Variant report

Variant	rs542136938
Chromosome Location	chr8:1322516-1322517
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr8:1322438-1322808	HepG2	liver:	n/a	n/a
2	CEBPB	chr8:1322423-1322797	K562	blood:	n/a	n/a
3	CEBPB	chr8:1322448-1322801	A549	lung:	n/a	n/a
4	MYC	chr8:1322454-1322778	H1-hESC	embryonic stem cell:	n/a	n/a
5	NANOG	chr8:1322437-1322738	H1-hESC	embryonic stem cell:	n/a	chr8:1322533-1322542
6	CEBPB	chr8:1322371-1322846	A549	lung:	n/a	n/a
7	CEBPB	chr8:1322479-1322814	MCF-7	breast:	n/a	n/a
8	CEBPB	chr8:1322509-1322724	HepG2	liver:	n/a	n/a
9	CEBPB	chr8:1322477-1322677	HepG2	liver:	n/a	n/a
10	CEBPB	chr8:1322445-1322799	Hela-S3	cervix:	n/a	n/a
11	CEBPB	chr8:1322438-1322805	HepG2	liver:	n/a	n/a
12	CEBPB	chr8:1322356-1322878	H1-hESC	embryonic stem cell:	n/a	n/a
13	CEBPB	chr8:1322430-1322804	K562	blood:	n/a	n/a
14	BACH1	chr8:1322367-1323141	H1-hESC	embryonic stem cell:	n/a	n/a
15	CEBPB	chr8:1322468-1322802	ECC-1	luminal epithelium:	n/a	n/a
16	JUND	chr8:1322437-1322821	H1-hESC	embryonic stem cell:	n/a	chr8:1322635-1322647

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DLGAP2-2	chr8:1322434-1323312	XLOC_006686
2	lnc-DLGAP2-2	chr8:1321806-1322630	NONHSAT124664

Variant related genes	Relation type
ENSG00000260721	TF binding region

Extended variants
information (count: 28 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026194	chr8:600959-1467446	Weak transcription Strong transcription Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv1028487	chr8:674077-1642737	Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv429833	chr8:720491-1514173	Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv916926	chr8:770001-1354516	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
5	nsv1031673	chr8:968373-1376139	ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv915688	chr8:977114-1368665	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	nsv932163	chr8:977218-1628286	Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
8	nsv949592	chr8:1108087-1561756	Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
9	nsv1026673	chr8:1142469-1679673	Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
10	esv1847286	chr8:1184708-1337250	Flanking Active TSS ZNF genes & repeats Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
11	nsv1020410	chr8:1193877-1358472	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
12	nsv1017330	chr8:1226530-1339928	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
13	nsv1030376	chr8:1227213-1340313	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
14	nsv889697	chr8:1238564-1861971	Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
15	nsv889698	chr8:1283208-1366526	ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
16	nsv889699	chr8:1291289-1398280	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
17	nsv609503	chr8:1292488-1327755	Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
18	nsv889700	chr8:1297333-1336578	Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
19	esv1828967	chr8:1298319-1410613	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
20	nsv1017297	chr8:1300854-1383786	Enhancers ZNF genes & repeats Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
21	nsv539294	chr8:1300854-1383786	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
22	nsv609509	chr8:1301110-1589888	Bivalent Enhancer Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
23	nsv609510	chr8:1315886-1339731	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
24	nsv1028612	chr8:1319801-1468340	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
25	nsv539295	chr8:1319801-1468340	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
26	nsv1031375	chr8:1320657-1722050	Enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
27	esv3353508	chr8:1322145-1325343	Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Enhancers ZNF genes & repeats Active TSS	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases
28	nsv6044	chr8:1322453-1373175	Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:1315800-1336800	Weak transcription	Right Atrium	heart
2	chr8:1320200-1323000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr8:1320400-1323200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr8:1321400-1323200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr8:1321800-1323200	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
6	chr8:1321800-1323400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
7	chr8:1321800-1324400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr8:1322000-1322600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr8:1322000-1322600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
10	chr8:1322000-1322800	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
11	chr8:1322000-1322800	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
12	chr8:1322000-1323200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr8:1322000-1323400	Bivalent Enhancer	H9 Cell Line	embryonic stem cell
14	chr8:1322000-1324400	Weak transcription	Fetal Brain Female	brain
15	chr8:1322000-1326400	Weak transcription	Spleen	Spleen
16	chr8:1322200-1323000	Bivalent Enhancer	HepG2	liver
17	chr8:1322200-1323200	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
18	chr8:1322200-1323200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr8:1322400-1322600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
20	chr8:1322400-1322600	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
21	chr8:1322400-1322600	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr8:1322400-1322600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
23	chr8:1322400-1322800	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr8:1322400-1322800	Active TSS	iPS-15b Cell Line	embryonic stem cell
25	chr8:1322400-1322800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
26	chr8:1322400-1322800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
27	chr8:1322400-1322800	Enhancers	Brain Anterior Caudate	brain
28	chr8:1322400-1324200	Weak transcription	Fetal Brain Male	brain

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