Variant report

Variant	rs141939417
Chromosome Location	chr8:122654180-122654181
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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	MXI1	chr8:122653993-122654193	H1-hESC	embryonic stem cell:	n/a	n/a
3	RAD21	chr8:122653430-122654217	H1-hESC	embryonic stem cell:	n/a	n/a
4	TCF12	chr8:122653423-122655017	SK-N-SH	brain:	n/a	n/a
5	CHD2	chr8:122653889-122655025	H1-hESC	embryonic stem cell:	n/a	chr8:122654612-122654622
6	CTCF	chr8:122654040-122654190	HRPEpiC	eye:	n/a	n/a
7	CHD1	chr8:122654075-122654969	H1-hESC	embryonic stem cell:	n/a	chr8:122654612-122654622
8	E2F6	chr8:122653566-122654370	H1-hESC	embryonic stem cell:	n/a	chr8:122654257-122654269 chr8:122654284-122654293 chr8:122654286-122654295
9	MYC	chr8:122653977-122654760	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr8:122653958-122654188	H1-hESC	embryonic stem cell:	n/a	n/a
11	RAD21	chr8:122653848-122654301	ECC-1	luminal epithelium:	n/a	n/a
12	CTCF	chr8:122654180-122654330	HEEpiC	esophagus:	n/a	n/a
13	GATA3	chr8:122653406-122655060	SK-N-SH	brain:	n/a	chr8:122654472-122654482
14	MYC	chr8:122653963-122654838	MCF10A-Er-Src	breast:	n/a	n/a
15	JUND	chr8:122653892-122654859	H1-hESC	embryonic stem cell:	n/a	n/a
16	SIN3AK20	chr8:122653757-122654371	SK-N-SH	brain:	n/a	n/a
17	POLR2A	chr8:122649915-122654889	IMR90	lung:	n/a	n/a
18	MAX	chr8:122653590-122654887	SK-N-SH	brain:	n/a	n/a
19	MAX	chr8:122653847-122654373	H1-hESC	embryonic stem cell:	n/a	n/a
20	EP300	chr8:122653480-122655028	A549	lung:	n/a	chr8:122654704-122654718 chr8:122654796-122654810 chr8:122654790-122654804 chr8:122654046-122654059
21	MAX	chr8:122653843-122654970	H1-hESC	embryonic stem cell:	n/a	n/a
22	TCF12	chr8:122653379-122655061	A549	lung:	n/a	n/a
23	MAX	chr8:122653851-122654806	SK-N-SH	brain:	n/a	n/a
24	MAX	chr8:122653903-122654974	A549	lung:	n/a	n/a
25	SIN3AK20	chr8:122654074-122654392	A549	lung:	n/a	n/a
26	E2F6	chr8:122653504-122654835	A549	lung:	n/a	chr8:122654257-122654269 chr8:122654284-122654293 chr8:122654286-122654295
27	EP300	chr8:122653731-122654340	ECC-1	luminal epithelium:	n/a	chr8:122654046-122654059
28	SP1	chr8:122653423-122654978	A549	lung:	n/a	chr8:122654611-122654625
29	HA-E2F1	chr8:122653835-122654696	MCF-7	breast:	n/a	chr8:122654257-122654269 chr8:122654284-122654293 chr8:122654286-122654295
30	SMC3	chr8:122653423-122655523	SK-N-SH	brain:	n/a	chr8:122654685-122654699
31	BCL3	chr8:122653973-122654925	A549	lung:	n/a	chr8:122653978-122653987
32	POLR2A	chr8:122653486-122654332	PANC-1	pancreas:	n/a	n/a
33	E2F6	chr8:122653416-122654767	H1-hESC	embryonic stem cell:	n/a	chr8:122654257-122654269 chr8:122654284-122654293 chr8:122654286-122654295
34	NR3C1	chr8:122653883-122654375	A549	lung:	n/a	n/a
35	FOXA2	chr8:122653887-122654777	A549	lung:	n/a	n/a
36	CTCF	chr8:122654140-122654290	HUVEC	blood vessel:	n/a	n/a
37	TCF12	chr8:122653941-122654941	ECC-1	luminal epithelium:	n/a	n/a
38	E2F4	chr8:122653853-122654825	MCF10A-Er-Src	breast:	n/a	chr8:122654257-122654269 chr8:122654284-122654293 chr8:122654286-122654295
39	TCF12	chr8:122653737-122654360	ECC-1	luminal epithelium:	n/a	n/a
40	POLR2A	chr8:122654055-122654210	A549	lung:	n/a	n/a
41	CTCF	chr8:122654100-122654250	HPAF	blood vessel:	n/a	n/a
42	CTCF	chr8:122653762-122655084	SK-N-SH	brain:	n/a	chr8:122654685-122654706 chr8:122654684-122654700 chr8:122654683-122654701
43	FOSL2	chr8:122653879-122654974	A549	lung:	n/a	n/a
44	POLR2A	chr8:122653971-122654299	Hela-S3	cervix:	n/a	n/a
45	CTCF	chr8:122653347-122655091	A549	lung:	n/a	chr8:122654685-122654706 chr8:122654684-122654700 chr8:122654683-122654701
46	CTBP2	chr8:122653579-122654423	H1-hESC	embryonic stem cell:	n/a	n/a
47	GTF2F1	chr8:122653982-122654230	H1-hESC	embryonic stem cell:	n/a	n/a
48	KAP1	chr8:122653951-122654826	U2OS	brain:	n/a	n/a
49	MAX	chr8:122653435-122654917	A549	lung:	n/a	n/a
