Variant report

Variant	rs2180197
Chromosome Location	chr14:24777591-24777592
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:185)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:185 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RCOR1	chr14:24776637-24777991	HepG2	liver:	n/a	n/a
2	EP300	chr14:24776869-24777733	HepG2	liver:	n/a	n/a
3	RAD21	chr14:24777249-24777682	SK-N-SH_RA	brain:	n/a	n/a
4	FOXA2	chr14:24776848-24777718	HepG2	liver:	n/a	n/a
5	CTCF	chr14:24777297-24777614	A549	lung:	n/a	n/a
6	HNF4A	chr14:24776483-24777679	HepG2	liver:	n/a	chr14:24777192-24777207 chr14:24777224-24777239
7	SMC3	chr14:24776935-24777709	HepG2	liver:	n/a	n/a
8	NFIC	chr14:24776417-24777981	HepG2	liver:	n/a	n/a
9	CTCF	chr14:24777343-24777618	Lung_OC	lung:	n/a	n/a
10	CTCF	chr14:24777093-24777877	HepG2	liver:	n/a	n/a
11	RFX5	chr14:24777341-24777654	Hela-S3	cervix:	n/a	n/a
12	CTCF	chr14:24777244-24777651	K562	blood:	n/a	n/a
13	CTCF	chr14:24777346-24777632	GM10248	blood:	n/a	n/a
14	SPI1	chr14:24777303-24777792	HL-60	blood:	n/a	n/a
15	RAD21	chr14:24777079-24777801	HCT-116	colon:	n/a	n/a
16	TBP	chr14:24776921-24777621	HepG2	liver:	n/a	n/a
17	CTCF	chr14:24777336-24777709	Gliobla	brain:	n/a	n/a
18	STAT3	chr14:24777284-24777728	GM12878	blood:	n/a	n/a
19	SPI1	chr14:24777230-24777878	GM12878	blood:	n/a	n/a
20	RAD21	chr14:24777284-24777681	A549	lung:	n/a	n/a
21	HEY1	chr14:24776269-24777700	HepG2	liver:	n/a	n/a
22	POLR2A	chr14:24776587-24777713	GM12878	blood:	n/a	n/a
23	CTCF	chr14:24777379-24777606	GM20000	blood:	n/a	n/a
24	JUND	chr14:24777385-24777653	K562	blood:	n/a	n/a
25	RFX5	chr14:24776870-24777627	HepG2	liver:	n/a	n/a
26	SPI1	chr14:24777410-24777592	GM12878	blood:	n/a	n/a
27	CTCF	chr14:24777383-24777618	MCF-7	breast:	n/a	n/a
28	RAD21	chr14:24776692-24777666	HepG2	liver:	n/a	n/a
29	SMC3	chr14:24777283-24777675	Hela-S3	cervix:	n/a	n/a
30	POLR2A	chr14:24776636-24777875	HepG2	liver:	n/a	n/a
31	HDAC2	chr14:24776399-24777704	HepG2	liver:	n/a	n/a
32	CTCF	chr14:24777360-24777636	A549	lung:	n/a	n/a
33	SPI1	chr14:24777249-24777856	HL-60	blood:	n/a	n/a
34	CTCF	chr14:24777272-24777911	GM12878	blood:	n/a	n/a
35	RAD21	chr14:24777286-24777651	H1-hESC	embryonic stem cell:	n/a	n/a
36	POLR2A	chr14:24777576-24777750	HUVEC	blood vessel:	n/a	n/a
37	RAD21	chr14:24777261-24777717	ECC-1	luminal epithelium:	n/a	n/a
38	ZNF143	chr14:24777324-24777671	H1-hESC	embryonic stem cell:	n/a	n/a
39	RAD21	chr14:24777303-24777651	Hela-S3	cervix:	n/a	n/a
40	POLR2A	chr14:24776561-24778176	GM12878	blood:	n/a	n/a
41	POLR2A	chr14:24776231-24777986	HepG2	liver:	n/a	n/a
42	MYBL2	chr14:24776234-24777907	HepG2	liver:	n/a	n/a
43	SP1	chr14:24776626-24777711	HepG2	liver:	n/a	n/a
44	NFIC	chr14:24776350-24777969	HepG2	liver:	n/a	n/a
45	JUND	chr14:24776460-24777806	HepG2	liver:	n/a	n/a
46	RAD21	chr14:24777349-24777650	ECC-1	luminal epithelium:	n/a	n/a
47	STAT1	chr14:24777203-24777854	GM12878	blood:	n/a	n/a
48	RAD21	chr14:24777247-24777739	A549	lung:	n/a	n/a
49	ELF1	chr14:24777194-24777728	GM12878	blood:	n/a	n/a
50	CTCF	chr14:24777331-24777613	A549	lung:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:24682923..24685133-chr14:24776691..24778395,2	MCF-7	breast:
2	chr14:24775299..24777826-chr14:24904340..24907258,3	MCF-7	breast:
3	chr14:24684779..24685489-chr14:24777283..24777942,2	MCF-7	breast:
4	chr14:24710202..24713274-chr14:24777163..24780691,4	K562	blood:
5	chr14:24681591..24684402-chr14:24776273..24778851,2	K562	blood:

