Variant report

Variant	rs370594996
Chromosome Location	chr2:87246237-87246238
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:12)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:12 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOXA1	chr2:87246100-87246715	HepG2	liver:	n/a	chr2:87246699-87246711
2	FOSL2	chr2:87246112-87246633	HepG2	liver:	n/a	n/a
3	TCF12	chr2:87246168-87246627	HepG2	liver:	n/a	n/a
4	FOSL2	chr2:87246087-87246700	HepG2	liver:	n/a	n/a
5	SP1	chr2:87246096-87246781	HepG2	liver:	n/a	chr2:87246122-87246132 chr2:87246435-87246449 chr2:87246123-87246132 chr2:87246122-87246132
6	JUND	chr2:87246228-87246588	HepG2	liver:	n/a	n/a
7	SIN3AK20	chr2:87246197-87246386	HepG2	liver:	n/a	n/a
8	ZBTB33	chr2:87246225-87246600	HepG2	liver:	n/a	n/a
9	RXRA	chr2:87246200-87246688	HepG2	liver:	n/a	n/a
10	RXRA	chr2:87246089-87246623	HepG2	liver:	n/a	n/a
11	HEY1	chr2:87246079-87246733	HepG2	liver:	n/a	n/a
12	TEAD4	chr2:87246178-87246667	HepG2	liver:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:87246221-87246271	BE2_C	brain:	n/a
2	chr2:87246221-87246271	NT2-D1	testis:	n/a
3	chr2:87246221-87246271	HMEC	breast:	n/a
4	chr2:87246221-87246271	AG10803	skin:	n/a
5	chr2:87246221-87246271	HepG2	liver:	n/a
6	chr2:87246221-87246271	AG09319	gingival:	n/a
7	chr2:87246221-87246271	AG09309	skin:	n/a
8	chr2:87246221-87246271	NH-A	brain:	n/a
9	chr2:87246221-87246271	Caco-2	colon:	n/a
10	chr2:87246221-87246271	HRPEpiC	eye:	n/a
11	chr2:87246221-87246271	ProgFib	skin:	n/a
12	chr2:87246221-87246271	SKMC	muscle:	n/a
13	chr2:87246221-87246271	T-47D	breast:	n/a
14	chr2:87246221-87246271	Hepatocyte	liver:	n/a
15	chr2:87246221-87246271	GM12892	blood:	n/a
16	chr2:87246221-87246271	AG04449	skin:	fetal
17	chr2:87246221-87246271	Hela-S3	cervix:	n/a
18	chr2:87246221-87246271	HIPEpiC	eye:	n/a
19	chr2:87246221-87246271	HL-60	blood:	n/a
20	chr2:87246221-87246271	SK-N-SH_RA	brain:	n/a
21	chr2:87246221-87246271	HPAEpiC	pulmonary alveolar:	n/a
22	chr2:87246221-87246271	HCF	heart:	n/a
23	chr2:87246221-87246271	PANC-1	pancreas:	n/a
24	chr2:87246221-87246271	HEEpiC	esophagus:	n/a
25	chr2:87246221-87246271	NHDF-neo	bronchial:	n/a
26	chr2:87246221-87246271	GM12878	blood:	n/a
27	chr2:87246221-87246271	AG04450	lung:	fetal
28	chr2:87246221-87246271	HCPEpiC	choroid plexus:	n/a
29	chr2:87246221-87246271	HAEpiC	amniotic membrane:	n/a
30	chr2:87246221-87246271	GM12891	blood:	n/a
31	chr2:87246221-87246271	PFSK-1	brain:	n/a
32	chr2:87246221-87246271	SK-N-MC	brain:	n/a
33	chr2:87246221-87246271	A549	lung:	n/a
34	chr2:87246221-87246271	U87	brain:	n/a
35	chr2:87246221-87246271	K562	blood:	n/a
36	chr2:87246221-87246271	GM06990	blood:	n/a
37	chr2:87246221-87246271	HNPCEpiC	eye:	n/a
38	chr2:87246221-87246271	MCF-7	breast:	n/a
39	chr2:87246221-87246271	RPTEC	kidney:	n/a
40	chr2:87246221-87246271	AoSMC	blood vessel:	n/a
41	chr2:87246221-87246271	BJ	skin:	n/a
42	chr2:87246221-87246271	NHBE	bronchial:	n/a
43	chr2:87246221-87246271	ECC-1	luminal epithelium:	n/a
44	chr2:87246221-87246271	HRCEpiC	kidney:	n/a
45	chr2:87246221-87246271	HEK293	kidney:	embryo
46	chr2:87246221-87246271	Jurkat	blood:	n/a
47	chr2:87246221-87246271	PrEC	prostate:	n/a
48	chr2:87246221-87246271	IMR90	lung:	fetal
49	chr2:87246221-87246271	SK-N-SH	brain:	n/a
50	chr2:87246221-87246271	CMK	blood:	n/a

No data

Variant related genes	Relation type
PLGLB1	TF binding region
PLGLB1	CpG island

Extended variants
information (count: 14 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532319	chr2:87024867-88005418	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	34 gene(s)	inside rSNPs	diseases
2	esv1800069	chr2:87056027-87885905	Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
3	nsv1010107	chr2:87105444-88052318	Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	30 gene(s)	inside rSNPs	diseases
4	nsv519198	chr2:87108211-87771196	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
5	nsv874475	chr2:87116061-87258087	Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island lncRNA	5 gene(s)	inside rSNPs	diseases
6	esv33176	chr2:87122115-87325330	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	esv1803562	chr2:87126250-88038663	Strong transcription Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases
8	nsv997663	chr2:87126250-88052318	Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
9	esv2757815	chr2:87155912-88042080	Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases
10	nsv961803	chr2:87237012-87250650	Inactive region	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases
11	nsv979034	chr2:87237012-87276522	Weak transcription	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases
12	esv1796172	chr2:87245762-88042080	Enhancers Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
13	nsv428398	chr2:87245762-88042080	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
14	esv1801752	chr2:87245762-88123177	ZNF genes & repeats Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 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
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