Variant report

Variant	rs1076496
Chromosome Location	chr14:78176851-78176852
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	POLR2A	chr14:78176831-78177174	HepG2	liver:	n/a	n/a
2	CEBPB	chr14:78176620-78176973	HepG2	liver:	n/a	chr14:78176792-78176803
3	HNF4A	chr14:78176659-78177082	HepG2	liver:	n/a	chr14:78176897-78176912 chr14:78176896-78176911 chr14:78176897-78176912 chr14:78176897-78176912
4	SREBP1	chr14:78173414-78177367	GM12878	blood:	n/a	n/a
5	POLR2A	chr14:78176443-78177182	HepG2	liver:	n/a	n/a
6	ARID3A	chr14:78176641-78177073	HepG2	liver:	n/a	n/a
7	HNF4A	chr14:78176774-78177082	HepG2	liver:	n/a	chr14:78176897-78176912 chr14:78176896-78176911 chr14:78176897-78176912 chr14:78176897-78176912
8	POLR2A	chr14:78176815-78177097	GM12878	blood:	n/a	n/a
9	FOXA2	chr14:78176741-78177061	HepG2	liver:	n/a	n/a
10	POLR2A	chr14:78176630-78177159	HepG2	liver:	n/a	n/a
11	POLR2A	chr14:78176843-78177113	GM12891	blood:	n/a	n/a
12	POLR2A	chr14:78176564-78177219	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:77934304..77936307-chr14:78175272..78177718,2	K562	blood:
2	chr14:77922378..77925268-chr14:78174504..78177181,3	MCF-7	breast:
3	chr14:77934807..77937271-chr14:78175752..78177718,2	K562	blood:
4	chr14:78174606..78176919-chr14:78226054..78227853,2	MCF-7	breast:

Variant related genes	Relation type
ALKBH1	TF binding region
SLIRP	TF binding region
ENSG00000197734	Chromatin interaction
ENSG00000100591	Chromatin interaction
ENSG00000100603	Chromatin interaction
ENSG00000151445	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs1008989	0.91[CHB][hapmap]
rs12432030	0.83[ASN][1000 genomes]
rs12587155	1.00[CHB][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs12587584	0.94[ASN][1000 genomes]
rs12587825	0.97[ASN][1000 genomes]
rs12880300	1.00[CHB][hapmap];0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs12880840	0.81[ASN][1000 genomes]
rs12881898	0.91[ASN][1000 genomes]
rs12886631	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs12889788	0.87[CHB][hapmap]
rs12891621	0.88[ASN][1000 genomes]
rs12892669	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs2267755	1.00[CHB][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs2267757	0.94[ASN][1000 genomes]
rs2270443	1.00[ASN][1000 genomes]
rs2299931	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs35261431	0.90[ASN][1000 genomes]
rs35657726	0.94[ASN][1000 genomes]
rs4540996	0.80[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs4903644	0.81[ASN][1000 genomes]
rs67408612	0.95[ASN][1000 genomes]
rs7145979	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs72688831	0.81[ASN][1000 genomes]
rs8003389	1.00[CHB][hapmap];0.91[JPT][hapmap];0.94[ASN][1000 genomes]
rs8003715	0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758362	chr14:78074180-78262572	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	esv2759998	chr14:78074180-78262572	Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	esv2757575	chr14:78104897-78212462	Strong transcription Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	esv34940	chr14:78104897-78222798	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
5	nsv521287	chr14:78108003-78211225	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
6	nsv520021	chr14:78152921-78208294	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 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	chr14:78175200-78177600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr14:78175400-78177000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr14:78175400-78177000	Enhancers	Sigmoid Colon	Sigmoid Colon
4	chr14:78175400-78177400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr14:78175400-78177600	Weak transcription	Esophagus	oesophagus
6	chr14:78175400-78177600	Weak transcription	Left Ventricle	heart
7	chr14:78175400-78180400	Weak transcription	Gastric	stomach
8	chr14:78175600-78177600	Weak transcription	Primary neutrophils fromperipheralblood	blood
9	chr14:78175600-78180400	Weak transcription	Aorta	Aorta
10	chr14:78175600-78182200	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr14:78175800-78177000	Transcr. at gene 5' and 3'	HUES64 Cell Line	embryonic stem cell
12	chr14:78175800-78177600	Weak transcription	Fetal Stomach	stomach
13	chr14:78175800-78177600	Weak transcription	Pancreas	Pancrea
14	chr14:78175800-78177800	Weak transcription	Colonic Mucosa	Colon
15	chr14:78175800-78178000	Weak transcription	Right Ventricle	heart
16	chr14:78175800-78179000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr14:78176000-78177000	Genic enhancers	Skeletal Muscle Female	skeletal muscle
18	chr14:78176000-78178000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr14:78176000-78179800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr14:78176200-78177000	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr14:78176200-78177000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr14:78176200-78177000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr14:78176200-78177000	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr14:78176200-78177000	Genic enhancers	HMEC	breast
25	chr14:78176200-78178000	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr14:78176200-78179800	Strong transcription	Primary hematopoietic stem cells	blood
27	chr14:78176200-78185400	Weak transcription	Fetal Heart	heart
28	chr14:78176200-78206000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr14:78176200-78208400	Strong transcription	Primary T cells fromperipheralblood	blood
30	chr14:78176200-78224000	Strong transcription	Primary monocytes fromperipheralblood	blood
31	chr14:78176200-78225400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr14:78176400-78177000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr14:78176400-78177000	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
34	chr14:78176400-78177000	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr14:78176400-78177000	Weak transcription	Rectal Smooth Muscle	rectum
36	chr14:78176400-78177000	Genic enhancers	Small Intestine	intestine
37	chr14:78176400-78177000	Enhancers	Stomach Mucosa	stomach
38	chr14:78176400-78177000	Genic enhancers	Hela-S3	cervix
39	chr14:78176400-78177200	Transcr. at gene 5' and 3'	Dnd41	blood
40	chr14:78176400-78177200	Genic enhancers	K562	blood
41	chr14:78176400-78177800	Weak transcription	Fetal Kidney	kidney
42	chr14:78176400-78206200	Strong transcription	Fetal Thymus	thymus
43	chr14:78176400-78223400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
44	chr14:78176400-78224200	Strong transcription	Monocytes-CD14+_RO01746	blood
45	chr14:78176600-78177000	Genic enhancers	HUES48 Cell Line	embryonic stem cell
46	chr14:78176600-78177000	Transcr. at gene 5' and 3'	iPS-15b Cell Line	embryonic stem cell
47	chr14:78176600-78177000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr14:78176600-78177000	Transcr. at gene 5' and 3'	Duodenum Mucosa	Duodenum
49	chr14:78176600-78177000	Genic enhancers	Fetal Intestine Large	intestine
50	chr14:78176600-78177000	Flanking Active TSS	HepG2	liver

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