Variant report

Variant	rs17176043
Chromosome Location	chr14:36994802-36994803
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	CTCF	chr14:36994744-36994986	A549	lung:	n/a	chr14:36994881-36994902 chr14:36994886-36994904 chr14:36994888-36994901 chr14:36994887-36994903
2	RAD21	chr14:36993936-36995125	H1-hESC	embryonic stem cell:	n/a	chr14:36994150-36994162 chr14:36994027-36994034 chr14:36994148-36994167 chr14:36994886-36994898 chr14:36994884-36994903 chr14:36994151-36994164
3	CTCF	chr14:36994756-36995043	MCF-7	breast:	n/a	chr14:36994881-36994902 chr14:36994886-36994904 chr14:36994888-36994901 chr14:36994887-36994903
4	RAD21	chr14:36994783-36994977	K562	blood:	n/a	chr14:36994886-36994898 chr14:36994884-36994903
5	CTCF	chr14:36994780-36994930	GM12871	blood:	n/a	chr14:36994881-36994902 chr14:36994886-36994904 chr14:36994888-36994901 chr14:36994887-36994903
6	CTCF	chr14:36994720-36994870	GM12869	blood:	n/a	n/a
7	CTCF	chr14:36994780-36994930	GM06990	blood:	n/a	chr14:36994881-36994902 chr14:36994886-36994904 chr14:36994888-36994901 chr14:36994887-36994903
8	CTCF	chr14:36994718-36995051	SK-N-SH_RA	brain:	n/a	chr14:36994881-36994902 chr14:36994886-36994904 chr14:36994888-36994901 chr14:36994887-36994903
9	ZNF143	chr14:36994677-36995110	H1-hESC	embryonic stem cell:	n/a	n/a
10	CTCF	chr14:36994714-36995082	K562	blood:	n/a	chr14:36994881-36994902 chr14:36994886-36994904 chr14:36994888-36994901 chr14:36994887-36994903
11	CTCF	chr14:36994606-36995132	K562	blood:	n/a	chr14:36994881-36994902 chr14:36994886-36994904 chr14:36994888-36994901 chr14:36994887-36994903
12	SIN3A	chr14:36994741-36995070	H1-hESC	embryonic stem cell:	n/a	n/a
13	CTCF	chr14:36994760-36994910	NHDF-neo	bronchial:	n/a	chr14:36994881-36994902 chr14:36994886-36994904 chr14:36994888-36994901 chr14:36994887-36994903
14	CTCF	chr14:36994800-36994950	K562	blood:	n/a	chr14:36994881-36994902 chr14:36994886-36994904 chr14:36994888-36994901 chr14:36994887-36994903
15	CTCF	chr14:36994800-36994950	HCFaa	heart:	n/a	chr14:36994881-36994902 chr14:36994886-36994904 chr14:36994888-36994901 chr14:36994887-36994903
16	CTCF	chr14:36994780-36994930	GM12872	blood:	n/a	chr14:36994881-36994902 chr14:36994886-36994904 chr14:36994888-36994901 chr14:36994887-36994903
17	CTCF	chr14:36994760-36994910	HCT-116	colon:	n/a	chr14:36994881-36994902 chr14:36994886-36994904 chr14:36994888-36994901 chr14:36994887-36994903
18	RAD21	chr14:36994730-36995018	HepG2	liver:	n/a	chr14:36994886-36994898 chr14:36994884-36994903
19	CTCF	chr14:36994707-36995049	HepG2	liver:	n/a	chr14:36994881-36994902 chr14:36994886-36994904 chr14:36994888-36994901 chr14:36994887-36994903
20	CTCF	chr14:36994620-36995088	A549	lung:	n/a	chr14:36994881-36994902 chr14:36994886-36994904 chr14:36994888-36994901 chr14:36994887-36994903
21	CTCF	chr14:36994802-36994964	SK-N-SH_RA	brain:	n/a	chr14:36994881-36994902 chr14:36994886-36994904 chr14:36994888-36994901 chr14:36994887-36994903
22	CTCF	chr14:36994769-36995009	Lung_OC	lung:	n/a	chr14:36994881-36994902 chr14:36994886-36994904 chr14:36994888-36994901 chr14:36994887-36994903
23	CTCF	chr14:36994800-36994950	BE2_C	brain:	n/a	chr14:36994881-36994902 chr14:36994886-36994904 chr14:36994888-36994901 chr14:36994887-36994903
24	CTCF	chr14:36994716-36995076	K562	blood:	n/a	chr14:36994881-36994902 chr14:36994886-36994904 chr14:36994888-36994901 chr14:36994887-36994903
25	RCOR1	chr14:36994777-36994956	HepG2	liver:	n/a	n/a
26	RAD21	chr14:36994621-36995179	MCF-7	breast:	n/a	chr14:36994886-36994898 chr14:36994884-36994903
