Variant report

Variant	rs546122259
Chromosome Location	chr8:10587009-10587010
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:12)
CpG islands
(count:122)
Chromatin interactive
region (count:0)
LncRNA
region (count:2)
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	POLR2A	chr8:10586858-10588246	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr8:10586880-10587877	H1-neurons	neurons:	n/a	n/a
3	SMARCB1	chr8:10586691-10588210	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr8:10586818-10587943	H1-neurons	neurons:	n/a	n/a
5	SUZ12	chr8:10586699-10587452	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr8:10586467-10588463	Hela-S3	cervix:	n/a	n/a
7	POLR2A	chr8:10585330-10588586	HUVEC	blood vessel:	n/a	n/a
8	POLR2A	chr8:10586888-10588521	MCF10A-Er-Src	breast:	n/a	n/a
9	SUZ12	chr8:10586843-10591366	NT2-D1	testis:	n/a	n/a
10	MXI1	chr8:10586920-10588631	SK-N-SH	brain:	n/a	n/a
11	SMC3	chr8:10586958-10588237	Hela-S3	cervix:	n/a	chr8:10587425-10587435
12	POLR2A	chr8:10586823-10588584	HUVEC	blood vessel:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:10586959-10587009	PFSK-1	brain:	n/a
2	chr8:10586959-10587009	HCT-116	colon:	n/a
3	chr8:10586959-10587009	AG10803	skin:	n/a
4	chr8:10586967-10587017	AG04450	lung:	fetal
5	chr8:10586967-10587017	NT2-D1	testis:	n/a
6	chr8:10586959-10587009	SK-N-SH_RA	brain:	n/a
7	chr8:10586967-10587017	PANC-1	pancreas:	n/a
8	chr8:10586959-10587009	Jurkat	blood:	n/a
9	chr8:10586959-10587009	HIPEpiC	eye:	n/a
10	chr8:10586967-10587017	H1-hESC	embryonic stem cell:	embryo
11	chr8:10586967-10587017	HCT-116	colon:	n/a
12	chr8:10586967-10587017	HRPEpiC	eye:	n/a
13	chr8:10586967-10587017	NHBE	bronchial:	n/a
14	chr8:10586959-10587009	K562	blood:	n/a
15	chr8:10586967-10587017	NB4	blood:	n/a
16	chr8:10586967-10587017	HRE	kidney:	n/a
17	chr8:10586967-10587017	NHDF-neo	bronchial:	n/a
18	chr8:10586959-10587009	HUVEC	blood vessel:	n/a
19	chr8:10586967-10587017	LNCaP	prostate:	n/a
20	chr8:10586959-10587009	HCPEpiC	choroid plexus:	n/a
21	chr8:10586959-10587009	NT2-D1	testis:	n/a
22	chr8:10586959-10587009	AG09319	gingival:	n/a
23	chr8:10586967-10587017	HEEpiC	esophagus:	n/a
24	chr8:10586967-10587017	HCPEpiC	choroid plexus:	n/a
25	chr8:10586967-10587017	HEK293	kidney:	embryo
26	chr8:10586967-10587017	U87	brain:	n/a
27	chr8:10586959-10587009	GM12892	blood:	n/a
28	chr8:10586967-10587017	NH-A	brain:	n/a
29	chr8:10586959-10587009	IMR90	lung:	fetal
30	chr8:10586967-10587017	HRCEpiC	kidney:	n/a
31	chr8:10586959-10587009	NH-A	brain:	n/a
32	chr8:10586959-10587009	U87	brain:	n/a
33	chr8:10586959-10587009	SKMC	muscle:	n/a
34	chr8:10586967-10587017	PFSK-1	brain:	n/a
35	chr8:10586967-10587017	GM19239	blood:	n/a
36	chr8:10586959-10587009	HL-60	blood:	n/a
37	chr8:10586959-10587009	AG04450	lung:	fetal
38	chr8:10586959-10587009	SK-N-MC	brain:	n/a
39	chr8:10586967-10587017	SAEC	small airway:	n/a
40	chr8:10586967-10587017	T-47D	breast:	n/a
41	chr8:10586959-10587009	LNCaP	prostate:	n/a
42	chr8:10586967-10587017	ovcar-3	ovarian:	n/a
43	chr8:10586959-10587009	T-47D	breast:	n/a
44	chr8:10586959-10587009	ProgFib	skin:	n/a
45	chr8:10586959-10587009	HRPEpiC	eye:	n/a
46	chr8:10586967-10587017	K562	blood:	n/a
47	chr8:10586967-10587017	GM12878	blood:	n/a
48	chr8:10586959-10587009	Hepatocyte	liver:	n/a
49	chr8:10586967-10587017	BE2_C	brain:	n/a
50	chr8:10586959-10587009	HEEpiC	esophagus:	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C8orf74-1	chr8:10586824-10587140	NONHSAT125014
2	lnc-C8orf74-1	chr8:10586824-10587140	ENSG00000248896

