Variant report

Variant	rs417357
Chromosome Location	chr19:45403119-45403120
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:45401621..45403188-chr19:45459313..45461150,2	K562	blood:
2	chr19:45402073..45403968-chr19:45456324..45458483,2	K562	blood:
3	chr19:45401532..45404734-chr19:45406083..45409846,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000104853	Chromatin interaction
ENSG00000130203	Chromatin interaction
ENSG00000267114	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs157583	1.00[ASN][1000 genomes]
rs157587	1.00[ASN][1000 genomes]
rs166907	1.00[ASN][1000 genomes]
rs205909	0.89[AFR][1000 genomes]
rs394819	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs434132	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs435380	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs439382	1.00[ASN][1000 genomes]
rs446037	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs490243	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs491153	1.00[AMR][1000 genomes];1.00[ASN][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	nsv912129	chr19:45379791-45448465	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv912130	chr19:45382034-45448465	Bivalent Enhancer Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv912131	chr19:45391582-45415640	Flanking Active TSS Genic enhancers Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv912132	chr19:45393473-45415640	Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv912133	chr19:45395619-45482884	Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
6	nsv912134	chr19:45395619-45528799	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 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	chr19:45395800-45407200	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr19:45396000-45404400	Strong transcription	Rectal Smooth Muscle	rectum
3	chr19:45396000-45406200	Strong transcription	HUES48 Cell Line	embryonic stem cell
4	chr19:45396000-45406200	Strong transcription	Ovary	ovary
5	chr19:45396000-45406400	Strong transcription	HUES6 Cell Line	embryonic stem cell
6	chr19:45396000-45406400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
7	chr19:45396000-45406400	Strong transcription	Fetal Thymus	thymus
8	chr19:45396000-45406400	Strong transcription	Rectal Mucosa Donor 29	rectum
9	chr19:45396000-45406600	Strong transcription	Primary B cells from peripheral blood	blood
10	chr19:45396000-45406800	Strong transcription	HUES64 Cell Line	embryonic stem cell
11	chr19:45396000-45406800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr19:45396000-45406800	Strong transcription	Fetal Intestine Large	intestine
13	chr19:45396000-45406800	Strong transcription	Sigmoid Colon	Sigmoid Colon
14	chr19:45396000-45407000	Weak transcription	Stomach Mucosa	stomach
15	chr19:45396000-45408600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr19:45396200-45404400	Strong transcription	Brain Angular Gyrus	brain
17	chr19:45396200-45404600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr19:45396200-45405800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr19:45396200-45406200	Strong transcription	Fetal Muscle Trunk	muscle
20	chr19:45396200-45406400	Strong transcription	H9 Cell Line	embryonic stem cell
21	chr19:45396200-45406400	Strong transcription	Primary T cells from cord blood	blood
22	chr19:45396200-45406400	Strong transcription	Brain Inferior Temporal Lobe	brain
23	chr19:45396200-45406400	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr19:45396200-45406400	Strong transcription	Esophagus	oesophagus
25	chr19:45396200-45406600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
26	chr19:45396200-45406600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr19:45396200-45406600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr19:45396200-45406600	Strong transcription	Brain Hippocampus Middle	brain
29	chr19:45396200-45406600	Strong transcription	Placenta	Placenta
30	chr19:45396200-45406800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr19:45396200-45406800	Strong transcription	Fetal Muscle Leg	muscle
32	chr19:45396200-45407000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr19:45396200-45407000	Strong transcription	Fetal Stomach	stomach
34	chr19:45396200-45407600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr19:45396400-45404800	Strong transcription	Colonic Mucosa	Colon
36	chr19:45396400-45406200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr19:45396400-45406400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr19:45396400-45406400	Strong transcription	Duodenum Mucosa	Duodenum
39	chr19:45396400-45406600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr19:45396400-45406800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr19:45396400-45406800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr19:45396400-45406800	Strong transcription	Cortex derived primary cultured neurospheres	brain
43	chr19:45396400-45407000	Strong transcription	Primary T cells fromperipheralblood	blood
44	chr19:45396600-45404200	Strong transcription	K562	blood
45	chr19:45396600-45406200	Strong transcription	NHEK	skin
46	chr19:45396600-45406400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr19:45396600-45406400	Strong transcription	Stomach Smooth Muscle	stomach
48	chr19:45396600-45406600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr19:45396600-45406600	Strong transcription	Brain Germinal Matrix	brain
50	chr19:45396600-45406600	Strong transcription	Duodenum Smooth Muscle	Duodenum

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