Variant report

Variant	rs547028161
Chromosome Location	chr8:1197512-1197513
allele	-/G
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	BCL11A	chr8:1197352-1197554	GM12878	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:1197488-1197538	HL-60	blood:	n/a
2	chr8:1197488-1197538	K562	blood:	n/a
3	chr8:1197488-1197538	SK-N-SH_RA	brain:	n/a
4	chr8:1197488-1197538	NH-A	brain:	n/a
5	chr8:1197488-1197538	HCM	heart:	n/a
6	chr8:1197488-1197538	CMK	blood:	n/a
7	chr8:1197488-1197538	Hepatocyte	liver:	n/a
8	chr8:1197488-1197538	AG10803	skin:	n/a
9	chr8:1197488-1197538	AoSMC	blood vessel:	n/a
10	chr8:1197488-1197538	HepG2	liver:	n/a
11	chr8:1197488-1197538	AG04450	lung:	fetal
12	chr8:1197488-1197538	MCF10A-Er-Src	breast:	n/a
13	chr8:1197488-1197538	PrEC	prostate:	n/a
14	chr8:1197488-1197538	HIPEpiC	eye:	n/a
15	chr8:1197488-1197538	A549	lung:	n/a
16	chr8:1197488-1197538	NB4	blood:	n/a
17	chr8:1197488-1197538	U87	brain:	n/a
18	chr8:1197488-1197538	MCF-7	breast:	n/a
19	chr8:1197488-1197538	AG09309	skin:	n/a
20	chr8:1197488-1197538	ovcar-3	ovarian:	n/a
21	chr8:1197488-1197538	BE2_C	brain:	n/a
22	chr8:1197488-1197538	IMR90	lung:	fetal
23	chr8:1197488-1197538	Caco-2	colon:	n/a
24	chr8:1197488-1197538	GM12892	blood:	n/a
25	chr8:1197488-1197538	PANC-1	pancreas:	n/a
26	chr8:1197488-1197538	H1-hESC	embryonic stem cell:	embryo
27	chr8:1197488-1197538	GM12878	blood:	n/a
28	chr8:1197488-1197538	Jurkat	blood:	n/a
29	chr8:1197488-1197538	RPTEC	kidney:	n/a
30	chr8:1197488-1197538	LNCaP	prostate:	n/a
31	chr8:1197488-1197538	HCT-116	colon:	n/a
32	chr8:1197488-1197538	Hela-S3	cervix:	n/a
33	chr8:1197488-1197538	NT2-D1	testis:	n/a
34	chr8:1197488-1197538	AG09319	gingival:	n/a
35	chr8:1197488-1197538	ECC-1	luminal epithelium:	n/a
36	chr8:1197488-1197538	PFSK-1	brain:	n/a
37	chr8:1197488-1197538	HCF	heart:	n/a
38	chr8:1197488-1197538	T-47D	breast:	n/a
39	chr8:1197488-1197538	SK-N-SH	brain:	n/a
40	chr8:1197488-1197538	AG04449	skin:	fetal
41	chr8:1197488-1197538	HAEpiC	amniotic membrane:	n/a
42	chr8:1197488-1197538	NHBE	bronchial:	n/a
43	chr8:1197488-1197538	HCPEpiC	choroid plexus:	n/a
44	chr8:1197488-1197538	NHDF-neo	bronchial:	n/a
45	chr8:1197488-1197538	BJ	skin:	n/a
46	chr8:1197488-1197538	HEEpiC	esophagus:	n/a
47	chr8:1197488-1197538	ProgFib	skin:	n/a
48	chr8:1197488-1197538	SKMC	muscle:	n/a
49	chr8:1197488-1197538	HUVEC	blood vessel:	n/a
50	chr8:1197488-1197538	HNPCEpiC	eye:	n/a

No data

Variant related genes	Relation type
ENSG00000254269	TF binding region
ENSG00000254269	CpG island

Extended variants
information (count: 36 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:36 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1032939	chr8:542267-1224928	Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv539287	chr8:542267-1224928	Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv1016213	chr8:560954-1233376	Enhancers ZNF genes & repeats Strong transcription Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv995101	chr8:561175-1319861	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	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
6	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
7	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
8	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
9	nsv1015330	chr8:954180-1300914	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats 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	10 gene(s)	inside rSNPs	diseases
10	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
11	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
12	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
13	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
14	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
15	nsv1029751	chr8:1143494-1201728	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
16	nsv609500	chr8:1150705-1283208	Enhancers Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
17	nsv1030489	chr8:1162641-1268880	Active TSS Bivalent Enhancer ZNF genes & repeats Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
18	esv1830601	chr8:1184708-1199054	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island lncRNA	2 gene(s)	inside rSNPs	diseases
19	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
20	esv1807968	chr8:1184908-1198894	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer	TF binding region CpG island lncRNA	2 gene(s)	inside rSNPs	diseases
21	esv1828655	chr8:1184908-1198894	ZNF genes & repeats Weak transcription Bivalent Enhancer Enhancers	TF binding region CpG island lncRNA	2 gene(s)	inside rSNPs	diseases
22	esv1850751	chr8:1184908-1198894	ZNF genes & repeats Bivalent Enhancer Enhancers Weak transcription	TF binding region CpG island lncRNA	2 gene(s)	inside rSNPs	diseases
23	esv1802516	chr8:1185045-1198555	ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases
24	esv1813668	chr8:1185045-1198555	ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases
25	esv1823030	chr8:1185045-1198555	ZNF genes & repeats Bivalent Enhancer Enhancers Weak transcription	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases
26	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
27	esv3432989	chr8:1195845-1199543	ZNF genes & repeats Weak transcription Enhancers	TF binding region CpG island lncRNA	2 gene(s)	inside rSNPs	diseases
28	esv18617	chr8:1196689-1198886	ZNF genes & repeats Weak transcription Enhancers	TF binding region CpG island lncRNA	2 gene(s)	inside rSNPs	diseases
29	esv1810829	chr8:1196838-1198818	ZNF genes & repeats Weak transcription Enhancers	TF binding region CpG island lncRNA	2 gene(s)	inside rSNPs	diseases
30	nsv609501	chr8:1196900-1197947	Weak transcription ZNF genes & repeats Enhancers	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases
31	esv2522854	chr8:1197028-1199603	ZNF genes & repeats Weak transcription Enhancers	TF binding region CpG island lncRNA	2 gene(s)	inside rSNPs	diseases
32	esv3357475	chr8:1197060-1197965	ZNF genes & repeats Enhancers Weak transcription	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases
33	esv3922	chr8:1197060-1198623	Enhancers ZNF genes & repeats Weak transcription	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases
34	esv3359087	chr8:1197073-1198605	Weak transcription ZNF genes & repeats Enhancers	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases
35	esv3418353	chr8:1197135-1197617	ZNF genes & repeats Weak transcription Enhancers	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases
36	esv3366097	chr8:1197293-1198306	Weak transcription ZNF genes & repeats	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:1197200-1198200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr8:1197200-1199200	Weak transcription	Brain Cingulate Gyrus	brain
3	chr8:1197200-1201800	Weak transcription	Gastric	stomach
4	chr8:1197400-1201600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr8:1197400-1202000	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr8:1197400-1202000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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