Variant report

Variant	rs7257019
Chromosome Location	chr19:56896872-56896873
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	chr19:56895475..56897823-chr19:56903707..56905886,2	K562	blood:
2	chr19:56888312..56892282-chr19:56896043..56899237,5	K562	blood:

Variant related genes	Relation type
ENSG00000267454	Chromatin interaction
ENSG00000018869	Chromatin interaction
ENSG00000267459	Chromatin interaction
ENSG00000267776	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10410099	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2288859	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2869164	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4355036	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs55781327	0.92[EUR][1000 genomes]
rs6509993	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs740868	0.98[ASN][1000 genomes]
rs8101813	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8106816	0.81[AMR][1000 genomes];0.92[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:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:56881200-56904000	ZNF genes & repeats	Liver	Liver
2	chr19:56889200-56897400	Weak transcription	Gastric	stomach
3	chr19:56889200-56901200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr19:56889200-56904400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr19:56889400-56904000	Weak transcription	Fetal Heart	heart
6	chr19:56889400-56904000	Weak transcription	K562	blood
7	chr19:56890000-56900200	Weak transcription	Right Ventricle	heart
8	chr19:56890200-56903600	Weak transcription	Fetal Brain Male	brain
9	chr19:56890600-56900200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr19:56890600-56900400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr19:56890600-56904000	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr19:56893600-56899800	Weak transcription	Placenta	Placenta
13	chr19:56893600-56900000	Weak transcription	Pancreas	Pancrea
14	chr19:56894200-56897600	ZNF genes & repeats	Adipose Nuclei	Adipose
15	chr19:56894200-56899000	Weak transcription	Fetal Intestine Large	intestine
16	chr19:56894200-56900800	ZNF genes & repeats	Primary T cells from cord blood	blood
17	chr19:56894200-56903800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr19:56894400-56897000	ZNF genes & repeats	NHEK	skin
19	chr19:56894400-56898200	ZNF genes & repeats	Ovary	ovary
20	chr19:56894400-56898400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr19:56894400-56899000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
22	chr19:56894600-56899800	Weak transcription	Rectal Smooth Muscle	rectum
23	chr19:56894800-56897800	Strong transcription	Brain Cingulate Gyrus	brain
24	chr19:56894800-56898000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr19:56894800-56900000	Weak transcription	Fetal Stomach	stomach
26	chr19:56894800-56902000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
27	chr19:56894800-56902000	Strong transcription	Brain Hippocampus Middle	brain
28	chr19:56894800-56903400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr19:56895000-56897000	Strong transcription	Cortex derived primary cultured neurospheres	brain
30	chr19:56895000-56897800	Strong transcription	Brain Germinal Matrix	brain
31	chr19:56895000-56898000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr19:56895000-56898600	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
33	chr19:56895200-56898600	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr19:56895200-56899800	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
35	chr19:56895200-56900000	ZNF genes & repeats	Psoas Muscle	Psoas
36	chr19:56895200-56903200	ZNF genes & repeats	Primary B cells from cord blood	blood
37	chr19:56895200-56903400	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr19:56895400-56897800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr19:56895400-56898000	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
40	chr19:56895400-56901200	Weak transcription	Fetal Thymus	thymus
41	chr19:56895400-56902200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr19:56895400-56902600	Strong transcription	Skeletal Muscle Female	skeletal muscle
43	chr19:56895600-56898200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr19:56895600-56898400	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
45	chr19:56895600-56898400	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
46	chr19:56895800-56900200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr19:56895800-56902000	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr19:56896000-56897000	Weak transcription	Fetal Muscle Leg	muscle
49	chr19:56896000-56898400	Strong transcription	Left Ventricle	heart
50	chr19:56896000-56898600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links