Variant report

Variant	rs73043021
Chromosome Location	chr19:38836681-38836682
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	CEBPB	chr19:38836422-38836685	A549	lung:	n/a	chr19:38836530-38836541
2	POLR2A	chr19:38836585-38837230	PANC-1	pancreas:	n/a	n/a
3	CEBPB	chr19:38836460-38836703	HepG2	liver:	n/a	chr19:38836530-38836541

No.	Distal block	Cell Line	Cell type
1	chr19:38803963..38805579-chr19:38834586..38836775,2	K562	blood:
2	chr19:38826489..38830578-chr19:38835148..38838719,4	K562	blood:
3	chr19:38834987..38838242-chr19:38838656..38842905,5	MCF-7	breast:
4	chr19:38836592..38840441-chr19:38840696..38845039,4	K562	blood:
5	chr19:38825537..38827989-chr19:38835886..38838412,2	K562	blood:

Variant related genes	Relation type
CATSPERG	TF binding region
ENSG00000238838	Chromatin interaction
ENSG00000099338	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs3885340	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs61734615	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73037321	0.87[EUR][1000 genomes]
rs73037333	0.84[EUR][1000 genomes]
rs73037343	0.87[EUR][1000 genomes]
rs73037346	0.87[EUR][1000 genomes]
rs73041292	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73043012	1.00[EUR][1000 genomes]
rs73043013	1.00[EUR][1000 genomes]
rs73043014	1.00[EUR][1000 genomes]
rs73043015	1.00[EUR][1000 genomes]
rs73043019	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73043022	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73043027	1.00[EUR][1000 genomes]
rs73043028	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73043029	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73043030	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73043033	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73043098	0.81[EUR][1000 genomes]

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	nsv1063471	chr19:38734744-39148392	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	73 gene(s)	inside rSNPs	diseases
2	nsv833822	chr19:38760748-38945105	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases
3	nsv911658	chr19:38785318-39002140	Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:38828000-38838400	Weak transcription	HSMMtube	muscle
2	chr19:38828200-38836800	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr19:38828200-38837000	Weak transcription	Colon Smooth Muscle	Colon
4	chr19:38828200-38837400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr19:38828200-38838000	Weak transcription	Monocytes-CD14+_RO01746	blood
6	chr19:38828200-38838200	Weak transcription	Rectal Smooth Muscle	rectum
7	chr19:38828200-38838400	Weak transcription	Colonic Mucosa	Colon
8	chr19:38828200-38838400	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr19:38828200-38839000	Weak transcription	Brain Anterior Caudate	brain
10	chr19:38828200-38840400	Weak transcription	Left Ventricle	heart
11	chr19:38828200-38841400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr19:38828200-38842000	Weak transcription	Brain Angular Gyrus	brain
13	chr19:38828200-38842600	Weak transcription	Esophagus	oesophagus
14	chr19:38828200-38844800	Weak transcription	Brain Substantia Nigra	brain
15	chr19:38828200-38852000	Weak transcription	Right Atrium	heart
16	chr19:38828400-38836800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr19:38828400-38837200	Weak transcription	Primary B cells from peripheral blood	blood
18	chr19:38828400-38837800	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr19:38828400-38838200	Weak transcription	Adipose Nuclei	Adipose
20	chr19:38828400-38839200	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr19:38828400-38839600	Weak transcription	Primary T cells from cord blood	blood
22	chr19:38828400-38839800	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr19:38828400-38839800	Weak transcription	Right Ventricle	heart
24	chr19:38828400-38840000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr19:38828600-38838800	Weak transcription	Primary B cells from cord blood	blood
26	chr19:38828600-38839000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr19:38828600-38839600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr19:38828800-38837000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr19:38829000-38838600	Weak transcription	Primary T helper cells fromperipheralblood	blood
30	chr19:38829400-38839800	Weak transcription	Primary T cells fromperipheralblood	blood
31	chr19:38829600-38839400	Weak transcription	Thymus	Thymus
32	chr19:38830200-38844800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr19:38830400-38837800	Weak transcription	Fetal Intestine Large	intestine
34	chr19:38831600-38838200	Strong transcription	Primary neutrophils fromperipheralblood	blood
35	chr19:38832200-38838200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr19:38832200-38840400	Weak transcription	Stomach Smooth Muscle	stomach
37	chr19:38833200-38837800	Strong transcription	Fetal Intestine Small	intestine
38	chr19:38833200-38838200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
39	chr19:38833400-38836800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr19:38833800-38837800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr19:38833800-38838000	Weak transcription	NHEK	skin
42	chr19:38833800-38840400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr19:38834200-38845000	Weak transcription	Spleen	Spleen
44	chr19:38835000-38837600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr19:38835000-38842600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr19:38835200-38836800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr19:38835200-38837200	Weak transcription	Gastric	stomach
48	chr19:38835200-38837600	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr19:38835200-38838800	Weak transcription	Lung	lung
50	chr19:38835200-38839400	Weak transcription	Rectal Mucosa Donor 29	rectum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links