Variant report

Variant	rs73528846
Chromosome Location	chr8:1320357-1320358
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TAF1	chr8:1320261-1320560	HepG2	liver:	n/a	n/a
2	POLR2A	chr8:1320346-1320451	MCF-7	breast:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:1320357-1320407	SAEC	small airway:	n/a
2	chr8:1320357-1320407	GM12891	blood:	n/a
3	chr8:1320357-1320407	GM12878	blood:	n/a
4	chr8:1320357-1320407	Caco-2	colon:	n/a
5	chr8:1320357-1320407	MCF-7	breast:	n/a
6	chr8:1320357-1320407	HL-60	blood:	n/a
7	chr8:1320357-1320407	MCF10A-Er-Src	breast:	n/a
8	chr8:1320357-1320407	K562	blood:	n/a
9	chr8:1320357-1320407	Jurkat	blood:	n/a
10	chr8:1320357-1320407	HIPEpiC	eye:	n/a
11	chr8:1320357-1320407	SK-N-SH_RA	brain:	n/a
12	chr8:1320357-1320407	NHBE	bronchial:	n/a
13	chr8:1320357-1320407	ovcar-3	ovarian:	n/a
14	chr8:1320357-1320407	NT2-D1	testis:	n/a
15	chr8:1320357-1320407	SK-N-SH	brain:	n/a
16	chr8:1320357-1320407	Hela-S3	cervix:	n/a
17	chr8:1320357-1320407	NH-A	brain:	n/a
18	chr8:1320357-1320407	A549	lung:	n/a
19	chr8:1320357-1320407	LNCaP	prostate:	n/a
20	chr8:1320357-1320407	T-47D	breast:	n/a
21	chr8:1320357-1320407	BE2_C	brain:	n/a
22	chr8:1320357-1320407	Hepatocyte	liver:	n/a
23	chr8:1320357-1320407	HAEpiC	amniotic membrane:	n/a
24	chr8:1320357-1320407	AG09309	skin:	n/a
25	chr8:1320357-1320407	NB4	blood:	n/a
26	chr8:1320357-1320407	HRPEpiC	eye:	n/a
27	chr8:1320357-1320407	HNPCEpiC	eye:	n/a
28	chr8:1320357-1320407	AG10803	skin:	n/a
29	chr8:1320357-1320407	PFSK-1	brain:	n/a
30	chr8:1320357-1320407	HCM	heart:	n/a
31	chr8:1320357-1320407	RPTEC	kidney:	n/a
32	chr8:1320357-1320407	HepG2	liver:	n/a
33	chr8:1320357-1320407	U87	brain:	n/a
34	chr8:1320357-1320407	HUVEC	blood vessel:	n/a
35	chr8:1320357-1320407	ECC-1	luminal epithelium:	n/a
36	chr8:1320357-1320407	CMK	blood:	n/a
37	chr8:1320357-1320407	GM06990	blood:	n/a
38	chr8:1320357-1320407	HCT-116	colon:	n/a
39	chr8:1320357-1320407	HCPEpiC	choroid plexus:	n/a
40	chr8:1320357-1320407	HEEpiC	esophagus:	n/a
41	chr8:1320357-1320407	HMEC	breast:	n/a
42	chr8:1320357-1320407	AG04449	skin:	fetal
43	chr8:1320357-1320407	H1-hESC	embryonic stem cell:	embryo
44	chr8:1320357-1320407	GM19239	blood:	n/a
45	chr8:1320357-1320407	AG09319	gingival:	n/a
46	chr8:1320357-1320407	ProgFib	skin:	n/a
47	chr8:1320357-1320407	HEK293	kidney:	embryo
48	chr8:1320357-1320407	PANC-1	pancreas:	n/a
49	chr8:1320357-1320407	GM12892	blood:	n/a
50	chr8:1320357-1320407	HPAEpiC	pulmonary alveolar:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:1303203..1306148-chr8:1319622..1321225,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000260721	TF binding region
ENSG00000260721	CpG island

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs17063951	1.00[ASN][1000 genomes]
rs17063956	1.00[EUR][1000 genomes]
rs57941582	1.00[AMR][1000 genomes]
rs58300654	1.00[EUR][1000 genomes]
rs58692130	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60901552	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6981988	1.00[AMR][1000 genomes]
rs72507640	1.00[EUR][1000 genomes]
rs72507642	1.00[EUR][1000 genomes]
rs72507649	1.00[EUR][1000 genomes]
rs72507650	1.00[EUR][1000 genomes]
rs72507651	1.00[EUR][1000 genomes]
rs72507652	1.00[EUR][1000 genomes]
rs73528806	0.84[AFR][1000 genomes]
rs73528807	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73528810	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73528813	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73528822	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73532668	1.00[AMR][1000 genomes]
rs7823071	1.00[AMR][1000 genomes]
rs7827908	1.00[AMR][1000 genomes]
rs7829338	1.00[AMR][1000 genomes]
rs7835729	1.00[AMR][1000 genomes]
rs7837285	1.00[AMR][1000 genomes]
rs7840234	1.00[AMR][1000 genomes]
rs7840515	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:25 , 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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:1315800-1336800	Weak transcription	Right Atrium	heart
2	chr8:1316400-1320800	Weak transcription	Colon Smooth Muscle	Colon
3	chr8:1316400-1321000	Weak transcription	Brain Angular Gyrus	brain
4	chr8:1316600-1320400	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr8:1316600-1320600	Weak transcription	Brain Cingulate Gyrus	brain
6	chr8:1316600-1321000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr8:1317800-1320600	Weak transcription	Adipose Nuclei	Adipose
8	chr8:1318000-1320400	Weak transcription	Fetal Brain Male	brain
9	chr8:1318800-1320400	Enhancers	Brain Hippocampus Middle	brain
10	chr8:1319000-1320600	Weak transcription	Rectal Smooth Muscle	rectum
11	chr8:1319600-1320600	Weak transcription	Fetal Brain Female	brain
12	chr8:1319800-1321000	Enhancers	Brain Substantia Nigra	brain
13	chr8:1319800-1321000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
14	chr8:1319800-1321200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
15	chr8:1320000-1320600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr8:1320000-1321000	Enhancers	Brain Anterior Caudate	brain
17	chr8:1320000-1321000	Bivalent Enhancer	Fetal Muscle Leg	muscle
18	chr8:1320200-1320600	Enhancers	Stomach Smooth Muscle	stomach
19	chr8:1320200-1321000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
20	chr8:1320200-1322000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
21	chr8:1320200-1323000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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