Variant report

Variant	rs58452981
Chromosome Location	chr8:1319194-1319195
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

No data

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:1319194-1319244	T-47D	breast:	n/a
2	chr8:1319194-1319244	SK-N-SH_RA	brain:	n/a
3	chr8:1319194-1319244	Jurkat	blood:	n/a
4	chr8:1319194-1319244	SKMC	muscle:	n/a
5	chr8:1319194-1319244	SAEC	small airway:	n/a
6	chr8:1319194-1319244	GM12892	blood:	n/a
7	chr8:1319194-1319244	MCF10A-Er-Src	breast:	n/a
8	chr8:1319194-1319244	HRCEpiC	kidney:	n/a
9	chr8:1319194-1319244	HRE	kidney:	n/a
10	chr8:1319194-1319244	GM06990	blood:	n/a
11	chr8:1319194-1319244	LNCaP	prostate:	n/a
12	chr8:1319194-1319244	HNPCEpiC	eye:	n/a
13	chr8:1319194-1319244	SK-N-SH	brain:	n/a
14	chr8:1319194-1319244	HPAEpiC	pulmonary alveolar:	n/a
15	chr8:1319194-1319244	HEK293	kidney:	embryo
16	chr8:1319194-1319244	A549	lung:	n/a
17	chr8:1319194-1319244	AG09309	skin:	n/a
18	chr8:1319194-1319244	AG10803	skin:	n/a
19	chr8:1319194-1319244	MCF-7	breast:	n/a
20	chr8:1319194-1319244	CMK	blood:	n/a
21	chr8:1319194-1319244	HCF	heart:	n/a
22	chr8:1319194-1319244	HRPEpiC	eye:	n/a
23	chr8:1319194-1319244	HMEC	breast:	n/a
24	chr8:1319194-1319244	HIPEpiC	eye:	n/a
25	chr8:1319194-1319244	Hepatocyte	liver:	n/a
26	chr8:1319194-1319244	HAEpiC	amniotic membrane:	n/a
27	chr8:1319194-1319244	NH-A	brain:	n/a
28	chr8:1319194-1319244	RPTEC	kidney:	n/a
29	chr8:1319194-1319244	AG04450	lung:	fetal
30	chr8:1319194-1319244	NHBE	bronchial:	n/a
31	chr8:1319194-1319244	AG04449	skin:	fetal
32	chr8:1319194-1319244	HCPEpiC	choroid plexus:	n/a
33	chr8:1319194-1319244	NT2-D1	testis:	n/a
34	chr8:1319194-1319244	BJ	skin:	n/a
35	chr8:1319194-1319244	HCT-116	colon:	n/a
36	chr8:1319194-1319244	K562	blood:	n/a
37	chr8:1319194-1319244	NB4	blood:	n/a
38	chr8:1319194-1319244	HL-60	blood:	n/a
39	chr8:1319194-1319244	Hela-S3	cervix:	n/a
40	chr8:1319194-1319244	GM12891	blood:	n/a
41	chr8:1319194-1319244	GM19239	blood:	n/a
42	chr8:1319194-1319244	BE2_C	brain:	n/a
43	chr8:1319194-1319244	Caco-2	colon:	n/a
44	chr8:1319194-1319244	AG09319	gingival:	n/a
45	chr8:1319194-1319244	IMR90	lung:	fetal
46	chr8:1319194-1319244	NHDF-neo	bronchial:	n/a
47	chr8:1319194-1319244	SK-N-MC	brain:	n/a
48	chr8:1319194-1319244	PrEC	prostate:	n/a
49	chr8:1319194-1319244	GM12878	blood:	n/a
50	chr8:1319194-1319244	HCM	heart:	n/a

No data

Variant related genes	Relation type
ENSG00000260721	CpG island

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs57941582	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58087050	1.00[EUR][1000 genomes]
rs73536518	1.00[EUR][1000 genomes]

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	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	nsv465273	chr8:1229149-1319724	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
16	nsv470165	chr8:1229149-1319724	Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
17	nsv609502	chr8:1229149-1319724	ZNF genes & repeats Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
18	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
19	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
20	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
21	nsv519142	chr8:1292488-1319724	ZNF genes & repeats Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
22	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
23	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
24	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
25	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
26	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
27	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
28	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

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:1315800-1336800	Weak transcription	Right Atrium	heart
2	chr8:1316400-1320000	Weak transcription	Brain Anterior Caudate	brain
3	chr8:1316400-1320800	Weak transcription	Colon Smooth Muscle	Colon
4	chr8:1316400-1321000	Weak transcription	Brain Angular Gyrus	brain
5	chr8:1316600-1319200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr8:1316600-1320400	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr8:1316600-1320600	Weak transcription	Brain Cingulate Gyrus	brain
8	chr8:1316600-1321000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr8:1317200-1319200	Weak transcription	Fetal Brain Female	brain
10	chr8:1317800-1320600	Weak transcription	Adipose Nuclei	Adipose
11	chr8:1318000-1319400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr8:1318000-1320400	Weak transcription	Fetal Brain Male	brain
13	chr8:1318800-1320400	Enhancers	Brain Hippocampus Middle	brain
14	chr8:1319000-1319200	Enhancers	Skeletal Muscle Male	skeletal muscle
15	chr8:1319000-1319200	Enhancers	Skeletal Muscle Female	skeletal muscle
16	chr8:1319000-1319200	Enhancers	Stomach Smooth Muscle	stomach
17	chr8:1319000-1320600	Weak transcription	Rectal Smooth Muscle	rectum

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