Variant report

Variant	rs185852877
Chromosome Location	chr9:17134560-17134561
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	chr9:17134513-17135784	ECC-1	luminal epithelium:	n/a	n/a
2	POLR2A	chr9:17134448-17135841	Hela-S3	cervix:	n/a	n/a
3	MAX	chr9:17134383-17135869	A549	lung:	n/a	chr9:17135562-17135572
4	GATA1	chr9:17133794-17135869	PBDE	blood:	n/a	chr9:17134499-17134506 chr9:17134125-17134146 chr9:17134128-17134144 chr9:17134128-17134144
5	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
6	POLR2A	chr9:17134378-17135856	Hela-S3	cervix:	n/a	n/a
7	FOS	chr9:17134358-17134640	MCF10A-Er-Src	breast:	n/a	chr9:17134379-17134388
8	RFX5	chr9:17134508-17136086	Hela-S3	cervix:	n/a	n/a
9	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
10	RCOR1	chr9:17134263-17136162	Hela-S3	cervix:	n/a	n/a
11	POLR2A	chr9:17134560-17135907	Hela-S3	cervix:	n/a	n/a
12	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
13	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
14	POLR2A	chr9:17134437-17135754	Raji	blood:	n/a	n/a
15	POLR2A	chr9:17134552-17135835	GM12892	blood:	n/a	n/a
16	CTBP2	chr9:17134341-17135818	H1-hESC	embryonic stem cell:	n/a	n/a
17	NFIC	chr9:17134414-17135778	ECC-1	luminal epithelium:	n/a	n/a
18	MAX	chr9:17134346-17135672	ECC-1	luminal epithelium:	n/a	chr9:17135562-17135572
19	POLR2A	chr9:17134550-17135415	HUVEC	blood vessel:	n/a	n/a
20	SIN3A	chr9:17134358-17135959	H1-hESC	embryonic stem cell:	n/a	chr9:17135583-17135596
21	TCF7L2	chr9:17134476-17135793	Hela-S3	cervix:	n/a	n/a
22	MXI1	chr9:17134478-17135816	Hela-S3	cervix:	n/a	n/a
23	POLR2A	chr9:17134235-17136252	GM12891	blood:	n/a	n/a
24	POLR2A	chr9:17134430-17135428	U87	brain:	n/a	n/a
25	TBP	chr9:17134440-17135881	Hela-S3	cervix:	n/a	n/a
26	ELK1	chr9:17134500-17135184	Hela-S3	cervix:	n/a	n/a
27	BACH1	chr9:17134393-17135230	H1-hESC	embryonic stem cell:	n/a	n/a
28	POLR2A	chr9:17134497-17136071	MCF10A-Er-Src	breast:	n/a	n/a
29	ZNF143	chr9:17134472-17135609	Hela-S3	cervix:	n/a	chr9:17135586-17135596 chr9:17135566-17135576
30	GTF2F1	chr9:17134554-17135735	H1-hESC	embryonic stem cell:	n/a	n/a
31	TAF1	chr9:17134476-17135832	H1-hESC	embryonic stem cell:	n/a	n/a
32	MXI1	chr9:17134420-17135466	H1-hESC	embryonic stem cell:	n/a	n/a
33	TAF1	chr9:17134317-17135887	ECC-1	luminal epithelium:	n/a	n/a
34	MAX	chr9:17134310-17135877	ECC-1	luminal epithelium:	n/a	chr9:17135562-17135572
35	MAX	chr9:17134449-17135780	SK-N-SH	brain:	n/a	chr9:17135562-17135572
36	MAX	chr9:17134292-17135984	A549	lung:	n/a	chr9:17135562-17135572
37	MXI1	chr9:17134434-17136261	IMR90	lung:	n/a	n/a
38	JUND	chr9:17134409-17135592	H1-hESC	embryonic stem cell:	n/a	n/a
39	POLR2A	chr9:17134180-17136005	SK-N-MC	brain:	n/a	n/a
40	MYC	chr9:17134456-17136074	NB4	blood:	n/a	chr9:17135562-17135572
41	SMC3	chr9:17134416-17135963	Hela-S3	cervix:	n/a	n/a
42	MAX	chr9:17134427-17135819	Hela-S3	cervix:	n/a	chr9:17135562-17135572
43	POLR2A	chr9:17134476-17135441	HUVEC	blood vessel:	n/a	n/a
44	NRF1	chr9:17134270-17135990	SK-N-SH	brain:	n/a	chr9:17134970-17134979 chr9:17134869-17134880
45	ZKSCAN1	chr9:17134522-17135668	Hela-S3	cervix:	n/a	n/a
46	POLR2A	chr9:17134521-17135809	NB4	blood:	n/a	n/a
47	POLR2A	chr9:17134470-17135821	Hela-S3	cervix:	n/a	n/a
48	GTF2F1	chr9:17134415-17135492	Hela-S3	cervix:	n/a	n/a
49	POLR2A	chr9:17134545-17135323	ECC-1	luminal epithelium:	n/a	n/a
50	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