27	CTCF	chr14:36993966-36995204	SK-N-SH	brain:	n/a	chr14:36994881-36994902 chr14:36994886-36994904 chr14:36994152-36994165 chr14:36994152-36994165 chr14:36994150-36994168 chr14:36994151-36994167 chr14:36994888-36994901 chr14:36994887-36994903
28	JUND	chr14:36994149-36995115	H1-hESC	embryonic stem cell:	n/a	n/a
29	CTCF	chr14:36993839-36995370	A549	lung:	n/a	chr14:36994881-36994902 chr14:36994886-36994904 chr14:36994152-36994165 chr14:36994152-36994165 chr14:36994150-36994168 chr14:36994151-36994167 chr14:36994888-36994901 chr14:36994887-36994903
30	CTCF	chr14:36994791-36995014	Pancreas_OC	pancreas:	n/a	chr14:36994881-36994902 chr14:36994886-36994904 chr14:36994888-36994901 chr14:36994887-36994903
31	CTCF	chr14:36994703-36995097	K562	blood:	n/a	chr14:36994881-36994902 chr14:36994886-36994904 chr14:36994888-36994901 chr14:36994887-36994903
32	RAD21	chr14:36994673-36995045	ECC-1	luminal epithelium:	n/a	chr14:36994886-36994898 chr14:36994884-36994903
33	RAD21	chr14:36993996-36995163	H1-hESC	embryonic stem cell:	n/a	chr14:36994150-36994162 chr14:36994027-36994034 chr14:36994148-36994167 chr14:36994886-36994898 chr14:36994884-36994903 chr14:36994151-36994164
34	RAD21	chr14:36994663-36995090	A549	lung:	n/a	chr14:36994886-36994898 chr14:36994884-36994903
35	TBP	chr14:36994657-36994908	H1-hESC	embryonic stem cell:	n/a	n/a
36	TEAD4	chr14:36994740-36995043	H1-hESC	embryonic stem cell:	n/a	n/a
37	CTCF	chr14:36994780-36994930	HRPEpiC	eye:	n/a	chr14:36994881-36994902 chr14:36994886-36994904 chr14:36994888-36994901 chr14:36994887-36994903
38	CTCF	chr14:36993873-36995108	HepG2	liver:	n/a	chr14:36994881-36994902 chr14:36994886-36994904 chr14:36994152-36994165 chr14:36994152-36994165 chr14:36994150-36994168 chr14:36994151-36994167 chr14:36994888-36994901 chr14:36994887-36994903
39	RAD21	chr14:36994612-36995123	H1-hESC	embryonic stem cell:	n/a	chr14:36994886-36994898 chr14:36994884-36994903
40	CTCF	chr14:36994752-36995044	H1-hESC	embryonic stem cell:	n/a	chr14:36994881-36994902 chr14:36994886-36994904 chr14:36994888-36994901 chr14:36994887-36994903
41	CTCF	chr14:36994777-36995035	MCF-7	breast:	n/a	chr14:36994881-36994902 chr14:36994886-36994904 chr14:36994888-36994901 chr14:36994887-36994903
42	CTCF	chr14:36994780-36994930	NHEK	skin:	n/a	chr14:36994881-36994902 chr14:36994886-36994904 chr14:36994888-36994901 chr14:36994887-36994903
43	CTCF	chr14:36994754-36995034	MCF-7	breast:	n/a	chr14:36994881-36994902 chr14:36994886-36994904 chr14:36994888-36994901 chr14:36994887-36994903
44	SUZ12	chr14:36990826-36995085	H1-hESC	embryonic stem cell:	n/a	n/a
45	CTCF	chr14:36994800-36994950	HVMF	connective:	n/a	chr14:36994881-36994902 chr14:36994886-36994904 chr14:36994888-36994901 chr14:36994887-36994903
46	RAD21	chr14:36994778-36995049	HepG2	liver:	n/a	chr14:36994886-36994898 chr14:36994884-36994903
47	CTCF	chr14:36994780-36994930	HCPEpiC	choroid plexus:	n/a	chr14:36994881-36994902 chr14:36994886-36994904 chr14:36994888-36994901 chr14:36994887-36994903
48	CTCF	chr14:36994780-36994930	AG09309	skin:	n/a	chr14:36994881-36994902 chr14:36994886-36994904 chr14:36994888-36994901 chr14:36994887-36994903
49	CTCF	chr14:36994800-36994950	GM12870	blood:	n/a	chr14:36994881-36994902 chr14:36994886-36994904 chr14:36994888-36994901 chr14:36994887-36994903
50	CTCF	chr14:36994748-36994966	A549	lung:	n/a	chr14:36994881-36994902 chr14:36994886-36994904 chr14:36994888-36994901 chr14:36994887-36994903

