Variant report

Variant	rs2914376
Chromosome Location	chr19:53748809-53748810
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	MAFK	chr19:53748605-53748879	HepG2	liver:	n/a	n/a
2	MAFF	chr19:53748602-53748832	HepG2	liver:	n/a	n/a
3	MAFK	chr19:53748570-53748886	HepG2	liver:	n/a	n/a
4	MAFK	chr19:53748603-53748868	IMR90	lung:	n/a	n/a

Variant related genes	Relation type
ZNF677	TF binding region

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10401578	0.94[CHB][hapmap];0.88[ASN][1000 genomes]
rs10404048	0.87[CHB][hapmap]
rs10425196	0.85[ASN][1000 genomes]
rs10775558	0.87[CHB][hapmap];0.82[JPT][hapmap]
rs10853859	0.88[CHB][hapmap];0.83[JPT][hapmap]
rs11084227	0.94[CHB][hapmap];0.85[ASN][1000 genomes]
rs11084228	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1129002	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11666631	0.92[ASN][1000 genomes]
rs12972588	0.89[ASN][1000 genomes]
rs12982260	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12984188	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12984473	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12985503	0.88[ASN][1000 genomes]
rs17272966	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28411117	0.97[ASN][1000 genomes]
rs2865241	0.93[ASN][1000 genomes]
rs28734122	0.85[ASN][1000 genomes]
rs2914371	0.91[CEU][hapmap];1.00[CHB][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2914372	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2914377	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2914378	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2914381	0.87[CHB][hapmap]
rs2914383	0.95[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2914384	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2965221	0.87[CHB][hapmap]
rs2965222	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2965223	0.87[CHB][hapmap]
rs2965224	0.87[CHB][hapmap]
rs2965230	0.86[CHB][hapmap]
rs2965231	0.87[CHB][hapmap]
rs2965236	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2965237	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2965238	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2965240	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2965242	0.95[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2965243	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2965244	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3097248	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3111319	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36114232	0.85[ASN][1000 genomes]
rs4801965	0.87[CHB][hapmap]
rs4801968	0.81[CHB][hapmap];0.83[JPT][hapmap]
rs4801970	0.88[CHB][hapmap];0.83[JPT][hapmap]
rs4803069	0.85[ASN][1000 genomes]
rs4803071	0.98[ASN][1000 genomes]
rs4803080	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55779655	0.98[ASN][1000 genomes]
rs62117791	0.97[ASN][1000 genomes]
rs71363315	0.82[ASN][1000 genomes]
rs7247982	0.87[CHB][hapmap]
rs8113436	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9788	0.87[CHB][hapmap]

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	nsv1065143	chr19:53507142-53853363	Bivalent/Poised TSS ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
2	nsv544063	chr19:53507142-53853363	ZNF genes & repeats Strong transcription Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
3	nsv1058019	chr19:53507142-53904508	ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
4	nsv544064	chr19:53507142-53904508	Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
5	nsv912342	chr19:53581151-54010759	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
6	nsv1063630	chr19:53591444-54419183	ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	282 gene(s)	inside rSNPs	diseases
7	nsv1055378	chr19:53603268-53951855	Flanking Bivalent TSS/Enh Enhancers Active TSS Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
8	nsv544065	chr19:53603268-53951855	Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
9	esv2830362	chr19:53681132-53933147	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
10	nsv1064604	chr19:53730688-53751243	ZNF genes & repeats Weak transcription Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	nsv580079	chr19:53732590-53756120	ZNF genes & repeats Weak transcription Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
12	nsv1055236	chr19:53739483-53778339	Active TSS Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
13	nsv1059899	chr19:53744560-53768337	Active TSS ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
14	nsv1064070	chr19:53744560-53769702	ZNF genes & repeats Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:53733600-53755200	ZNF genes & repeats	Adipose Nuclei	Adipose
2	chr19:53733600-53755800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
3	chr19:53735800-53756200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr19:53736200-53749000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
5	chr19:53737400-53757600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr19:53738600-53749000	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr19:53738800-53756600	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
8	chr19:53739400-53755200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr19:53739600-53756200	ZNF genes & repeats	Fetal Brain Female	brain
10	chr19:53740000-53749800	ZNF genes & repeats	Duodenum Mucosa	Duodenum
11	chr19:53740000-53750600	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr19:53740000-53756400	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr19:53740000-53756600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
14	chr19:53740000-53756800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr19:53740200-53749000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
16	chr19:53740200-53749000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
17	chr19:53740200-53749000	ZNF genes & repeats	Colon Smooth Muscle	Colon
18	chr19:53740200-53750600	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
19	chr19:53740200-53752600	ZNF genes & repeats	Brain Hippocampus Middle	brain
20	chr19:53740200-53756800	ZNF genes & repeats	Fetal Lung	lung
21	chr19:53740200-53757600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr19:53740400-53749000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
23	chr19:53740400-53749000	ZNF genes & repeats	Primary T cells from cord blood	blood
24	chr19:53740400-53749000	ZNF genes & repeats	Brain Cingulate Gyrus	brain
25	chr19:53740400-53749000	ZNF genes & repeats	Dnd41	blood
26	chr19:53740400-53756800	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
27	chr19:53740600-53750600	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
28	chr19:53743000-53749000	ZNF genes & repeats	Brain Angular Gyrus	brain
29	chr19:53743000-53749200	ZNF genes & repeats	Ovary	ovary
30	chr19:53743000-53750800	ZNF genes & repeats	Fetal Intestine Large	intestine
31	chr19:53743000-53756600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
32	chr19:53744800-53750600	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
33	chr19:53745200-53756600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr19:53747200-53749600	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr19:53747200-53752400	Weak transcription	Rectal Smooth Muscle	rectum
36	chr19:53747400-53749800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr19:53747400-53753600	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr19:53747400-53754600	Weak transcription	HSMMtube	muscle
39	chr19:53747600-53749600	Weak transcription	Fetal Brain Male	brain
40	chr19:53747600-53750200	Weak transcription	NHLF	lung
41	chr19:53747600-53750400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr19:53747600-53753400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr19:53747600-53753400	Weak transcription	Pancreas	Pancrea
44	chr19:53747600-53753600	Weak transcription	Thymus	Thymus
45	chr19:53747600-53754400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr19:53747800-53750400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr19:53747800-53750400	Weak transcription	HSMM	muscle
48	chr19:53747800-53753400	Weak transcription	Gastric	stomach
49	chr19:53747800-53753600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr19:53747800-53753600	Weak transcription	Right Ventricle	heart

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