No data

Variant related genes	Relation type
ENSG00000248896	TF binding region
ENSG00000248896	CpG island

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022994	chr8:10190618-10660122	Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv539466	chr8:10190618-10660122	Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv917085	chr8:10237508-10828204	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv1015932	chr8:10357101-10597856	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv1021048	chr8:10504395-10591896	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
6	nsv527184	chr8:10530037-10589913	Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	nsv1034829	chr8:10537081-10591896	Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
8	nsv1022582	chr8:10571218-10636162	Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
9	nsv539468	chr8:10571218-10636162	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
10	nsv1026802	chr8:10576444-10754489	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
11	nsv539469	chr8:10576444-10754489	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
12	esv3339284	chr8:10586967-10589515	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10576800-10587200	Weak transcription	Gastric	stomach
2	chr8:10580200-10587200	Weak transcription	Pancreas	Pancrea
3	chr8:10584400-10588000	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
4	chr8:10585200-10588400	Bivalent/Poised TSS	Left Ventricle	heart
5	chr8:10585400-10587200	Active TSS	Right Ventricle	heart
6	chr8:10586000-10587200	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr8:10586000-10588600	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
8	chr8:10586000-10588800	Active TSS	Right Atrium	heart
9	chr8:10586200-10587200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr8:10586200-10587200	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
11	chr8:10586200-10588800	Active TSS	Hela-S3	cervix
12	chr8:10586400-10587200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr8:10586400-10588000	Bivalent/Poised TSS	Fetal Intestine Large	intestine
14	chr8:10586400-10588000	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
15	chr8:10586400-10588400	Active TSS	HUVEC	blood vessel
16	chr8:10586400-10588400	Active TSS	NHEK	skin
17	chr8:10586600-10587200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
18	chr8:10586600-10587200	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
19	chr8:10586600-10587400	Flanking Active TSS	Liver	Liver
20	chr8:10586600-10587600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
21	chr8:10586600-10588400	Active TSS	Pancreatic Islets	Pancreatic Islet
22	chr8:10586600-10592600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
23	chr8:10586800-10587200	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr8:10586800-10587200	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
25	chr8:10586800-10587200	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
26	chr8:10586800-10587200	Bivalent/Poised TSS	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr8:10586800-10587200	Bivalent/Poised TSS	Adipose Nuclei	Adipose
28	chr8:10586800-10587200	Bivalent/Poised TSS	Brain Angular Gyrus	brain
29	chr8:10586800-10587200	Bivalent Enhancer	Fetal Thymus	thymus
30	chr8:10586800-10587400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr8:10586800-10587400	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
32	chr8:10586800-10587400	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
33	chr8:10586800-10587400	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
34	chr8:10586800-10587400	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
35	chr8:10586800-10587400	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
36	chr8:10586800-10587600	Flanking Bivalent TSS/Enh	Primary B cells from cord blood	blood
37	chr8:10586800-10587800	Active TSS	Esophagus	oesophagus
38	chr8:10586800-10587800	Bivalent/Poised TSS	Small Intestine	intestine
39	chr8:10586800-10588000	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr8:10586800-10588000	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
41	chr8:10586800-10588400	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
42	chr8:10586800-10588600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr8:10586800-10588800	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
44	chr8:10587000-10587200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
45	chr8:10587000-10587200	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr8:10587000-10587200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
47	chr8:10587000-10587200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
48	chr8:10587000-10587200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
49	chr8:10587000-10587200	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
50	chr8:10587000-10587200	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood

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