50	MAX	chr8:122653421-122655000	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:122649542..122651983-chr8:122652240..122655106,2	MCF-7	breast:
2	chr8:122653903..122655313-chr8:122841957..122843772,13	MCF-7	breast:

Variant related genes	Relation type
HAS2	TF binding region
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:115 , 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	chr8:122649800-122655200	Active TSS	HUES64 Cell Line	embryonic stem cell
4	chr8:122650000-122655200	Active TSS	Fetal Kidney	kidney
5	chr8:122650000-122655200	Active TSS	Right Atrium	heart
6	chr8:122650400-122655000	Active TSS	NHLF	lung
7	chr8:122650800-122654400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr8:122650800-122654800	Active TSS	NHDF-Ad	bronchial
9	chr8:122650800-122655000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr8:122651000-122654200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
11	chr8:122651000-122654800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr8:122651000-122654800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr8:122651000-122654800	Active TSS	Muscle Satellite Cultured Cells	--
14	chr8:122651200-122654200	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
15	chr8:122651200-122654400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr8:122651200-122654800	Active TSS	iPS-18 Cell Line	embryonic stem cell
17	chr8:122651200-122654800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr8:122651200-122654800	Active TSS	A549	lung
19	chr8:122651200-122655400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr8:122651400-122654400	Bivalent Enhancer	Fetal Heart	heart
21	chr8:122651400-122654800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
22	chr8:122651400-122655000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr8:122651400-122655000	Active TSS	HSMM	muscle
24	chr8:122651400-122655200	Active TSS	H9 Cell Line	embryonic stem cell
25	chr8:122651600-122654200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr8:122651600-122655000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
27	chr8:122651800-122654200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr8:122652000-122654400	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
29	chr8:122652000-122655000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr8:122652000-122655000	Active TSS	Aorta	Aorta
31	chr8:122652000-122655000	Active TSS	Rectal Mucosa Donor 29	rectum
32	chr8:122652200-122654800	Active TSS	Brain Anterior Caudate	brain
33	chr8:122652200-122655200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr8:122652200-122655400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr8:122652400-122654400	Active TSS	Hela-S3	cervix
36	chr8:122652400-122654600	Active TSS	Colonic Mucosa	Colon
37	chr8:122652400-122654800	Active TSS	ES-I3 Cell Line	embryonic stem cell
38	chr8:122652600-122654400	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
39	chr8:122652600-122655000	Active TSS	Right Ventricle	heart
40	chr8:122652800-122654600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr8:122653000-122654600	Bivalent/Poised TSS	Thymus	Thymus
42	chr8:122653000-122654800	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
43	chr8:122653000-122654800	Active TSS	HSMMtube	muscle
44	chr8:122653000-122655000	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
45	chr8:122653000-122655000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr8:122653200-122654800	Active TSS	HUES48 Cell Line	embryonic stem cell
47	chr8:122653200-122654800	Active TSS	iPS-15b Cell Line	embryonic stem cell
48	chr8:122653200-122655200	Active TSS	HUES6 Cell Line	embryonic stem cell
49	chr8:122653200-122655200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr8:122653400-122654200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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