Variant report

Variant	rs199995005
Chromosome Location	chr8:122654341-122654342
allele	A/G
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	TCF12	chr8:122653423-122655017	SK-N-SH	brain:	n/a	n/a
2	CHD2	chr8:122653889-122655025	H1-hESC	embryonic stem cell:	n/a	chr8:122654612-122654622
3	CHD1	chr8:122654075-122654969	H1-hESC	embryonic stem cell:	n/a	chr8:122654612-122654622
4	RAD21	chr8:122654334-122655068	A549	lung:	n/a	chr8:122654684-122654703
5	E2F6	chr8:122653566-122654370	H1-hESC	embryonic stem cell:	n/a	chr8:122654257-122654269 chr8:122654284-122654293 chr8:122654286-122654295
6	MYC	chr8:122653977-122654760	H1-hESC	embryonic stem cell:	n/a	n/a
7	GATA3	chr8:122653406-122655060	SK-N-SH	brain:	n/a	chr8:122654472-122654482
8	CTCF	chr8:122654275-122654980	MCF-7	breast:	n/a	chr8:122654685-122654706 chr8:122654684-122654700 chr8:122654683-122654701
9	MYC	chr8:122653963-122654838	MCF10A-Er-Src	breast:	n/a	n/a
10	JUND	chr8:122653892-122654859	H1-hESC	embryonic stem cell:	n/a	n/a
11	SIN3AK20	chr8:122653757-122654371	SK-N-SH	brain:	n/a	n/a
12	POLR2A	chr8:122649915-122654889	IMR90	lung:	n/a	n/a
13	MAX	chr8:122653590-122654887	SK-N-SH	brain:	n/a	n/a
14	MAX	chr8:122653847-122654373	H1-hESC	embryonic stem cell:	n/a	n/a
15	EP300	chr8:122653480-122655028	A549	lung:	n/a	chr8:122654704-122654718 chr8:122654796-122654810 chr8:122654790-122654804 chr8:122654046-122654059
16	MAX	chr8:122653843-122654970	H1-hESC	embryonic stem cell:	n/a	n/a
17	RAD21	chr8:122654305-122655094	MCF-7	breast:	n/a	chr8:122654684-122654703
18	TCF12	chr8:122653379-122655061	A549	lung:	n/a	n/a
19	MAX	chr8:122653851-122654806	SK-N-SH	brain:	n/a	n/a
20	MAX	chr8:122653903-122654974	A549	lung:	n/a	n/a
21	SIN3AK20	chr8:122654074-122654392	A549	lung:	n/a	n/a
22	E2F6	chr8:122653504-122654835	A549	lung:	n/a	chr8:122654257-122654269 chr8:122654284-122654293 chr8:122654286-122654295
23	SP1	chr8:122653423-122654978	A549	lung:	n/a	chr8:122654611-122654625
24	HA-E2F1	chr8:122653835-122654696	MCF-7	breast:	n/a	chr8:122654257-122654269 chr8:122654284-122654293 chr8:122654286-122654295
25	SMC3	chr8:122653423-122655523	SK-N-SH	brain:	n/a	chr8:122654685-122654699
26	BCL3	chr8:122653973-122654925	A549	lung:	n/a	chr8:122653978-122653987
27	SIN3AK20	chr8:122654181-122654824	A549	lung:	n/a	n/a
28	E2F6	chr8:122653416-122654767	H1-hESC	embryonic stem cell:	n/a	chr8:122654257-122654269 chr8:122654284-122654293 chr8:122654286-122654295
29	NR3C1	chr8:122653883-122654375	A549	lung:	n/a	n/a
30	FOXA2	chr8:122653887-122654777	A549	lung:	n/a	n/a
31	TCF12	chr8:122653941-122654941	ECC-1	luminal epithelium:	n/a	n/a
32	E2F4	chr8:122653853-122654825	MCF10A-Er-Src	breast:	n/a	chr8:122654257-122654269 chr8:122654284-122654293 chr8:122654286-122654295
33	TCF12	chr8:122653737-122654360	ECC-1	luminal epithelium:	n/a	n/a
34	CTCF	chr8:122653762-122655084	SK-N-SH	brain:	n/a	chr8:122654685-122654706 chr8:122654684-122654700 chr8:122654683-122654701
35	FOSL2	chr8:122653879-122654974	A549	lung:	n/a	n/a
36	CTCF	chr8:122653347-122655091	A549	lung:	n/a	chr8:122654685-122654706 chr8:122654684-122654700 chr8:122654683-122654701
37	CTBP2	chr8:122653579-122654423	H1-hESC	embryonic stem cell:	n/a	n/a
38	KAP1	chr8:122653951-122654826	U2OS	brain:	n/a	n/a
39	MAX	chr8:122653435-122654917	A549	lung:	n/a	n/a
40	MAX	chr8:122653421-122655000	A549	lung:	n/a	n/a
41	MAX	chr8:122653541-122654840	H1-hESC	embryonic stem cell:	n/a	n/a
42	CREB1	chr8:122653922-122654357	A549	lung:	n/a	n/a
43	RAD21	chr8:122653865-122655098	HCT-116	colon:	n/a	chr8:122654684-122654703
44	REST	chr8:122653834-122654943	A549	lung:	n/a	n/a
45	POLR2A	chr8:122653446-122654737	MCF10A-Er-Src	breast:	n/a	n/a
46	TFAP2C	chr8:122653933-122654783	Hela-S3	cervix:	n/a	n/a
47	POLR2A	chr8:122645249-122654754	ProgFib	skin:	n/a	n/a
48	E2F6	chr8:122653567-122654495	A549	lung:	n/a	chr8:122654257-122654269 chr8:122654284-122654293 chr8:122654286-122654295
49	MYC	chr8:122654023-122654770	MCF10A-Er-Src	breast:	n/a	n/a
50	RAD21	chr8:122653308-122655594	SK-N-SH	brain:	n/a	chr8:122654684-122654703