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:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:17133600-17134600	Enhancers	Liver	Liver
2	chr9:17133800-17134600	Enhancers	Fetal Stomach	stomach
3	chr9:17134200-17134600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
4	chr9:17134200-17134600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
5	chr9:17134200-17134600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr9:17134200-17134600	Enhancers	Brain Germinal Matrix	brain
7	chr9:17134200-17134600	Enhancers	Fetal Intestine Large	intestine
8	chr9:17134200-17134600	Enhancers	Fetal Intestine Small	intestine
9	chr9:17134200-17134600	Enhancers	Fetal Muscle Leg	muscle
10	chr9:17134200-17136400	Active TSS	Fetal Brain Female	brain
11	chr9:17134400-17134600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr9:17134400-17134600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr9:17134400-17134600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr9:17134400-17134600	Bivalent Enhancer	H9 Cell Line	embryonic stem cell
15	chr9:17134400-17134600	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
16	chr9:17134400-17134600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr9:17134400-17134600	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
18	chr9:17134400-17134600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
19	chr9:17134400-17134600	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr9:17134400-17134600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr9:17134400-17134600	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr9:17134400-17134600	Enhancers	Primary neutrophils fromperipheralblood	blood
23	chr9:17134400-17134600	Enhancers	Primary B cells from peripheral blood	blood
24	chr9:17134400-17134600	Enhancers	Primary T cells from cord blood	blood
25	chr9:17134400-17134600	Active TSS	Primary hematopoietic stem cells	blood
26	chr9:17134400-17134600	Enhancers	Muscle Satellite Cultured Cells	--
27	chr9:17134400-17134600	Enhancers	Cortex derived primary cultured neurospheres	brain
28	chr9:17134400-17134600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr9:17134400-17134600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr9:17134400-17134600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr9:17134400-17134600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr9:17134400-17134600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr9:17134400-17134600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
34	chr9:17134400-17134600	Enhancers	Colonic Mucosa	Colon
35	chr9:17134400-17134600	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
36	chr9:17134400-17134600	Enhancers	Esophagus	oesophagus
37	chr9:17134400-17134600	Enhancers	Placenta	Placenta
38	chr9:17134400-17134600	Enhancers	Fetal Thymus	thymus
39	chr9:17134400-17134600	Enhancers	Gastric	stomach
40	chr9:17134400-17134600	Enhancers	Lung	lung
41	chr9:17134400-17134600	Bivalent Enhancer	Rectal Mucosa Donor 31	rectum
42	chr9:17134400-17134600	Enhancers	Right Atrium	heart
43	chr9:17134400-17134600	Enhancers	Right Ventricle	heart
44	chr9:17134400-17134600	Enhancers	Sigmoid Colon	Sigmoid Colon
45	chr9:17134400-17134600	Enhancers	Thymus	Thymus
46	chr9:17134400-17134600	Enhancers	HMEC	breast
47	chr9:17134400-17134600	Enhancers	HUVEC	blood vessel
48	chr9:17134400-17134600	Enhancers	Monocytes-CD14+_RO01746	blood
49	chr9:17134400-17134600	Enhancers	NH-A	brain
50	chr9:17134400-17134600	Enhancers	NHEK	skin

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