Variant report

Variant	rs926052
Chromosome Location	chr19:44952236-44952237
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:44644669..44647100-chr19:44951741..44953337,2	K562	blood:
2	chr19:44699013..44701606-chr19:44950381..44952368,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000263002	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11665852	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1369097	0.90[CHB][hapmap];0.81[JPT][hapmap];0.87[ASN][1000 genomes]
rs1560915	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2196188	0.90[ASN][1000 genomes]
rs2356889	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2571173	0.95[CHB][hapmap];0.91[JPT][hapmap];0.94[ASN][1000 genomes]
rs2722681	0.85[ASN][1000 genomes]
rs2722694	0.90[ASN][1000 genomes]
rs2722695	0.95[CHB][hapmap];0.91[JPT][hapmap];0.94[ASN][1000 genomes]
rs2734450	0.89[CHB][hapmap];0.86[JPT][hapmap];0.90[ASN][1000 genomes]
rs2734451	0.84[CHB][hapmap];0.86[JPT][hapmap];0.90[ASN][1000 genomes]
rs2734452	0.90[ASN][1000 genomes]
rs2734454	0.89[CHB][hapmap];0.86[JPT][hapmap];0.90[ASN][1000 genomes]
rs2734455	0.90[ASN][1000 genomes]
rs2734456	0.90[ASN][1000 genomes]
rs2734458	0.90[ASN][1000 genomes]
rs2734462	0.90[ASN][1000 genomes]
rs7249536	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7249704	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs926054	0.85[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv912112	chr19:44853707-45011727	Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv912114	chr19:44858776-45002563	ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv1061350	chr19:44869075-45035469	Active TSS ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Enhancers 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	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44932000-44953200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
2	chr19:44946400-44953000	ZNF genes & repeats	Aorta	Aorta
3	chr19:44948200-44959800	ZNF genes & repeats	Liver	Liver
4	chr19:44948600-44953200	ZNF genes & repeats	Primary B cells from peripheral blood	blood
5	chr19:44949600-44954200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
6	chr19:44951200-44953200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr19:44951400-44953200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr19:44951400-44953400	Active TSS	NHDF-Ad	bronchial
9	chr19:44951600-44952400	Flanking Active TSS	Brain Anterior Caudate	brain
10	chr19:44951600-44953000	Active TSS	HUES48 Cell Line	embryonic stem cell
11	chr19:44951600-44953000	Active TSS	iPS-15b Cell Line	embryonic stem cell
12	chr19:44951600-44953000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr19:44951600-44953000	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood
14	chr19:44951600-44953000	Active TSS	Brain Angular Gyrus	brain
15	chr19:44951600-44953000	ZNF genes & repeats	HSMM	muscle
16	chr19:44951600-44953200	Active TSS	ES-I3 Cell Line	embryonic stem cell
17	chr19:44951600-44953200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr19:44951800-44952400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr19:44951800-44952400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr19:44951800-44952400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr19:44951800-44952400	Flanking Active TSS	Adipose Nuclei	Adipose
22	chr19:44951800-44952400	Flanking Active TSS	Brain Germinal Matrix	brain
23	chr19:44951800-44952400	Flanking Active TSS	Stomach Smooth Muscle	stomach
24	chr19:44951800-44952400	Transcr. at gene 5' and 3'	A549	lung
25	chr19:44951800-44952600	Flanking Active TSS	Primary hematopoietic stem cells	blood
26	chr19:44951800-44952600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
27	chr19:44951800-44952600	Flanking Active TSS	HMEC	breast
28	chr19:44951800-44952600	Flanking Active TSS	HUVEC	blood vessel
29	chr19:44951800-44952800	Active TSS	HUES64 Cell Line	embryonic stem cell
30	chr19:44951800-44952800	Active TSS	iPS-18 Cell Line	embryonic stem cell
31	chr19:44951800-44952800	ZNF genes & repeats	Placenta	Placenta
32	chr19:44951800-44953000	Active TSS	H1 Cell Line	embryonic stem cell
33	chr19:44951800-44953000	Active TSS	H9 Cell Line	embryonic stem cell
34	chr19:44951800-44953000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
35	chr19:44951800-44953000	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
36	chr19:44951800-44953000	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
37	chr19:44951800-44953000	Active TSS	Colon Smooth Muscle	Colon
38	chr19:44951800-44953000	Active TSS	Fetal Intestine Large	intestine
39	chr19:44951800-44953000	Active TSS	Left Ventricle	heart
40	chr19:44951800-44953000	Active TSS	Psoas Muscle	Psoas
41	chr19:44951800-44953000	ZNF genes & repeats	Thymus	Thymus
42	chr19:44951800-44953000	Active TSS	HSMMtube	muscle
43	chr19:44951800-44953000	Active TSS	NH-A	brain
44	chr19:44951800-44953200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr19:44951800-44953200	Flanking Active TSS	Primary T cells from cord blood	blood
46	chr19:44951800-44953200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
47	chr19:44951800-44953200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr19:44951800-44953200	Active TSS	Brain Inferior Temporal Lobe	brain
49	chr19:44951800-44953200	Active TSS	Duodenum Mucosa	Duodenum
50	chr19:44951800-44953200	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links