No data

Variant related genes	Relation type
LTB4R	TF binding region
LTB4R2	TF binding region
CIDEB	TF binding region
ENSG00000272658	TF binding region
ENSG00000254505	Chromatin interaction
ENSG00000092330	Chromatin interaction
ENSG00000254692	Chromatin interaction
ENSG00000260669	Chromatin interaction
ENSG00000100441	Chromatin interaction
ENSG00000213920	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10138762	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10144194	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10146996	0.82[JPT][hapmap]
rs1053648	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1053649	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12587807	0.96[ASN][1000 genomes]
rs12891891	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12896458	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1950505	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2144492	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2144493	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2281472	1.00[CHB][hapmap];0.88[JPT][hapmap];0.91[ASN][1000 genomes]
rs2295303	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2332232	0.81[ASN][1000 genomes]
rs3181382	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3742510	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3742511	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4247000	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4247001	0.92[CHB][hapmap];0.88[JPT][hapmap];0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4982895	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6573678	1.00[CEU][hapmap];0.92[CHB][hapmap];0.94[JPT][hapmap];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs941506	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]

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	nsv1041336	chr14:24726564-25527319	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
2	nsv542000	chr14:24726564-25527319	Genic enhancers Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
3	nsv901499	chr14:24765622-24787588	Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	n/a
4	nsv901500	chr14:24765622-24793762	Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	n/a
5	nsv564058	chr14:24771285-24786976	Flanking Active TSS Strong transcription Active TSS Genic enhancers Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	n/a
6	nsv901501	chr14:24771285-24793762	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	n/a
7	nsv564059	chr14:24776401-24796813	Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
8	nsv564060	chr14:24776401-24809795	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:24770200-24778600	Strong transcription	Fetal Stomach	stomach
2	chr14:24770200-24779400	Weak transcription	Right Atrium	heart
3	chr14:24770400-24778800	Weak transcription	Fetal Heart	heart
4	chr14:24770400-24782000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr14:24770600-24778000	Strong transcription	Thymus	Thymus
6	chr14:24770600-24781800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr14:24770600-24781800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr14:24770800-24777800	Strong transcription	Esophagus	oesophagus
9	chr14:24770800-24779000	Strong transcription	NHLF	lung
10	chr14:24770800-24779200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr14:24771000-24778200	Strong transcription	Skeletal Muscle Male	skeletal muscle
12	chr14:24771200-24777600	Strong transcription	Primary hematopoietic stem cells	blood
13	chr14:24771600-24780400	Strong transcription	Dnd41	blood
14	chr14:24773600-24779000	Weak transcription	NHDF-Ad	bronchial
15	chr14:24773800-24779000	Weak transcription	Fetal Brain Male	brain
16	chr14:24774000-24779200	Weak transcription	Psoas Muscle	Psoas
17	chr14:24775200-24778400	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr14:24775200-24779400	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr14:24775600-24779400	Weak transcription	Osteobl	bone
20	chr14:24775600-24785800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr14:24775800-24779200	Weak transcription	Small Intestine	intestine
22	chr14:24775800-24779400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr14:24775800-24782200	Weak transcription	HSMMtube	muscle
24	chr14:24775800-24784000	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr14:24776000-24779000	Weak transcription	HUVEC	blood vessel
26	chr14:24776000-24779200	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr14:24776000-24779400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr14:24776000-24779800	Weak transcription	HSMM	muscle
29	chr14:24776000-24783800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr14:24776200-24777600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr14:24776200-24779400	Weak transcription	Aorta	Aorta
32	chr14:24776200-24786200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr14:24776400-24777800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr14:24776400-24777800	Genic enhancers	Colonic Mucosa	Colon
35	chr14:24776400-24778000	Genic enhancers	Primary monocytes fromperipheralblood	blood
36	chr14:24776400-24779400	Genic enhancers	Fetal Thymus	thymus
37	chr14:24776400-24785800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr14:24776600-24778600	Weak transcription	Pancreatic Islets	Pancreatic Islet
39	chr14:24776600-24779000	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr14:24776600-24779400	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr14:24776600-24779400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr14:24776600-24779600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr14:24776800-24777600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr14:24776800-24777800	Genic enhancers	GM12878-XiMat	blood
45	chr14:24776800-24778000	Genic enhancers	Primary T helper cells PMA-I stimulated	--
46	chr14:24776800-24778400	Genic enhancers	Spleen	Spleen
47	chr14:24776800-24778800	Weak transcription	Fetal Lung	lung
48	chr14:24776800-24779000	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr14:24776800-24779000	Weak transcription	Fetal Brain Female	brain
50	chr14:24776800-24779400	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood

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