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:122654328-122654378	K562	blood:	n/a
2	chr8:122654328-122654378	HRPEpiC	eye:	n/a
3	chr8:122654328-122654378	AoSMC	blood vessel:	n/a
4	chr8:122654328-122654378	ECC-1	luminal epithelium:	n/a
5	chr8:122654328-122654378	PANC-1	pancreas:	n/a
6	chr8:122654328-122654378	AG10803	skin:	n/a
7	chr8:122654328-122654378	NH-A	brain:	n/a
8	chr8:122654328-122654378	BE2_C	brain:	n/a
9	chr8:122654328-122654378	HRCEpiC	kidney:	n/a
10	chr8:122654328-122654378	GM06990	blood:	n/a
11	chr8:122654328-122654378	SK-N-SH	brain:	n/a
12	chr8:122654328-122654378	GM19239	blood:	n/a
13	chr8:122654328-122654378	HPAEpiC	pulmonary alveolar:	n/a
14	chr8:122654328-122654378	ProgFib	skin:	n/a
15	chr8:122654328-122654378	SK-N-SH_RA	brain:	n/a
16	chr8:122654328-122654378	HNPCEpiC	eye:	n/a
17	chr8:122654328-122654378	IMR90	lung:	fetal
18	chr8:122654328-122654378	LNCaP	prostate:	n/a
19	chr8:122654328-122654378	GM12891	blood:	n/a
20	chr8:122654328-122654378	Caco-2	colon:	n/a
21	chr8:122654328-122654378	HCM	heart:	n/a
22	chr8:122654328-122654378	HCF	heart:	n/a
23	chr8:122654328-122654378	BJ	skin:	n/a
24	chr8:122654328-122654378	HCPEpiC	choroid plexus:	n/a
25	chr8:122654328-122654378	ovcar-3	ovarian:	n/a
26	chr8:122654328-122654378	GM12878	blood:	n/a
27	chr8:122654328-122654378	RPTEC	kidney:	n/a
28	chr8:122654328-122654378	HIPEpiC	eye:	n/a
29	chr8:122654328-122654378	PrEC	prostate:	n/a
30	chr8:122654328-122654378	NHBE	bronchial:	n/a
31	chr8:122654328-122654378	AG04449	skin:	fetal
32	chr8:122654328-122654378	Hela-S3	cervix:	n/a
33	chr8:122654328-122654378	HepG2	liver:	n/a
34	chr8:122654328-122654378	PFSK-1	brain:	n/a
35	chr8:122654328-122654378	AG09319	gingival:	n/a
36	chr8:122654328-122654378	Jurkat	blood:	n/a
37	chr8:122654328-122654378	HRE	kidney:	n/a
38	chr8:122654328-122654378	NT2-D1	testis:	n/a
39	chr8:122654328-122654378	NHDF-neo	bronchial:	n/a
40	chr8:122654328-122654378	MCF10A-Er-Src	breast:	n/a
41	chr8:122654328-122654378	SK-N-MC	brain:	n/a
42	chr8:122654328-122654378	HMEC	breast:	n/a
43	chr8:122654328-122654378	MCF-7	breast:	n/a
44	chr8:122654328-122654378	HEEpiC	esophagus:	n/a
45	chr8:122654328-122654378	HEK293	kidney:	embryo
46	chr8:122654328-122654378	AG09309	skin:	n/a
47	chr8:122654328-122654378	A549	lung:	n/a
48	chr8:122654328-122654378	HAEpiC	amniotic membrane:	n/a
49	chr8:122654328-122654378	HL-60	blood:	n/a
50	chr8:122654328-122654378	SKMC	muscle:	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:122654279..122655172-chr8:122722565..122723772,6	MCF-7	breast:
2	chr8:122654203..122655215-chr8:122842205..122843217,4	MCF-7	breast:
3	chr8:122649542..122651983-chr8:122652240..122655106,2	MCF-7	breast:
4	chr8:122653903..122655313-chr8:122841957..122843772,13	MCF-7	breast:

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

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 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
4	nsv372268	chr8:122654341-122654341	Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 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	chr8:122651000-122654800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr8:122651000-122654800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr8:122651000-122654800	Active TSS	Muscle Satellite Cultured Cells	--
13	chr8:122651200-122654400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr8:122651200-122654800	Active TSS	iPS-18 Cell Line	embryonic stem cell
15	chr8:122651200-122654800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr8:122651200-122654800	Active TSS	A549	lung
17	chr8:122651200-122655400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr8:122651400-122654400	Bivalent Enhancer	Fetal Heart	heart
19	chr8:122651400-122654800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
20	chr8:122651400-122655000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr8:122651400-122655000	Active TSS	HSMM	muscle
22	chr8:122651400-122655200	Active TSS	H9 Cell Line	embryonic stem cell
23	chr8:122651600-122655000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
24	chr8:122652000-122654400	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
25	chr8:122652000-122655000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr8:122652000-122655000	Active TSS	Aorta	Aorta
27	chr8:122652000-122655000	Active TSS	Rectal Mucosa Donor 29	rectum
28	chr8:122652200-122654800	Active TSS	Brain Anterior Caudate	brain
29	chr8:122652200-122655200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr8:122652200-122655400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr8:122652400-122654400	Active TSS	Hela-S3	cervix
32	chr8:122652400-122654600	Active TSS	Colonic Mucosa	Colon
33	chr8:122652400-122654800	Active TSS	ES-I3 Cell Line	embryonic stem cell
34	chr8:122652600-122654400	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
35	chr8:122652600-122655000	Active TSS	Right Ventricle	heart
36	chr8:122652800-122654600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr8:122653000-122654600	Bivalent/Poised TSS	Thymus	Thymus
38	chr8:122653000-122654800	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
39	chr8:122653000-122654800	Active TSS	HSMMtube	muscle
40	chr8:122653000-122655000	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
41	chr8:122653000-122655000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr8:122653200-122654800	Active TSS	HUES48 Cell Line	embryonic stem cell
43	chr8:122653200-122654800	Active TSS	iPS-15b Cell Line	embryonic stem cell
44	chr8:122653200-122655200	Active TSS	HUES6 Cell Line	embryonic stem cell
45	chr8:122653200-122655200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr8:122653400-122654600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr8:122653400-122654800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr8:122653600-122654400	Bivalent Enhancer	Primary B cells from cord blood	blood
49	chr8:122653600-122654400	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
50	chr8:122653600-122654600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood

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