Variant report

Variant	rs73980863
Chromosome Location	chr17:18150387-18150388
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	POLR2A	chr17:18150261-18150975	HUVEC	blood vessel:	n/a	n/a
2	MAX	chr17:18150107-18150974	ECC-1	luminal epithelium:	n/a	chr17:18150829-18150839
3	TAF1	chr17:18150148-18150417	H1-hESC	embryonic stem cell:	n/a	n/a
4	MAX	chr17:18150152-18150900	K562	blood:	n/a	chr17:18150829-18150839
5	CTCF	chr17:18150280-18150430	HMEC	breast:	n/a	n/a
6	CTCF	chr17:18150260-18150410	SAEC	small airway:	n/a	n/a
7	MYC	chr17:18150214-18150821	H1-hESC	embryonic stem cell:	n/a	n/a
8	CTCF	chr17:18150288-18150405	NHEK	skin:	n/a	n/a
9	HMGN3	chr17:18149851-18151113	K562	blood:	n/a	n/a
10	POLR2A	chr17:18148185-18151299	H1-hESC	embryonic stem cell:	n/a	n/a
11	CTCF	chr17:18150240-18150390	WERI-Rb-1	eye:	n/a	n/a
12	TCF12	chr17:18150256-18150868	ECC-1	luminal epithelium:	n/a	n/a
13	TAF1	chr17:18150378-18150761	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr17:18149863-18150412	H1-hESC	embryonic stem cell:	n/a	n/a
15	TCF7L2	chr17:18150215-18150901	HCT-116	colon:	n/a	n/a
16	RCOR1	chr17:18150201-18150843	K562	blood:	n/a	n/a
17	IRF1	chr17:18150327-18150917	K562	blood:	n/a	chr17:18150830-18150844 chr17:18150779-18150793
18	POLR2A	chr17:18148876-18151111	H1-hESC	embryonic stem cell:	n/a	n/a
19	POLR2A	chr17:18150165-18150410	GM12878	blood:	n/a	n/a
20	MAZ	chr17:18150111-18151008	K562	blood:	n/a	chr17:18150829-18150839
21	POLR2A	chr17:18150022-18150441	U87	brain:	n/a	n/a
22	USF2	chr17:18150196-18151335	H1-hESC	embryonic stem cell:	n/a	n/a
23	JUND	chr17:18150280-18150409	H1-hESC	embryonic stem cell:	n/a	chr17:18150383-18150392
24	SIN3A	chr17:18149971-18151018	H1-hESC	embryonic stem cell:	n/a	chr17:18150182-18150191
25	POLR2A	chr17:18150163-18150398	H1-hESC	embryonic stem cell:	n/a	n/a
26	POLR2A	chr17:18150130-18151062	ECC-1	luminal epithelium:	n/a	n/a
27	POLR2A	chr17:18150079-18150400	GM12878	blood:	n/a	n/a
28	BHLHE40	chr17:18150141-18150733	K562	blood:	n/a	n/a
29	SP1	chr17:18150090-18150693	H1-hESC	embryonic stem cell:	n/a	chr17:18150381-18150390 chr17:18150380-18150392 chr17:18150380-18150392
30	MAX	chr17:18150248-18150780	H1-hESC	embryonic stem cell:	n/a	n/a
31	JUND	chr17:18150224-18151033	H1-hESC	embryonic stem cell:	n/a	chr17:18150779-18150788 chr17:18150383-18150392
32	MXI1	chr17:18150146-18150835	H1-hESC	embryonic stem cell:	n/a	n/a
33	MAX	chr17:18150098-18151075	ECC-1	luminal epithelium:	n/a	chr17:18150829-18150839
34	MAX	chr17:18150201-18150949	H1-hESC	embryonic stem cell:	n/a	chr17:18150829-18150839
35	CTCF	chr17:18150309-18150416	H1-hESC	embryonic stem cell:	n/a	n/a
36	TBP	chr17:18150231-18150890	H1-hESC	embryonic stem cell:	n/a	n/a
37	GTF2F1	chr17:18150369-18150874	H1-hESC	embryonic stem cell:	n/a	n/a
38	POLR2A	chr17:18148235-18151037	K562	blood:	n/a	n/a
39	YY1	chr17:18150348-18150873	ECC-1	luminal epithelium:	n/a	chr17:18150831-18150840
40	MYC	chr17:18150310-18150886	K562	blood:	n/a	chr17:18150829-18150839
41	CTCF	chr17:18150240-18150390	NHEK	skin:	n/a	n/a
42	JUND	chr17:18150380-18150824	K562	blood:	n/a	chr17:18150779-18150788 chr17:18150383-18150392
43	POLR2A	chr17:18150207-18151397	K562	blood:	n/a	n/a
44	EP300	chr17:18150194-18150732	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr17:18127536..18130433-chr17:18148836..18151541,2	MCF-7	breast:
2	chr17:18149206..18150883-chr17:18160011..18162354,3	K562	blood:
3	chr17:18136077..18142771-chr17:18143654..18157956,22	MCF-7	breast:
4	chr17:18149918..18152295-chr17:18264840..18266898,2	MCF-7	breast:
5	chr17:18150015..18153243-chr17:18155020..18158436,5	K562	blood:
6	chr17:18128887..18137475-chr17:18144772..18151698,11	K562	blood:
7	chr17:18128446..18130837-chr17:18148104..18152552,6	MCF-7	breast:
8	chr17:18125152..18133137-chr17:18145532..18152012,9	K562	blood:

