Variant report

Variant	rs8101813
Chromosome Location	chr19:56898342-56898343
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	chr19:56897603-56898567	K562	blood:	n/a	n/a
2	MAFF	chr19:56898215-56898377	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:56888312..56892282-chr19:56896043..56899237,5	K562	blood:
2	chr19:56896992..56902951-chr19:56903012..56907037,12	K562	blood:

Variant related genes	Relation type
ENSG00000267192	TF binding region
ENSG00000267459	Chromatin interaction
ENSG00000018869	Chromatin interaction
ENSG00000267454	Chromatin interaction
ENSG00000267776	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10410099	1.00[CEU][hapmap];0.84[CHB][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2288859	1.00[CEU][hapmap];0.84[CHB][hapmap];0.95[JPT][hapmap];0.83[TSI][hapmap];0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2869164	1.00[CEU][hapmap];0.84[CHB][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4355036	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs55781327	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6509992	0.91[ASW][hapmap];0.87[CHD][hapmap]
rs6509993	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7257019	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs740868	1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs8106816	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][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	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
2	nsv949121	chr19:56754719-57591038	ZNF genes & repeats Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
3	nsv1062341	chr19:56794070-57273332	Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
4	nsv544094	chr19:56794070-57273332	Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
5	nsv1056713	chr19:56799151-57265682	ZNF genes & repeats Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
6	nsv544095	chr19:56799151-57265682	Strong transcription ZNF genes & repeats Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:56881200-56904000	ZNF genes & repeats	Liver	Liver
2	chr19:56889200-56901200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr19:56889200-56904400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr19:56889400-56904000	Weak transcription	Fetal Heart	heart
5	chr19:56889400-56904000	Weak transcription	K562	blood
6	chr19:56890000-56900200	Weak transcription	Right Ventricle	heart
7	chr19:56890200-56903600	Weak transcription	Fetal Brain Male	brain
8	chr19:56890600-56900200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr19:56890600-56900400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr19:56890600-56904000	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr19:56893600-56899800	Weak transcription	Placenta	Placenta
12	chr19:56893600-56900000	Weak transcription	Pancreas	Pancrea
13	chr19:56894200-56899000	Weak transcription	Fetal Intestine Large	intestine
14	chr19:56894200-56900800	ZNF genes & repeats	Primary T cells from cord blood	blood
15	chr19:56894200-56903800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr19:56894400-56898400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr19:56894400-56899000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
18	chr19:56894600-56899800	Weak transcription	Rectal Smooth Muscle	rectum
19	chr19:56894800-56900000	Weak transcription	Fetal Stomach	stomach
20	chr19:56894800-56902000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
21	chr19:56894800-56902000	Strong transcription	Brain Hippocampus Middle	brain
22	chr19:56894800-56903400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr19:56895000-56898600	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
24	chr19:56895200-56898600	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr19:56895200-56899800	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
26	chr19:56895200-56900000	ZNF genes & repeats	Psoas Muscle	Psoas
27	chr19:56895200-56903200	ZNF genes & repeats	Primary B cells from cord blood	blood
28	chr19:56895200-56903400	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr19:56895400-56901200	Weak transcription	Fetal Thymus	thymus
30	chr19:56895400-56902200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr19:56895400-56902600	Strong transcription	Skeletal Muscle Female	skeletal muscle
32	chr19:56895600-56898400	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
33	chr19:56895600-56898400	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
34	chr19:56895800-56900200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr19:56895800-56902000	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr19:56896000-56898400	Strong transcription	Left Ventricle	heart
37	chr19:56896000-56898600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr19:56896000-56899200	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr19:56896000-56899200	Strong transcription	Fetal Lung	lung
40	chr19:56896000-56900000	Weak transcription	Brain Angular Gyrus	brain
41	chr19:56896000-56901800	Strong transcription	Brain Substantia Nigra	brain
42	chr19:56896000-56904400	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr19:56896200-56901200	Weak transcription	Colon Smooth Muscle	Colon
44	chr19:56896400-56899200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr19:56896400-56899800	Weak transcription	HSMMtube	muscle
46	chr19:56896400-56901200	Weak transcription	Colonic Mucosa	Colon
47	chr19:56896600-56899800	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr19:56896600-56900200	Weak transcription	Thymus	Thymus
49	chr19:56896600-56901400	Weak transcription	Fetal Brain Female	brain
50	chr19:56896600-56902000	Strong transcription	Stomach Smooth Muscle	stomach

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