120880	SK-N-SH	brain:	n/a
27	chr1:191120830-191120880	NB4	blood:	n/a
28	chr1:191120830-191120880	PrEC	prostate:	n/a
29	chr1:191120830-191120880	ECC-1	luminal epithelium:	n/a
30	chr1:191120830-191120880	ProgFib	skin:	n/a
31	chr1:191120830-191120880	HepG2	liver:	n/a
32	chr1:191120830-191120880	Jurkat	blood:	n/a
33	chr1:191120830-191120880	HRPEpiC	eye:	n/a
34	chr1:191120830-191120880	SKMC	muscle:	n/a
35	chr1:191120830-191120880	HCF	heart:	n/a
36	chr1:191120830-191120880	AG04450	lung:	fetal
37	chr1:191120830-191120880	SAEC	small airway:	n/a
38	chr1:191120830-191120880	Caco-2	colon:	n/a
39	chr1:191120830-191120880	GM19239	blood:	n/a
40	chr1:191120830-191120880	HIPEpiC	eye:	n/a
41	chr1:191120830-191120880	MCF10A-Er-Src	breast:	n/a
42	chr1:191120830-191120880	NH-A	brain:	n/a
43	chr1:191120830-191120880	AG04449	skin:	fetal
44	chr1:191120830-191120880	HMEC	breast:	n/a
45	chr1:191120830-191120880	CMK	blood:	n/a
46	chr1:191120830-191120880	HUVEC	blood vessel:	n/a
47	chr1:191120830-191120880	GM12891	blood:	n/a
48	chr1:191120830-191120880	AG09309	skin:	n/a
49	chr1:191120830-191120880	LNCaP	prostate:	n/a
50	chr1:191120830-191120880	HPAEpiC	pulmonary alveolar:	n/a

No data

Variant related genes	Relation type
HNRNPA1P46	TF binding region
HNRNPA1P46	CpG island

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

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv997479	chr1:190609151-191388347	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1006871	chr1:190808578-191197488	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv535248	chr1:190808578-191197488	ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv998980	chr1:190812829-191509034	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv535249	chr1:190812829-191509034	Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv1002498	chr1:190871238-191159750	Enhancers Active TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv872788	chr1:190896859-191693460	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	esv1823987	chr1:190929003-191484339	Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv466938	chr1:190963860-191349614	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	nsv548576	chr1:190963860-191349614	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
11	esv2755601	chr1:191091343-191282343	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
12	esv2753281	chr1:191091343-191371343	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
13	esv2753913	chr1:191113343-191376343	Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
14	esv2755743	chr1:191113343-191376343	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
15	nsv872794	chr1:191117027-191391663	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:0 , 50 per page) page:

No data

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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