Variant report

Variant	rs527295522
Chromosome Location	chr8:122653678-122653679
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:46)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:46 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EP300	chr8:122653445-122654339	SK-N-SH_RA	brain:	n/a	chr8:122654046-122654059
2	RAD21	chr8:122653430-122654217	H1-hESC	embryonic stem cell:	n/a	n/a
3	TCF12	chr8:122653423-122655017	SK-N-SH	brain:	n/a	n/a
4	E2F6	chr8:122653566-122654370	H1-hESC	embryonic stem cell:	n/a	chr8:122654257-122654269 chr8:122654284-122654293 chr8:122654286-122654295
5	GATA3	chr8:122653406-122655060	SK-N-SH	brain:	n/a	chr8:122654472-122654482
6	POLR2A	chr8:122649915-122654889	IMR90	lung:	n/a	n/a
7	MAX	chr8:122653590-122654887	SK-N-SH	brain:	n/a	n/a
8	POLR2A	chr8:122653393-122653845	PANC-1	pancreas:	n/a	n/a
9	EP300	chr8:122653480-122655028	A549	lung:	n/a	chr8:122654704-122654718 chr8:122654796-122654810 chr8:122654790-122654804 chr8:122654046-122654059
10	TCF12	chr8:122653379-122655061	A549	lung:	n/a	n/a
11	E2F6	chr8:122653504-122654835	A549	lung:	n/a	chr8:122654257-122654269 chr8:122654284-122654293 chr8:122654286-122654295
12	SP1	chr8:122653423-122654978	A549	lung:	n/a	chr8:122654611-122654625
13	SMC3	chr8:122653423-122655523	SK-N-SH	brain:	n/a	chr8:122654685-122654699
14	POLR2A	chr8:122653486-122654332	PANC-1	pancreas:	n/a	n/a
15	TAF1	chr8:122653417-122653778	SK-N-SH	brain:	n/a	n/a
16	E2F6	chr8:122653416-122654767	H1-hESC	embryonic stem cell:	n/a	chr8:122654257-122654269 chr8:122654284-122654293 chr8:122654286-122654295
17	POLR2A	chr8:122653440-122654004	SK-N-SH	brain:	n/a	n/a
18	TBP	chr8:122653533-122653715	H1-hESC	embryonic stem cell:	n/a	n/a
19	RAD21	chr8:122653423-122653911	SK-N-SH_RA	brain:	n/a	n/a
20	CTCF	chr8:122653347-122655091	A549	lung:	n/a	chr8:122654685-122654706 chr8:122654684-122654700 chr8:122654683-122654701
21	CTBP2	chr8:122653579-122654423	H1-hESC	embryonic stem cell:	n/a	n/a
22	MAX	chr8:122653435-122654917	A549	lung:	n/a	n/a
23	MAX	chr8:122653421-122655000	A549	lung:	n/a	n/a
24	POLR2A	chr8:122653394-122654291	U87	brain:	n/a	n/a
25	MAX	chr8:122653541-122654840	H1-hESC	embryonic stem cell:	n/a	n/a
26	CREB1	chr8:122653519-122653807	A549	lung:	n/a	n/a
27	YY1	chr8:122653439-122653775	SK-N-SH_RA	brain:	n/a	n/a
28	POLR2A	chr8:122653446-122654737	MCF10A-Er-Src	breast:	n/a	n/a
29	JUN	chr8:122653565-122653691	H1-hESC	embryonic stem cell:	n/a	n/a
30	RAD21	chr8:122653415-122654195	SK-N-SH_RA	brain:	n/a	n/a
31	POLR2A	chr8:122645249-122654754	ProgFib	skin:	n/a	n/a
32	TAF1	chr8:122653454-122653799	SK-N-SH	brain:	n/a	n/a
33	E2F6	chr8:122653567-122654495	A549	lung:	n/a	chr8:122654257-122654269 chr8:122654284-122654293 chr8:122654286-122654295
34	RAD21	chr8:122653308-122655594	SK-N-SH	brain:	n/a	chr8:122654684-122654703
35	MAX	chr8:122653486-122654843	ECC-1	luminal epithelium:	n/a	n/a
36	POLR2A	chr8:122653388-122654795	U87	brain:	n/a	n/a
37	SIN3A	chr8:122653546-122654864	H1-hESC	embryonic stem cell:	n/a	n/a
38	SP1	chr8:122653441-122654978	A549	lung:	n/a	chr8:122654611-122654625
