Variant report

Variant	rs148875275
Chromosome Location	chr9:17134648-17134649
allele	A/C
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	POLR2A	chr9:17134584-17135791	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr9:17134513-17135784	ECC-1	luminal epithelium:	n/a	n/a
3	BRCA1	chr9:17134617-17135090	Hela-S3	cervix:	n/a	n/a
4	TCF12	chr9:17134592-17135439	ECC-1	luminal epithelium:	n/a	n/a
5	POLR2A	chr9:17134448-17135841	Hela-S3	cervix:	n/a	n/a
6	MAX	chr9:17134383-17135869	A549	lung:	n/a	chr9:17135562-17135572
7	GATA1	chr9:17133794-17135869	PBDE	blood:	n/a	chr9:17134499-17134506 chr9:17134125-17134146 chr9:17134128-17134144 chr9:17134128-17134144
8	E2F6	chr9:17134508-17135460	A549	lung:	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
9	FOXA2	chr9:17134588-17135230	A549	lung:	n/a	n/a
10	POLR2A	chr9:17134378-17135856	Hela-S3	cervix:	n/a	n/a
11	RFX5	chr9:17134508-17136086	Hela-S3	cervix:	n/a	n/a
12	POLR2A	chr9:17134603-17135340	PFSK-1	brain:	n/a	n/a
13	E2F4	chr9:17134434-17135554	Hela-S3	cervix:	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 chr9:17134775-17134787 chr9:17134957-17134964 chr9:17134956-17134965 chr9:17134778-17134787 chr9:17135487-17135494
14	RCOR1	chr9:17134263-17136162	Hela-S3	cervix:	n/a	n/a
15	POLR2A	chr9:17134628-17135297	U87	brain:	n/a	n/a
16	POLR2A	chr9:17134560-17135907	Hela-S3	cervix:	n/a	n/a
17	HA-E2F1	chr9:17134483-17135230	MCF-7	breast:	n/a	chr9:17134779-17134786 chr9:17134953-17134965 chr9:17134779-17134786 chr9:17134779-17134786 chr9:17134953-17134964 chr9:17134957-17134964 chr9:17134957-17134964 chr9:17134775-17134787 chr9:17134957-17134964 chr9:17134956-17134965 chr9:17134778-17134787
18	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
19	POLR2A	chr9:17134595-17135771	PFSK-1	brain:	n/a	n/a
20	POLR2A	chr9:17134437-17135754	Raji	blood:	n/a	n/a
21	POLR2A	chr9:17134552-17135835	GM12892	blood:	n/a	n/a
22	CTBP2	chr9:17134341-17135818	H1-hESC	embryonic stem cell:	n/a	n/a
23	POLR2A	chr9:17134628-17135313	U87	brain:	n/a	n/a
24	NFIC	chr9:17134414-17135778	ECC-1	luminal epithelium:	n/a	n/a
25	MAX	chr9:17134346-17135672	ECC-1	luminal epithelium:	n/a	chr9:17135562-17135572
26	POLR2A	chr9:17134550-17135415	HUVEC	blood vessel:	n/a	n/a
27	SIN3A	chr9:17134358-17135959	H1-hESC	embryonic stem cell:	n/a	chr9:17135583-17135596
28	TCF7L2	chr9:17134476-17135793	Hela-S3	cervix:	n/a	n/a
29	POLR2A	chr9:17134567-17135283	HUVEC	blood vessel:	n/a	n/a
30	MXI1	chr9:17134478-17135816	Hela-S3	cervix:	n/a	n/a
31	POLR2A	chr9:17134235-17136252	GM12891	blood:	n/a	n/a
32	POLR2A	chr9:17134604-17135797	Hela-S3	cervix:	n/a	n/a
33	POLR2A	chr9:17134430-17135428	U87	brain:	n/a	n/a
34	TBP	chr9:17134440-17135881	Hela-S3	cervix:	n/a	n/a
35	ELK1	chr9:17134500-17135184	Hela-S3	cervix:	n/a	n/a
36	BACH1	chr9:17134393-17135230	H1-hESC	embryonic stem cell:	n/a	n/a
37	MAZ	chr9:17134578-17135839	Hela-S3	cervix:	n/a	chr9:17135562-17135572
38	POLR2A	chr9:17134497-17136071	MCF10A-Er-Src	breast:	n/a	n/a
39	ZNF143	chr9:17134472-17135609	Hela-S3	cervix:	n/a	chr9:17135586-17135596 chr9:17135566-17135576
40	ZNF143	chr9:17134621-17135922	H1-hESC	embryonic stem cell:	n/a	chr9:17135586-17135596 chr9:17135566-17135576
41	MYC	chr9:17134594-17135250	MCF10A-Er-Src	breast:	n/a	n/a
42	MAX	chr9:17134631-17135312	HUVEC	blood vessel:	n/a	n/a
43	GTF2F1	chr9:17134554-17135735	H1-hESC	embryonic stem cell:	n/a	n/a
44	TAF1	chr9:17134476-17135832	H1-hESC	embryonic stem cell:	n/a	n/a
45	MXI1	chr9:17134420-17135466	H1-hESC	embryonic stem cell:	n/a	n/a
46	TAF1	chr9:17134317-17135887	ECC-1	luminal epithelium:	n/a	n/a
47	MAX	chr9:17134310-17135877	ECC-1	luminal epithelium:	n/a	chr9:17135562-17135572
48	USF2	chr9:17134585-17135464	H1-hESC	embryonic stem cell:	n/a	n/a
49	MAX	chr9:17134449-17135780	SK-N-SH	brain:	n/a	chr9:17135562-17135572
50	POLR2A	chr9:17134637-17135785	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:11969364..11970234-chr9:17134620..17135236,2	Hela-S3	cervix:
2	chr13:49549584..49550165-chr9:17134587..17135235,2	NB4	blood:

Variant related genes	Relation type
CNTLN	TF binding region
ENSG00000102531	Chromatin interaction
ENSG00000201801	Chromatin interaction

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:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:17134200-17136400	Active TSS	Fetal Brain Female	brain
2	chr9:17134400-17134800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr9:17134400-17134800	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
4	chr9:17134400-17134800	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
5	chr9:17134400-17134800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr9:17134400-17134800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr9:17134400-17134800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr9:17134400-17134800	Flanking Active TSS	Brain Angular Gyrus	brain
9	chr9:17134400-17134800	Flanking Active TSS	Brain Cingulate Gyrus	brain
10	chr9:17134400-17134800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
11	chr9:17134400-17134800	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
12	chr9:17134400-17134800	Flanking Active TSS	Colon Smooth Muscle	Colon
13	chr9:17134400-17134800	Flanking Active TSS	Duodenum Mucosa	Duodenum
14	chr9:17134400-17134800	Flanking Active TSS	Fetal Heart	heart
15	chr9:17134400-17134800	Flanking Active TSS	Fetal Kidney	kidney
16	chr9:17134400-17134800	Flanking Active TSS	Fetal Lung	lung
17	chr9:17134400-17134800	Flanking Active TSS	Ovary	ovary
18	chr9:17134400-17134800	Flanking Active TSS	Rectal Smooth Muscle	rectum
19	chr9:17134400-17134800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
20	chr9:17134400-17134800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
21	chr9:17134400-17134800	Flanking Active TSS	Stomach Smooth Muscle	stomach
22	chr9:17134400-17134800	Flanking Active TSS	A549	lung
23	chr9:17134400-17134800	Flanking Active TSS	Hela-S3	cervix
24	chr9:17134400-17134800	Enhancers	HepG2	liver
25	chr9:17134400-17134800	Flanking Active TSS	NHDF-Ad	bronchial
26	chr9:17134400-17135000	Flanking Active TSS	Adipose Nuclei	Adipose
27	chr9:17134400-17135000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
28	chr9:17134400-17135000	Flanking Active TSS	Fetal Brain Male	brain
29	chr9:17134400-17135000	Flanking Active TSS	Dnd41	blood
30	chr9:17134400-17135000	Flanking Active TSS	NHLF	lung
31	chr9:17134400-17135000	Flanking Active TSS	Osteobl	bone
32	chr9:17134400-17135200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
33	chr9:17134400-17135800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr9:17134400-17136000	Active TSS	Breast Myoepithelial Primary Cells	Breast
35	chr9:17134400-17136000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr9:17134400-17136000	Active TSS	Brain Hippocampus Middle	brain
37	chr9:17134400-17136000	Active TSS	Brain Substantia Nigra	brain
38	chr9:17134400-17136200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr9:17134400-17136200	Active TSS	Brain Anterior Caudate	brain
40	chr9:17134400-17136400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr9:17134400-17136400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr9:17134600-17134800	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
43	chr9:17134600-17134800	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
44	chr9:17134600-17134800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
45	chr9:17134600-17134800	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
46	chr9:17134600-17134800	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
47	chr9:17134600-17134800	Flanking Bivalent TSS/Enh	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr9:17134600-17134800	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
49	chr9:17134600-17134800	Flanking Active TSS	Primary B cells from cord blood	blood
50	chr9:17134600-17134800	Flanking Active TSS	Primary T cells from cord blood	blood

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