Variant report

Variant	rs372329435
Chromosome Location	chr8:122654452-122654453
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	CTCF	chr8:122654396-122654978	MCF-7	breast:	n/a	chr8:122654685-122654706 chr8:122654684-122654700 chr8:122654683-122654701
4	STAT3	chr8:122654418-122654711	MCF10A-Er-Src	breast:	n/a	n/a
5	CHD1	chr8:122654075-122654969	H1-hESC	embryonic stem cell:	n/a	chr8:122654612-122654622
6	CTCF	chr8:122654447-122654977	GM12878	blood:	n/a	chr8:122654685-122654706 chr8:122654684-122654700 chr8:122654683-122654701
7	RAD21	chr8:122654334-122655068	A549	lung:	n/a	chr8:122654684-122654703
8	RAD21	chr8:122654376-122655331	H1-hESC	embryonic stem cell:	n/a	chr8:122654684-122654703
9	CEBPB	chr8:122654422-122654834	A549	lung:	n/a	n/a
10	RAD21	chr8:122654416-122654992	SK-N-SH_RA	brain:	n/a	chr8:122654684-122654703
11	MYC	chr8:122653977-122654760	H1-hESC	embryonic stem cell:	n/a	n/a
12	CTCF	chr8:122654346-122655087	HCT-116	colon:	n/a	chr8:122654685-122654706 chr8:122654684-122654700 chr8:122654683-122654701
13	CTCF	chr8:122654412-122654942	A549	lung:	n/a	chr8:122654685-122654706 chr8:122654684-122654700 chr8:122654683-122654701
14	GATA3	chr8:122653406-122655060	SK-N-SH	brain:	n/a	chr8:122654472-122654482
15	CTCF	chr8:122654275-122654980	MCF-7	breast:	n/a	chr8:122654685-122654706 chr8:122654684-122654700 chr8:122654683-122654701
16	TCF12	chr8:122654392-122654848	A549	lung:	n/a	n/a
17	MYC	chr8:122653963-122654838	MCF10A-Er-Src	breast:	n/a	n/a
18	JUND	chr8:122653892-122654859	H1-hESC	embryonic stem cell:	n/a	n/a
19	POLR2A	chr8:122649915-122654889	IMR90	lung:	n/a	n/a
20	MAX	chr8:122653590-122654887	SK-N-SH	brain:	n/a	n/a
21	SIN3AK20	chr8:122654418-122654802	SK-N-SH	brain:	n/a	n/a
22	EP300	chr8:122653480-122655028	A549	lung:	n/a	chr8:122654704-122654718 chr8:122654796-122654810 chr8:122654790-122654804 chr8:122654046-122654059
23	MAX	chr8:122653843-122654970	H1-hESC	embryonic stem cell:	n/a	n/a
24	RAD21	chr8:122654305-122655094	MCF-7	breast:	n/a	chr8:122654684-122654703
25	TCF12	chr8:122653379-122655061	A549	lung:	n/a	n/a
26	MAX	chr8:122653851-122654806	SK-N-SH	brain:	n/a	n/a
27	RAD21	chr8:122654434-122654925	ECC-1	luminal epithelium:	n/a	chr8:122654684-122654703
28	ZNF217	chr8:122654420-122654753	MCF-7	breast:	n/a	n/a
29	MAX	chr8:122653903-122654974	A549	lung:	n/a	n/a
30	E2F6	chr8:122653504-122654835	A549	lung:	n/a	chr8:122654257-122654269 chr8:122654284-122654293 chr8:122654286-122654295
31	EP300	chr8:122654419-122654836	SK-N-SH_RA	brain:	n/a	chr8:122654704-122654718 chr8:122654796-122654810 chr8:122654790-122654804
32	SP1	chr8:122653423-122654978	A549	lung:	n/a	chr8:122654611-122654625
33	HA-E2F1	chr8:122653835-122654696	MCF-7	breast:	n/a	chr8:122654257-122654269 chr8:122654284-122654293 chr8:122654286-122654295
34	SMC3	chr8:122653423-122655523	SK-N-SH	brain:	n/a	chr8:122654685-122654699
35	USF1	chr8:122654392-122654915	A549	lung:	n/a	n/a
36	BCL3	chr8:122653973-122654925	A549	lung:	n/a	chr8:122653978-122653987
37	RAD21	chr8:122654358-122655083	MCF-7	breast:	n/a	chr8:122654684-122654703
38	SIN3AK20	chr8:122654181-122654824	A549	lung:	n/a	n/a
39	E2F6	chr8:122653416-122654767	H1-hESC	embryonic stem cell:	n/a	chr8:122654257-122654269 chr8:122654284-122654293 chr8:122654286-122654295
40	TAF1	chr8:122654424-122654761	PFSK-1	brain:	n/a	n/a
41	FOXA2	chr8:122653887-122654777	A549	lung:	n/a	n/a
42	RAD21	chr8:122654400-122654996	Hela-S3	cervix:	n/a	chr8:122654684-122654703
43	ATF2	chr8:122654411-122654789	H1-hESC	embryonic stem cell:	n/a	n/a
44	YY1	chr8:122654414-122654820	H1-hESC	embryonic stem cell:	n/a	chr8:122654464-122654472
45	NFIC	chr8:122654440-122654824	ECC-1	luminal epithelium:	n/a	n/a
46	TCF12	chr8:122653941-122654941	ECC-1	luminal epithelium:	n/a	n/a
