Variant report

Variant	rs377353997
Chromosome Location	chr5:99381973-99381974
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:21)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:21 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SPI1	chr5:99381835-99381985	K562	blood:	n/a	n/a
2	PAX5	chr5:99381908-99382465	GM12878	blood:	n/a	n/a
3	SIX5	chr5:99381798-99382020	K562	blood:	n/a	n/a
4	PAX5	chr5:99381813-99382294	GM12878	blood:	n/a	n/a
5	SIX5	chr5:99381824-99381986	K562	blood:	n/a	n/a
6	HEY1	chr5:99381818-99382298	HepG2	liver:	n/a	n/a
7	RXRA	chr5:99381911-99382333	HepG2	liver:	n/a	n/a
8	SIX5	chr5:99381812-99382059	GM12878	blood:	n/a	n/a
9	IRF4	chr5:99381909-99382313	GM12878	blood:	n/a	n/a
10	HEY1	chr5:99381854-99381973	HepG2	liver:	n/a	n/a
11	SP1	chr5:99381811-99382364	HepG2	liver:	n/a	n/a
12	HEY1	chr5:99381774-99382292	K562	blood:	n/a	n/a
13	POU2F2	chr5:99381733-99382469	GM12878	blood:	n/a	n/a
14	FOXA1	chr5:99381904-99382475	HepG2	liver:	n/a	n/a
15	IRF4	chr5:99381908-99382464	GM12878	blood:	n/a	n/a
16	BHLHE40	chr5:99381766-99382378	HepG2	liver:	n/a	n/a
17	FOSL2	chr5:99381807-99382290	HepG2	liver:	n/a	chr5:99381907-99381915
18	GABPA	chr5:99381830-99382286	Hela-S3	cervix:	n/a	n/a
19	BCL11A	chr5:99381820-99382422	GM12878	blood:	n/a	n/a
20	TAF1	chr5:99381781-99381980	Hela-S3	cervix:	n/a	n/a
21	FOSL2	chr5:99381795-99382511	HepG2	liver:	n/a	chr5:99381907-99381915

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:99381964-99382014	HMEC	breast:	n/a
2	chr5:99381964-99382014	HCPEpiC	choroid plexus:	n/a
3	chr5:99381964-99382014	GM12891	blood:	n/a
4	chr5:99381964-99382014	HIPEpiC	eye:	n/a
5	chr5:99381964-99382014	BJ	skin:	n/a
6	chr5:99381964-99382014	NHBE	bronchial:	n/a
7	chr5:99381964-99382014	H1-hESC	embryonic stem cell:	embryo
8	chr5:99381964-99382014	GM12878	blood:	n/a
9	chr5:99381964-99382014	HRPEpiC	eye:	n/a
10	chr5:99381964-99382014	AG09309	skin:	n/a
11	chr5:99381964-99382014	AG10803	skin:	n/a
12	chr5:99381964-99382014	HCM	heart:	n/a
13	chr5:99381964-99382014	PANC-1	pancreas:	n/a
14	chr5:99381964-99382014	HCT-116	colon:	n/a
15	chr5:99381964-99382014	HRE	kidney:	n/a
16	chr5:99381964-99382014	AG09319	gingival:	n/a
17	chr5:99381964-99382014	GM19239	blood:	n/a
18	chr5:99381964-99382014	NB4	blood:	n/a
19	chr5:99381964-99382014	SK-N-SH_RA	brain:	n/a
20	chr5:99381964-99382014	HPAEpiC	pulmonary alveolar:	n/a
21	chr5:99381964-99382014	HRCEpiC	kidney:	n/a
22	chr5:99381964-99382014	T-47D	breast:	n/a
23	chr5:99381964-99382014	RPTEC	kidney:	n/a
24	chr5:99381964-99382014	Hepatocyte	liver:	n/a
25	chr5:99381964-99382014	HEEpiC	esophagus:	n/a
26	chr5:99381964-99382014	PFSK-1	brain:	n/a
27	chr5:99381964-99382014	ovcar-3	ovarian:	n/a
28	chr5:99381964-99382014	MCF-7	breast:	n/a
29	chr5:99381964-99382014	ECC-1	luminal epithelium:	n/a
30	chr5:99381964-99382014	SK-N-SH	brain:	n/a
31	chr5:99381964-99382014	NT2-D1	testis:	n/a
32	chr5:99381964-99382014	SK-N-MC	brain:	n/a
33	chr5:99381964-99382014	LNCaP	prostate:	n/a
34	chr5:99381964-99382014	GM12892	blood:	n/a
35	chr5:99381964-99382014	GM06990	blood:	n/a
36	chr5:99381964-99382014	SAEC	small airway:	n/a
37	chr5:99381964-99382014	SKMC	muscle:	n/a
38	chr5:99381964-99382014	HAEpiC	amniotic membrane:	n/a
39	chr5:99381964-99382014	HCF	heart:	n/a
40	chr5:99381964-99382014	Jurkat	blood:	n/a
41	chr5:99381964-99382014	HL-60	blood:	n/a
42	chr5:99381964-99382014	CMK	blood:	n/a
43	chr5:99381964-99382014	NHDF-neo	bronchial:	n/a
44	chr5:99381964-99382014	HNPCEpiC	eye:	n/a
45	chr5:99381964-99382014	A549	lung:	n/a
46	chr5:99381964-99382014	MCF10A-Er-Src	breast:	n/a
47	chr5:99381964-99382014	HepG2	liver:	n/a
48	chr5:99381964-99382014	IMR90	lung:	fetal
49	chr5:99381964-99382014	Hela-S3	cervix:	n/a
50	chr5:99381964-99382014	Caco-2	colon:	n/a