No.	Distal block	Cell Line	Cell type
1	chr14:36994601..36995313-chr3:64253518..64254229,2	MCF-7	breast:
2	chr14:36574395..36574937-chr14:36994454..36995363,2	MCF-7	breast:
3	chr14:36676641..36677323-chr14:36994485..36995249,2	MCF-7	breast:
4	chr14:36877517..36878211-chr14:36994385..36995299,2	MCF-7	breast:
5	chr14:36986593..36988111-chr14:36992508..36994903,2	MCF-7	breast:
6	chr14:36918821..36920421-chr14:36994175..36995365,7	MCF-7	breast:
7	chr14:36994689..36995219-chr14:37618538..37619479,2	MCF-7	breast:
8	chr14:36919935..36920446-chr14:36994636..36995297,2	MCF-7	breast:

Variant related genes	Relation type
NKX2-1	TF binding region
ENSG00000163637	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10483472	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap]
rs12589521	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12589522	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12589672	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12891724	0.90[ASN][1000 genomes]
rs12894724	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs12895465	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs17765733	0.89[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs2075578	0.90[EUR][1000 genomes]
rs34325207	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35710229	0.90[EUR][1000 genomes]
rs3809437	0.82[CHD][hapmap];0.92[JPT][hapmap]
rs8015279	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040256	chr14:36501452-37172046	Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
2	nsv542040	chr14:36501452-37172046	Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
3	nsv1047290	chr14:36564568-37445157	Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	43 gene(s)	inside rSNPs	diseases
4	nsv1037952	chr14:36670484-37294692	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
5	nsv542042	chr14:36670484-37294692	Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
6	nsv1053685	chr14:36915643-37245920	Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
7	nsv917279	chr14:36953511-37146655	Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Educational attainment	25201988	GWAS catalog

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:36991600-36995000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
2	chr14:36993400-36995200	Bivalent Enhancer	Liver	Liver
3	chr14:36993600-36995000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr14:36993600-36995000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
5	chr14:36993800-36995000	Enhancers	Pancreas	Pancrea
6	chr14:36994000-36995200	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr14:36994000-36995400	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
8	chr14:36994000-36995400	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
9	chr14:36994200-36995000	Bivalent Enhancer	Placenta	Placenta
10	chr14:36994200-36995000	Flanking Bivalent TSS/Enh	HepG2	liver
11	chr14:36994200-36995000	Bivalent/Poised TSS	NHEK	skin
12	chr14:36994200-36995200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
13	chr14:36994200-36995200	Bivalent Enhancer	Brain Hippocampus Middle	brain
14	chr14:36994200-36995200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
15	chr14:36994200-36995200	Bivalent/Poised TSS	A549	lung
16	chr14:36994400-36995000	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
17	chr14:36994400-36995200	Bivalent Enhancer	Adipose Nuclei	Adipose
18	chr14:36994600-36995000	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
19	chr14:36994800-36995000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr14:36994800-36995000	Bivalent Enhancer	Fetal Muscle Leg	muscle
21	chr14:36994800-36995000	Bivalent/Poised TSS	Right Ventricle	heart
22	chr14:36994800-36995000	Bivalent Enhancer	Stomach Smooth Muscle	stomach
23	chr14:36994800-36995200	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
24	chr14:36994800-36995200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
25	chr14:36994800-36995200	Bivalent Enhancer	Brain Inferior Temporal Lobe	brain
26	chr14:36994800-36995400	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell

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