39	POLR2A	chr8:122653436-122654870	MCF10A-Er-Src	breast:	n/a	n/a
40	TCF12	chr8:122653417-122655008	SK-N-SH	brain:	n/a	n/a
41	EP300	chr8:122653457-122654098	SK-N-SH_RA	brain:	n/a	chr8:122654046-122654059
42	POLR2A	chr8:122653412-122654221	SK-N-SH	brain:	n/a	n/a
43	CHD1	chr8:122649945-122655092	IMR90	lung:	n/a	chr8:122654612-122654622 chr8:122651511-122651521
44	RAD21	chr8:122651182-122655235	IMR90	lung:	n/a	chr8:122654684-122654703
45	NFIC	chr8:122653335-122654980	SK-N-SH	brain:	n/a	n/a
46	ZBTB7A	chr8:122653465-122654379	ECC-1	luminal epithelium:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:122653639-122653689	HRCEpiC	kidney:	n/a
2	chr8:122653639-122653689	GM19239	blood:	n/a
3	chr8:122653639-122653689	Hepatocyte	liver:	n/a
4	chr8:122653639-122653689	BJ	skin:	n/a
5	chr8:122653639-122653689	HRPEpiC	eye:	n/a
6	chr8:122653639-122653689	HCM	heart:	n/a
7	chr8:122653639-122653689	MCF-7	breast:	n/a
8	chr8:122653639-122653689	PrEC	prostate:	n/a
9	chr8:122653639-122653689	SK-N-SH_RA	brain:	n/a
10	chr8:122653639-122653689	SKMC	muscle:	n/a
11	chr8:122653639-122653689	Caco-2	colon:	n/a
12	chr8:122653639-122653689	GM06990	blood:	n/a
13	chr8:122653639-122653689	H1-hESC	embryonic stem cell:	embryo
14	chr8:122653639-122653689	AG09319	gingival:	n/a
15	chr8:122653639-122653689	Jurkat	blood:	n/a
16	chr8:122653639-122653689	LNCaP	prostate:	n/a
17	chr8:122653639-122653689	GM12891	blood:	n/a
18	chr8:122653639-122653689	MCF10A-Er-Src	breast:	n/a
19	chr8:122653639-122653689	NB4	blood:	n/a
20	chr8:122653639-122653689	NH-A	brain:	n/a
21	chr8:122653639-122653689	BE2_C	brain:	n/a
22	chr8:122653639-122653689	NT2-D1	testis:	n/a
23	chr8:122653639-122653689	SK-N-SH	brain:	n/a
24	chr8:122653639-122653689	GM12892	blood:	n/a
25	chr8:122653639-122653689	AG04450	lung:	fetal
26	chr8:122653639-122653689	AoSMC	blood vessel:	n/a
27	chr8:122653639-122653689	HRE	kidney:	n/a
28	chr8:122653639-122653689	RPTEC	kidney:	n/a
29	chr8:122653639-122653689	AG09309	skin:	n/a
30	chr8:122653639-122653689	HIPEpiC	eye:	n/a
31	chr8:122653639-122653689	PANC-1	pancreas:	n/a
32	chr8:122653639-122653689	HEK293	kidney:	embryo
33	chr8:122653639-122653689	HNPCEpiC	eye:	n/a
34	chr8:122653639-122653689	K562	blood:	n/a
35	chr8:122653639-122653689	HL-60	blood:	n/a
36	chr8:122653639-122653689	HCF	heart:	n/a
37	chr8:122653639-122653689	HPAEpiC	pulmonary alveolar:	n/a
38	chr8:122653639-122653689	HEEpiC	esophagus:	n/a
39	chr8:122653639-122653689	SAEC	small airway:	n/a
40	chr8:122653639-122653689	HCPEpiC	choroid plexus:	n/a
41	chr8:122653639-122653689	HMEC	breast:	n/a
42	chr8:122653639-122653689	SK-N-MC	brain:	n/a
43	chr8:122653639-122653689	ECC-1	luminal epithelium:	n/a
44	chr8:122653639-122653689	U87	brain:	n/a
45	chr8:122653639-122653689	AG10803	skin:	n/a
46	chr8:122653639-122653689	NHBE	bronchial:	n/a
47	chr8:122653639-122653689	ProgFib	skin:	n/a
48	chr8:122653639-122653689	A549	lung:	n/a
49	chr8:122653639-122653689	Hela-S3	cervix:	n/a
50	chr8:122653639-122653689	HCT-116	colon:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:122649542..122651983-chr8:122652240..122655106,2	MCF-7	breast:

