Variant report

Variant	rs553529296
Chromosome Location	chr9:17134351-17134352
allele	C/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	GATA1	chr9:17133794-17135869	PBDE	blood:	n/a	chr9:17134499-17134506 chr9:17134125-17134146 chr9:17134128-17134144 chr9:17134128-17134144
2	RCOR1	chr9:17134263-17136162	Hela-S3	cervix:	n/a	n/a
3	E2F6	chr9:17134197-17135850	A549	lung:	n/a	chr9:17134779-17134786 chr9:17134953-17134965 chr9:17134779-17134786 chr9:17134779-17134786 chr9:17134778-17134786 chr9:17134957-17134964 chr9:17135482-17135496 chr9:17134957-17134964 chr9:17135566-17135576 chr9:17134775-17134787 chr9:17134957-17134964 chr9:17134956-17134965 chr9:17134778-17134787 chr9:17135487-17135494
4	CTBP2	chr9:17134341-17135818	H1-hESC	embryonic stem cell:	n/a	n/a
5	MAX	chr9:17134346-17135672	ECC-1	luminal epithelium:	n/a	chr9:17135562-17135572
6	POLR2A	chr9:17134235-17136252	GM12891	blood:	n/a	n/a
7	TAF1	chr9:17134317-17135887	ECC-1	luminal epithelium:	n/a	n/a
8	MAX	chr9:17134310-17135877	ECC-1	luminal epithelium:	n/a	chr9:17135562-17135572
9	MAX	chr9:17134292-17135984	A549	lung:	n/a	chr9:17135562-17135572
10	POLR2A	chr9:17134180-17136005	SK-N-MC	brain:	n/a	n/a
11	NRF1	chr9:17134270-17135990	SK-N-SH	brain:	n/a	chr9:17134970-17134979 chr9:17134869-17134880
12	E2F6	chr9:17134216-17135947	H1-hESC	embryonic stem cell:	n/a	chr9:17134779-17134786 chr9:17134953-17134965 chr9:17134779-17134786 chr9:17134779-17134786 chr9:17134778-17134786 chr9:17134957-17134964 chr9:17135482-17135496 chr9:17134957-17134964 chr9:17135566-17135576 chr9:17134775-17134787 chr9:17134957-17134964 chr9:17134956-17134965 chr9:17134778-17134787 chr9:17135487-17135494
13	MXI1	chr9:17134028-17136249	SK-N-SH	brain:	n/a	n/a
14	NFIC	chr9:17134304-17135699	ECC-1	luminal epithelium:	n/a	n/a
15	KAP1	chr9:17134213-17135787	HEK293	kidney:	n/a	n/a
16	E2F4	chr9:17133813-17135343	MCF10A-Er-Src	breast:	n/a	chr9:17134779-17134786 chr9:17134953-17134965 chr9:17134779-17134786 chr9:17134779-17134786 chr9:17134778-17134786 chr9:17134957-17134964 chr9:17134957-17134964 chr9:17134775-17134787 chr9:17134957-17134964 chr9:17134956-17134965 chr9:17134778-17134787
17	REST	chr9:17134176-17135729	A549	lung:	n/a	chr9:17135565-17135575
18	POLR2A	chr9:17134234-17136032	H1-hESC	embryonic stem cell:	n/a	n/a
19	MAX	chr9:17134319-17135409	H1-hESC	embryonic stem cell:	n/a	n/a
20	MAX	chr9:17134194-17135720	H1-hESC	embryonic stem cell:	n/a	chr9:17135562-17135572
21	TCF12	chr9:17134316-17135527	A549	lung:	n/a	n/a
22	MAX	chr9:17134326-17136181	NB4	blood:	n/a	chr9:17135562-17135572

Variant related genes	Relation type
CNTLN	TF binding region

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024799	chr9:16631890-17431827	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	esv2764141	chr9:16903446-17351711	Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv892657	chr9:17008137-17223492	Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv892658	chr9:17041557-17532840	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
5	nsv1023525	chr9:17121773-17236072	Enhancers ZNF genes & repeats Strong transcription Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
6	nsv892659	chr9:17130360-17236376	Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
7	nsv892660	chr9:17134245-17269437	Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
8	nsv892661	chr9:17134245-17532840	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:17131200-17134400	Weak transcription	Primary monocytes fromperipheralblood	blood
2	chr9:17131200-17134400	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr9:17131200-17134400	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr9:17131800-17134400	Weak transcription	A549	lung
5	chr9:17132600-17134400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr9:17133600-17134600	Enhancers	Liver	Liver
7	chr9:17133800-17134600	Enhancers	Fetal Stomach	stomach
8	chr9:17134000-17134400	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr9:17134000-17134400	Enhancers	Colon Smooth Muscle	Colon
10	chr9:17134200-17134400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr9:17134200-17134400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr9:17134200-17134400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr9:17134200-17134400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr9:17134200-17134400	Enhancers	Adipose Nuclei	Adipose
15	chr9:17134200-17134400	Enhancers	Brain Angular Gyrus	brain
16	chr9:17134200-17134400	Enhancers	Brain Cingulate Gyrus	brain
17	chr9:17134200-17134400	Enhancers	Brain Inferior Temporal Lobe	brain
18	chr9:17134200-17134400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
19	chr9:17134200-17134400	Enhancers	Duodenum Mucosa	Duodenum
20	chr9:17134200-17134400	Enhancers	Duodenum Smooth Muscle	Duodenum
21	chr9:17134200-17134400	Enhancers	Fetal Brain Male	brain
22	chr9:17134200-17134400	Enhancers	Fetal Heart	heart
23	chr9:17134200-17134400	Enhancers	Fetal Kidney	kidney
24	chr9:17134200-17134400	Enhancers	Fetal Lung	lung
25	chr9:17134200-17134400	Enhancers	Ovary	ovary
26	chr9:17134200-17134400	Enhancers	Rectal Smooth Muscle	rectum
27	chr9:17134200-17134400	Enhancers	Skeletal Muscle Male	skeletal muscle
28	chr9:17134200-17134400	Enhancers	Stomach Smooth Muscle	stomach
29	chr9:17134200-17134400	Enhancers	Dnd41	blood
30	chr9:17134200-17134400	Enhancers	Hela-S3	cervix
31	chr9:17134200-17134400	Enhancers	NHLF	lung
32	chr9:17134200-17134400	Enhancers	Osteobl	bone
33	chr9:17134200-17134600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
34	chr9:17134200-17134600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
35	chr9:17134200-17134600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
36	chr9:17134200-17134600	Enhancers	Brain Germinal Matrix	brain
37	chr9:17134200-17134600	Enhancers	Fetal Intestine Large	intestine
38	chr9:17134200-17134600	Enhancers	Fetal Intestine Small	intestine
39	chr9:17134200-17134600	Enhancers	Fetal Muscle Leg	muscle
40	chr9:17134200-17136400	Active TSS	Fetal Brain Female	brain

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