Variant related genes	Relation type
FLII	TF binding region
ENSG00000177731	Chromatin interaction
ENSG00000176974	Chromatin interaction
ENSG00000131899	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs16961060	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28523978	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28630807	0.83[AMR][1000 genomes]
rs4925174	0.83[AMR][1000 genomes]
rs73288220	1.00[EUR][1000 genomes]
rs9893653	0.83[AMR][1000 genomes]
rs9897239	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9897554	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9897954	0.83[AMR][1000 genomes]
rs9898548	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9900382	1.00[EUR][1000 genomes]
rs9904323	0.83[AMR][1000 genomes]
rs9905667	1.00[EUR][1000 genomes]
rs9907277	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9907337	1.00[EUR][1000 genomes]
rs9909732	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9909757	1.00[EUR][1000 genomes]
rs9911649	0.83[AMR][1000 genomes]
rs9941377	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531183	chr17:17571035-18205309	Genic enhancers Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
2	nsv916653	chr17:17651916-18454952	Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
3	nsv533142	chr17:17691726-18236686	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	116 gene(s)	inside rSNPs	diseases
4	nsv482491	chr17:17959577-18153920	Enhancers Genic enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	nsv1061162	chr17:17978838-18259234	Flanking Active TSS Weak transcription Genic enhancers Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
6	nsv492305	chr17:17980441-18424702	Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
7	nsv907773	chr17:18099962-18206234	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
8	nsv907774	chr17:18103907-18206234	Transcr. at gene 5' and 3' Genic enhancers Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
9	nsv907775	chr17:18108496-18206234	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
10	nsv543246	chr17:18121007-18165604	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
11	nsv9503	chr17:18121474-18169166	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
12	nsv907776	chr17:18122485-18170948	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
13	nsv1066718	chr17:18125122-18180807	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
14	nsv907777	chr17:18131087-18163262	Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:18130200-18150800	Weak transcription	Right Atrium	heart
2	chr17:18134600-18150800	Weak transcription	Fetal Brain Male	brain
3	chr17:18134600-18150800	Strong transcription	Fetal Stomach	stomach
4	chr17:18135200-18150600	Strong transcription	Brain Germinal Matrix	brain
5	chr17:18135200-18160000	Strong transcription	Fetal Brain Female	brain
6	chr17:18135400-18159600	Strong transcription	Primary T cells from cord blood	blood
7	chr17:18135400-18160200	Strong transcription	Thymus	Thymus
8	chr17:18135600-18150600	Strong transcription	Adipose Nuclei	Adipose
9	chr17:18135600-18159000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr17:18135600-18159400	Strong transcription	Fetal Lung	lung
11	chr17:18135600-18160000	Strong transcription	Cortex derived primary cultured neurospheres	brain
12	chr17:18135800-18150600	Strong transcription	Stomach Smooth Muscle	stomach
13	chr17:18135800-18160400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr17:18136000-18159800	Strong transcription	Placenta Amnion	Placenta Amnion
15	chr17:18136000-18160000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr17:18136200-18150800	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr17:18136200-18160000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr17:18136200-18160000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr17:18137000-18150600	Strong transcription	Brain Anterior Caudate	brain
20	chr17:18137000-18151000	Strong transcription	Brain Cingulate Gyrus	brain
21	chr17:18139400-18150600	Strong transcription	Brain Angular Gyrus	brain
22	chr17:18139400-18150600	Strong transcription	Brain Inferior Temporal Lobe	brain
23	chr17:18139400-18159800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr17:18139600-18150400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr17:18139600-18150800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr17:18139800-18160000	Strong transcription	Osteobl	bone
27	chr17:18139800-18160200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr17:18140000-18160000	Strong transcription	Muscle Satellite Cultured Cells	--
29	chr17:18140400-18150600	Strong transcription	Brain Substantia Nigra	brain
30	chr17:18140800-18150600	Strong transcription	Brain Hippocampus Middle	brain
31	chr17:18143400-18160200	Strong transcription	NHLF	lung
32	chr17:18143600-18150600	Strong transcription	Right Ventricle	heart
33	chr17:18143600-18160000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr17:18143800-18150600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr17:18143800-18150600	Weak transcription	Fetal Heart	heart
36	chr17:18143800-18160000	Strong transcription	Sigmoid Colon	Sigmoid Colon
37	chr17:18143800-18160200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
38	chr17:18144000-18150600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr17:18144000-18150800	Strong transcription	Skeletal Muscle Female	skeletal muscle
40	chr17:18144000-18160000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr17:18144000-18160200	Strong transcription	Primary monocytes fromperipheralblood	blood
42	chr17:18144200-18159200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr17:18144200-18160000	Strong transcription	Monocytes-CD14+_RO01746	blood
44	chr17:18144400-18151800	Strong transcription	Primary T cells fromperipheralblood	blood
45	chr17:18144600-18150800	Strong transcription	Left Ventricle	heart
46	chr17:18144600-18159600	Strong transcription	Dnd41	blood
47	chr17:18144600-18159800	Strong transcription	Fetal Thymus	thymus
48	chr17:18144800-18159200	Strong transcription	Primary T helper cells fromperipheralblood	blood
49	chr17:18144800-18159800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr17:18145400-18159400	Strong transcription	Primary neutrophils fromperipheralblood	blood

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