Variant report

Variant	rs11623992
Chromosome Location	chr14:36994398-36994399
allele	C/T
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	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
2	CTCF	chr14:36994077-36994621	A549	lung:	n/a	chr14:36994152-36994165 chr14:36994152-36994165 chr14:36994150-36994168 chr14:36994151-36994167
3	CTCF	chr14:36994083-36994521	NHEK	skin:	n/a	chr14:36994152-36994165 chr14:36994152-36994165 chr14:36994150-36994168 chr14:36994151-36994167
4	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
5	JUND	chr14:36994149-36995115	H1-hESC	embryonic stem cell:	n/a	n/a
6	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
7	CTCF	chr14:36994365-36994461	HepG2	liver:	n/a	n/a
8	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
9	CTCF	chr14:36994260-36994410	HFF-Myc	foreskin:	n/a	n/a
10	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
11	CTCF	chr14:36994360-36994510	HCT-116	colon:	n/a	n/a
12	SUZ12	chr14:36990826-36995085	H1-hESC	embryonic stem cell:	n/a	n/a
13	CTCF	chr14:36994070-36994530	H1-hESC	embryonic stem cell:	n/a	chr14:36994152-36994165 chr14:36994152-36994165 chr14:36994150-36994168 chr14:36994151-36994167
14	CTCF	chr14:36993973-36994444	A549	lung:	n/a	chr14:36994152-36994165 chr14:36994152-36994165 chr14:36994150-36994168 chr14:36994151-36994167
15	CTCF	chr14:36994260-36994410	HCM	heart:	n/a	n/a
16	CTCF	chr14:36994081-36995137	HCT-116	colon:	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
17	CTCF	chr14:36994009-36994591	HepG2	liver:	n/a	chr14:36994152-36994165 chr14:36994152-36994165 chr14:36994150-36994168 chr14:36994151-36994167
18	BACH1	chr14:36994246-36994897	H1-hESC	embryonic stem cell:	n/a	n/a
19	CTCF	chr14:36994300-36994450	A549	lung:	n/a	n/a
20	CTCF	chr14:36993969-36994577	A549	lung:	n/a	chr14:36994152-36994165 chr14:36994152-36994165 chr14:36994150-36994168 chr14:36994151-36994167
21	CTCF	chr14:36993999-36995110	H1-hESC	embryonic stem cell:	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
22	CTCF	chr14:36994340-36994490	HCT-116	colon:	n/a	n/a
23	CTCF	chr14:36994300-36994450	RPTEC	kidney:	n/a	n/a
24	CTCF	chr14:36993942-36995159	H1-hESC	embryonic stem cell:	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
25	CTCF	chr14:36994045-36995263	HCT-116	colon:	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
26	CTBP2	chr14:36993358-36995031	H1-hESC	embryonic stem cell:	n/a	n/a
27	ZNF143	chr14:36993405-36994458	H1-hESC	embryonic stem cell:	n/a	chr14:36993567-36993577 chr14:36993843-36993861 chr14:36993838-36993857

No.	Distal block	Cell Line	Cell type
1	chr14:36877517..36878211-chr14:36994385..36995299,2	MCF-7	breast:
2	chr14:36986593..36988111-chr14:36992508..36994903,2	MCF-7	breast:
3	chr14:36918821..36920421-chr14:36994175..36995365,7	MCF-7	breast:

Variant related genes	Relation type
NKX2-1	TF binding region

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs12895406	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56249733	0.93[EUR][1000 genomes];0.90[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

No data

Chromatin state (count:38 , 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	chr14:36993400-36994400	Enhancers	Gastric	stomach
3	chr14:36993400-36994800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr14:36993400-36995200	Bivalent Enhancer	Liver	Liver
5	chr14:36993600-36994400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
6	chr14:36993600-36994600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
7	chr14:36993600-36994800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr14:36993600-36995000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr14:36993600-36995000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
10	chr14:36993800-36994800	Bivalent Enhancer	Colonic Mucosa	Colon
11	chr14:36993800-36994800	Bivalent Enhancer	Right Ventricle	heart
12	chr14:36993800-36995000	Enhancers	Pancreas	Pancrea
13	chr14:36994000-36995200	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr14:36994000-36995400	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
15	chr14:36994000-36995400	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
16	chr14:36994200-36994400	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr14:36994200-36994400	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr14:36994200-36994400	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
19	chr14:36994200-36994400	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
20	chr14:36994200-36994400	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr14:36994200-36994400	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
22	chr14:36994200-36994400	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
23	chr14:36994200-36994400	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
24	chr14:36994200-36994800	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
25	chr14:36994200-36994800	Bivalent Enhancer	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr14:36994200-36994800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
27	chr14:36994200-36994800	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr14:36994200-36994800	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr14:36994200-36994800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
30	chr14:36994200-36994800	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr14:36994200-36994800	Bivalent Enhancer	HMEC	breast
32	chr14:36994200-36995000	Bivalent Enhancer	Placenta	Placenta
33	chr14:36994200-36995000	Flanking Bivalent TSS/Enh	HepG2	liver
34	chr14:36994200-36995000	Bivalent/Poised TSS	NHEK	skin
35	chr14:36994200-36995200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
36	chr14:36994200-36995200	Bivalent Enhancer	Brain Hippocampus Middle	brain
37	chr14:36994200-36995200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
38	chr14:36994200-36995200	Bivalent/Poised TSS	A549	lung

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