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RP11-785H20.1.1-2	chr8:122653676-122653694	ENSG00000248690
2	lnc-RP11-785H20.1.1-2	chr8:122653430-122653686	ENSG00000248690
3	lnc-RP11-785H20.1.1-2	chr8:122653430-122653686	NONHSAT128466
4	lnc-RP11-785H20.1.1-2	chr8:122653486-122653686	NONHSAT128468
5	lnc-RP11-785H20.1.1-2	chr8:122653430-122653686	ENSG00000248690

No data

Variant related genes	Relation type
HAS2	TF binding region
HAS2	CpG island
ENSG00000248690	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033501	chr8:122436332-122758651	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv831446	chr8:122535039-122711959	Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	esv1848372	chr8:122653247-122716049	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:122648800-122655000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr8:122649200-122654800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr8:122649800-122654000	Active TSS	NH-A	brain
4	chr8:122649800-122655200	Active TSS	HUES64 Cell Line	embryonic stem cell
5	chr8:122650000-122655200	Active TSS	Fetal Kidney	kidney
6	chr8:122650000-122655200	Active TSS	Right Atrium	heart
7	chr8:122650400-122655000	Active TSS	NHLF	lung
8	chr8:122650800-122654400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr8:122650800-122654800	Active TSS	NHDF-Ad	bronchial
10	chr8:122650800-122655000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr8:122651000-122654200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
12	chr8:122651000-122654800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr8:122651000-122654800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr8:122651000-122654800	Active TSS	Muscle Satellite Cultured Cells	--
15	chr8:122651200-122654200	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
16	chr8:122651200-122654400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr8:122651200-122654800	Active TSS	iPS-18 Cell Line	embryonic stem cell
18	chr8:122651200-122654800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr8:122651200-122654800	Active TSS	A549	lung
20	chr8:122651200-122655400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr8:122651400-122654000	Active TSS	Brain Substantia Nigra	brain
22	chr8:122651400-122654000	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
23	chr8:122651400-122654400	Bivalent Enhancer	Fetal Heart	heart
24	chr8:122651400-122654800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
25	chr8:122651400-122655000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr8:122651400-122655000	Active TSS	HSMM	muscle
27	chr8:122651400-122655200	Active TSS	H9 Cell Line	embryonic stem cell
28	chr8:122651600-122654200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr8:122651600-122655000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
30	chr8:122651800-122654000	Active TSS	Breast Myoepithelial Primary Cells	Breast
31	chr8:122651800-122654200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr8:122652000-122654000	Bivalent/Poised TSS	Fetal Muscle Leg	muscle
33	chr8:122652000-122654000	Bivalent/Poised TSS	Left Ventricle	heart
34	chr8:122652000-122654000	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
35	chr8:122652000-122654400	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
36	chr8:122652000-122655000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr8:122652000-122655000	Active TSS	Aorta	Aorta
38	chr8:122652000-122655000	Active TSS	Rectal Mucosa Donor 29	rectum
39	chr8:122652200-122654000	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
40	chr8:122652200-122654000	Bivalent/Poised TSS	Fetal Lung	lung
41	chr8:122652200-122654000	Active TSS	Rectal Mucosa Donor 31	rectum
42	chr8:122652200-122654800	Active TSS	Brain Anterior Caudate	brain
43	chr8:122652200-122655200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr8:122652200-122655400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr8:122652400-122654400	Active TSS	Hela-S3	cervix
46	chr8:122652400-122654600	Active TSS	Colonic Mucosa	Colon
47	chr8:122652400-122654800	Active TSS	ES-I3 Cell Line	embryonic stem cell
48	chr8:122652600-122654400	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
49	chr8:122652600-122655000	Active TSS	Right Ventricle	heart
50	chr8:122652800-122653800	Weak transcription	Lung	lung

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