No data

Variant related genes	Relation type
ENSG00000264839	TF binding region
ENSG00000270230	TF binding region
ENSG00000264839	CpG island
ENSG00000270230	CpG island

Extended variants
information (count: 37 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:37 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3509855	chr5:98919847-99394935	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	esv3509856	chr5:98919847-99394935	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv1031945	chr5:98976665-99503539	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	nsv521463	chr5:99074392-99539933	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
5	esv2758006	chr5:99207674-99846255	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
6	esv2759359	chr5:99207674-99883371	Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
7	nsv882438	chr5:99279767-99600237	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
8	esv1805126	chr5:99298081-99476578	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
9	nsv830424	chr5:99298081-99476578	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
10	nsv428118	chr5:99298081-99476578	Enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
11	esv1792320	chr5:99298081-99509439	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
12	nsv432782	chr5:99304875-99446176	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
13	nsv432783	chr5:99304875-99536420	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
14	nsv882439	chr5:99306483-99387066	Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
15	nsv432784	chr5:99317040-99446176	Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
16	nsv1031008	chr5:99317040-99448356	Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
17	nsv1025183	chr5:99322292-99395055	Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
18	nsv1023043	chr5:99322292-99446176	ZNF genes & repeats Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
19	nsv1031609	chr5:99322292-99446756	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
20	nsv1026906	chr5:99322292-99448356	Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
21	esv33013	chr5:99322707-99445769	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
22	nsv599159	chr5:99324810-99385107	Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
23	nsv599160	chr5:99324810-99390727	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
24	nsv599161	chr5:99325303-99420600	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
25	nsv517073	chr5:99331484-99387360	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
26	nsv599162	chr5:99331484-99387360	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
27	nsv882440	chr5:99332696-99468680	Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
28	nsv882441	chr5:99362737-99465252	Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
29	nsv882442	chr5:99362737-99478428	Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
30	nsv10729	chr5:99380706-99392925	Inactive region	TF binding region CpG island lncRNA	11 gene(s)	inside rSNPs	diseases
31	esv12087	chr5:99380988-99391856	Inactive region	TF binding region CpG island lncRNA	11 gene(s)	inside rSNPs	diseases
32	nsv823155	chr5:99380988-99391856	Inactive region	TF binding region CpG island lncRNA	11 gene(s)	inside rSNPs	diseases
33	nsv968968	chr5:99381150-99390564	Inactive region	TF binding region CpG island lncRNA	10 gene(s)	inside rSNPs	diseases
34	nsv823156	chr5:99381712-99390413	Inactive region	TF binding region CpG island lncRNA	10 gene(s)	inside rSNPs	diseases
35	nsv819839	chr5:99381741-99390460	Inactive region	TF binding region CpG island lncRNA	10 gene(s)	inside rSNPs	diseases
36	esv1794679	chr5:99381759-99390601	Inactive region	TF binding region CpG island lncRNA	10 gene(s)	inside rSNPs	diseases
37	esv1851209	chr5:99381759-99390601	Inactive region	TF binding region CpG island lncRNA	10 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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