47	YY1	chr8:122654400-122654783	SK-N-SH_RA	brain:	n/a	chr8:122654464-122654472
48	E2F4	chr8:122653853-122654825	MCF10A-Er-Src	breast:	n/a	chr8:122654257-122654269 chr8:122654284-122654293 chr8:122654286-122654295
49	CTCF	chr8:122653762-122655084	SK-N-SH	brain:	n/a	chr8:122654685-122654706 chr8:122654684-122654700 chr8:122654683-122654701
50	FOSL2	chr8:122653879-122654974	A549	lung:	n/a	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
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:112 , 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	chr8:122650800-122654800	Active TSS	NHDF-Ad	bronchial
8	chr8:122650800-122655000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr8:122651000-122654800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr8:122651000-122654800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr8:122651000-122654800	Active TSS	Muscle Satellite Cultured Cells	--
12	chr8:122651200-122654800	Active TSS	iPS-18 Cell Line	embryonic stem cell
13	chr8:122651200-122654800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr8:122651200-122654800	Active TSS	A549	lung
15	chr8:122651200-122655400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr8:122651400-122654800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
17	chr8:122651400-122655000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr8:122651400-122655000	Active TSS	HSMM	muscle
19	chr8:122651400-122655200	Active TSS	H9 Cell Line	embryonic stem cell
20	chr8:122651600-122655000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
21	chr8:122652000-122655000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr8:122652000-122655000	Active TSS	Aorta	Aorta
23	chr8:122652000-122655000	Active TSS	Rectal Mucosa Donor 29	rectum
24	chr8:122652200-122654800	Active TSS	Brain Anterior Caudate	brain
25	chr8:122652200-122655200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr8:122652200-122655400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr8:122652400-122654600	Active TSS	Colonic Mucosa	Colon
28	chr8:122652400-122654800	Active TSS	ES-I3 Cell Line	embryonic stem cell
29	chr8:122652600-122655000	Active TSS	Right Ventricle	heart
30	chr8:122652800-122654600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr8:122653000-122654600	Bivalent/Poised TSS	Thymus	Thymus
32	chr8:122653000-122654800	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
33	chr8:122653000-122654800	Active TSS	HSMMtube	muscle
34	chr8:122653000-122655000	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
35	chr8:122653000-122655000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr8:122653200-122654800	Active TSS	HUES48 Cell Line	embryonic stem cell
37	chr8:122653200-122654800	Active TSS	iPS-15b Cell Line	embryonic stem cell
38	chr8:122653200-122655200	Active TSS	HUES6 Cell Line	embryonic stem cell
39	chr8:122653200-122655200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr8:122653400-122654600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr8:122653400-122654800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr8:122653600-122654600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
43	chr8:122653600-122654600	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
44	chr8:122653600-122654600	Flanking Active TSS	Brain Hippocampus Middle	brain
45	chr8:122653600-122654600	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
46	chr8:122653600-122654600	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
47	chr8:122653600-122654800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr8:122653600-122654800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
49	chr8:122653800-122654600	Active TSS	Esophagus	oesophagus
50	chr8:122653800-122654600	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain

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