Variant report

Variant	rs144584987
Chromosome Location	chr9:17134903-17134904
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	POLR2A	chr9:17134684-17135405	HL-60	blood:	n/a	n/a
2	TAF1	chr9:17134869-17135229	GM12892	blood:	n/a	n/a
3	REST	chr9:17134763-17135101	SK-N-SH	brain:	n/a	n/a
4	POLR2A	chr9:17134584-17135791	H1-hESC	embryonic stem cell:	n/a	n/a
5	TAF7	chr9:17134696-17135237	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr9:17134513-17135784	ECC-1	luminal epithelium:	n/a	n/a
7	MYBL2	chr9:17134767-17135078	HepG2	liver:	n/a	n/a
8	BRCA1	chr9:17134617-17135090	Hela-S3	cervix:	n/a	n/a
9	TCF12	chr9:17134592-17135439	ECC-1	luminal epithelium:	n/a	n/a
10	POLR2A	chr9:17134778-17135250	HCT-116	colon:	n/a	n/a
11	HA-E2F1	chr9:17134686-17135603	Hela-S3	cervix:	n/a	chr9:17134779-17134786 chr9:17134953-17134965 chr9:17134779-17134786 chr9:17134779-17134786 chr9:17134953-17134964 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
12	POLR2A	chr9:17134448-17135841	Hela-S3	cervix:	n/a	n/a
13	MAX	chr9:17134383-17135869	A549	lung:	n/a	chr9:17135562-17135572
14	GATA1	chr9:17133794-17135869	PBDE	blood:	n/a	chr9:17134499-17134506 chr9:17134125-17134146 chr9:17134128-17134144 chr9:17134128-17134144
15	HEY1	chr9:17134862-17135196	HepG2	liver:	n/a	n/a
16	YY1	chr9:17134782-17135519	SK-N-SH_RA	brain:	n/a	n/a
17	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
18	POLR2A	chr9:17134707-17135706	GM12892	blood:	n/a	n/a
19	SP1	chr9:17134684-17135415	A549	lung:	n/a	n/a
20	FOXA2	chr9:17134588-17135230	A549	lung:	n/a	n/a
21	POLR2A	chr9:17134378-17135856	Hela-S3	cervix:	n/a	n/a
22	TAF1	chr9:17134736-17135190	HepG2	liver:	n/a	n/a
23	RFX5	chr9:17134508-17136086	Hela-S3	cervix:	n/a	n/a
24	YY1	chr9:17134861-17135532	NT2-D1	testis:	n/a	n/a
25	USF1	chr9:17134697-17135142	A549	lung:	n/a	n/a
26	POLR2A	chr9:17134603-17135340	PFSK-1	brain:	n/a	n/a
27	POLR2A	chr9:17134882-17135197	HepG2	liver:	n/a	n/a
28	YY1	chr9:17134864-17135242	HepG2	liver:	n/a	n/a
29	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
30	RCOR1	chr9:17134263-17136162	Hela-S3	cervix:	n/a	n/a
31	POLR2A	chr9:17134687-17135579	HL-60	blood:	n/a	n/a
32	POLR2A	chr9:17134628-17135297	U87	brain:	n/a	n/a
33	POLR2A	chr9:17134560-17135907	Hela-S3	cervix:	n/a	n/a
34	USF1	chr9:17134779-17135145	SK-N-SH_RA	brain:	n/a	n/a
35	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
36	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
37	USF1	chr9:17134721-17135335	ECC-1	luminal epithelium:	n/a	n/a
38	POLR2A	chr9:17134693-17135239	A549	lung:	n/a	n/a
39	POLR2A	chr9:17134673-17135983	IMR90	lung:	n/a	n/a
40	POLR2A	chr9:17134595-17135771	PFSK-1	brain:	n/a	n/a
41	POLR2A	chr9:17134437-17135754	Raji	blood:	n/a	n/a
42	POLR2A	chr9:17134552-17135835	GM12892	blood:	n/a	n/a
43	CTBP2	chr9:17134341-17135818	H1-hESC	embryonic stem cell:	n/a	n/a
44	YY1	chr9:17134823-17135566	GM12892	blood:	n/a	n/a
45	TEAD4	chr9:17134675-17135292	H1-hESC	embryonic stem cell:	n/a	n/a
46	FOXP2	chr9:17134699-17135254	SK-N-MC	brain:	n/a	n/a
47	REST	chr9:17134820-17135257	SK-N-SH	brain:	n/a	n/a
48	POLR2A	chr9:17134628-17135313	U87	brain:	n/a	n/a
49	SP4	chr9:17134741-17135239	H1-hESC	embryonic stem cell:	n/a	n/a
50	NFIC	chr9:17134414-17135778	ECC-1	luminal epithelium:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:43121428..43122109-chr9:17134722..17135406,2	Hela-S3	cervix:
2	chr1:11969364..11970234-chr9:17134620..17135236,2	Hela-S3	cervix:
3	chr15:23810837..23811461-chr9:17134816..17135417,2	NB4	blood:
4	chr13:49549584..49550165-chr9:17134587..17135235,2	NB4	blood:

Variant related genes	Relation type
CNTLN	TF binding region
ENSG00000102531	Chromatin interaction
ENSG00000179455	Chromatin interaction
ENSG00000201801	Chromatin interaction
ENSG00000172262	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:117 , 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	chr9:17134400-17135000	Flanking Active TSS	Adipose Nuclei	Adipose
3	chr9:17134400-17135000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
4	chr9:17134400-17135000	Flanking Active TSS	Fetal Brain Male	brain
5	chr9:17134400-17135000	Flanking Active TSS	Dnd41	blood
6	chr9:17134400-17135000	Flanking Active TSS	NHLF	lung
7	chr9:17134400-17135000	Flanking Active TSS	Osteobl	bone
8	chr9:17134400-17135200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
9	chr9:17134400-17135800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr9:17134400-17136000	Active TSS	Breast Myoepithelial Primary Cells	Breast
11	chr9:17134400-17136000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr9:17134400-17136000	Active TSS	Brain Hippocampus Middle	brain
13	chr9:17134400-17136000	Active TSS	Brain Substantia Nigra	brain
14	chr9:17134400-17136200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr9:17134400-17136200	Active TSS	Brain Anterior Caudate	brain
16	chr9:17134400-17136400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr9:17134400-17136400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr9:17134600-17135000	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr9:17134600-17135000	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr9:17134600-17135000	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr9:17134600-17135000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr9:17134600-17135000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
23	chr9:17134600-17135000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
24	chr9:17134600-17135000	Flanking Active TSS	Primary B cells from peripheral blood	blood
25	chr9:17134600-17135000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
26	chr9:17134600-17135000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
27	chr9:17134600-17135000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
28	chr9:17134600-17135000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr9:17134600-17135000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr9:17134600-17135000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr9:17134600-17135000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr9:17134600-17135000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
33	chr9:17134600-17135000	Flanking Active TSS	Esophagus	oesophagus
34	chr9:17134600-17135000	Flanking Active TSS	Fetal Muscle Trunk	muscle
35	chr9:17134600-17135000	Flanking Active TSS	Fetal Muscle Leg	muscle
36	chr9:17134600-17135000	Flanking Active TSS	Fetal Stomach	stomach
37	chr9:17134600-17135000	Flanking Active TSS	Fetal Thymus	thymus
38	chr9:17134600-17135000	Flanking Active TSS	Gastric	stomach
39	chr9:17134600-17135000	Flanking Active TSS	Lung	lung
40	chr9:17134600-17135000	Flanking Active TSS	Right Ventricle	heart
41	chr9:17134600-17135000	Flanking Active TSS	Sigmoid Colon	Sigmoid Colon
42	chr9:17134600-17135000	Flanking Active TSS	Thymus	Thymus
43	chr9:17134600-17135000	Flanking Active TSS	HMEC	breast
44	chr9:17134600-17135000	Flanking Active TSS	HUVEC	blood vessel
45	chr9:17134600-17135000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
46	chr9:17134600-17135000	Flanking Active TSS	NHEK	skin
47	chr9:17134600-17135200	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr9:17134600-17135200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr9:17134600-17135400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr9:17134600-17135600	Active TSS	Primary hematopoietic stem cells short term culture	blood

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