Variant report

Variant	rs274176
Chromosome Location	chr19:56661904-56661905
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:56651213..56656229-chr19:56659806..56661954,6	K562	blood:
2	chr19:56657267..56658891-chr19:56660512..56663390,2	K562	blood:

Variant related genes	Relation type
ENSG00000167685	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs2637084	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2637085	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs274142	0.94[EUR][1000 genomes]
rs274148	0.81[ASN][1000 genomes]
rs274149	0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs274150	0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs274153	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs274178	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs274179	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs274184	0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs274185	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs502722	0.91[ASN][1000 genomes]
rs679557	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1056598	chr19:56331762-56703428	Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases
2	nsv1064371	chr19:56418215-56842450	ZNF genes & repeats Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases
3	nsv1057316	chr19:56418215-56849458	Strong transcription Enhancers ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases
4	nsv580354	chr19:56505685-56723492	Weak transcription Genic enhancers Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
5	nsv523651	chr19:56537528-56707048	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
6	nsv1057820	chr19:56555942-56720262	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
7	nsv528998	chr19:56578238-56707048	Active TSS Genic enhancers Weak transcription Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
8	nsv517365	chr19:56592286-56674548	Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
9	nsv912513	chr19:56592286-56685463	Flanking Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
10	nsv521744	chr19:56592286-56686953	Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
11	nsv912516	chr19:56601298-56981382	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	93 gene(s)	inside rSNPs	diseases
12	nsv528361	chr19:56638845-56688570	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:56653800-56664200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr19:56653800-56664200	Weak transcription	HUVEC	blood vessel
3	chr19:56653800-56667200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr19:56653800-56669200	Weak transcription	HSMM	muscle
5	chr19:56653800-56669400	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr19:56653800-56673000	Weak transcription	Hela-S3	cervix
7	chr19:56653800-56674000	Weak transcription	Fetal Kidney	kidney
8	chr19:56654000-56662000	Strong transcription	Fetal Stomach	stomach
9	chr19:56654000-56681600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr19:56654200-56663200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr19:56654200-56674000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr19:56654400-56668400	Weak transcription	HMEC	breast
13	chr19:56654400-56671200	Weak transcription	Small Intestine	intestine
14	chr19:56655200-56672200	Weak transcription	NHDF-Ad	bronchial
15	chr19:56656400-56664800	Weak transcription	K562	blood
16	chr19:56656400-56667400	Weak transcription	Stomach Mucosa	stomach
17	chr19:56656400-56672200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr19:56656600-56662000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr19:56656600-56662000	Strong transcription	Dnd41	blood
20	chr19:56657000-56662000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr19:56657000-56662000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr19:56657000-56662000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr19:56657000-56662000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr19:56657000-56662000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
25	chr19:56657000-56662000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr19:56657000-56662000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr19:56657000-56662000	Strong transcription	Duodenum Mucosa	Duodenum
28	chr19:56657000-56662000	Strong transcription	Fetal Lung	lung
29	chr19:56657200-56662000	Strong transcription	Fetal Thymus	thymus
30	chr19:56657200-56664000	Weak transcription	Primary hematopoietic stem cells	blood
31	chr19:56657400-56662000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr19:56657400-56663400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
33	chr19:56657600-56662000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr19:56657600-56662000	Strong transcription	Fetal Intestine Large	intestine
35	chr19:56657600-56662000	Strong transcription	Fetal Intestine Small	intestine
36	chr19:56657800-56662000	Strong transcription	HepG2	liver
37	chr19:56658000-56662000	Strong transcription	Brain Anterior Caudate	brain
38	chr19:56658200-56662000	Strong transcription	Sigmoid Colon	Sigmoid Colon
39	chr19:56658400-56662000	Strong transcription	Primary T helper cells PMA-I stimulated	--
40	chr19:56658400-56662000	Strong transcription	Adipose Nuclei	Adipose
41	chr19:56658400-56662000	Strong transcription	Brain Inferior Temporal Lobe	brain
42	chr19:56658600-56662000	Strong transcription	Primary T cells fromperipheralblood	blood
43	chr19:56658600-56662000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr19:56658800-56662000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr19:56659000-56662000	Strong transcription	Primary T cells from cord blood	blood
46	chr19:56659000-56662200	Genic enhancers	Pancreas	Pancrea
47	chr19:56659200-56662000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr19:56659200-56662000	Strong transcription	Ovary	ovary
49	chr19:56659200-56673000	Weak transcription	Primary monocytes fromperipheralblood	blood
50	chr19:56659400-56664600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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