Variant report

Variant	rs58841981
Chromosome Location	chr19:19004002-19004003
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:18993971..18995818-chr19:19002002..19004834,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000223802	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10412694	0.83[EUR][1000 genomes]
rs10416469	0.83[EUR][1000 genomes]
rs10416612	0.83[EUR][1000 genomes]
rs34677724	0.83[EUR][1000 genomes]
rs55824320	0.83[EUR][1000 genomes]
rs56165767	0.93[EUR][1000 genomes]
rs56368502	0.83[EUR][1000 genomes]
rs61077411	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv911293	chr19:18872917-19050957	Flanking Active TSS Genic enhancers Strong transcription Active TSS Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv911294	chr19:18872917-19093619	Active TSS Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv833777	chr19:18875936-19031076	Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	nsv911297	chr19:18928480-19077385	Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
5	nsv911298	chr19:18928480-19093619	Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
6	nsv911300	chr19:18944025-19093619	Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
7	nsv470132	chr19:18964442-19054720	Active TSS Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
8	nsv911301	chr19:18994638-19077385	Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
9	nsv911302	chr19:18995201-19088981	Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:18980400-19004200	Strong transcription	Cortex derived primary cultured neurospheres	brain
2	chr19:18981800-19005800	Weak transcription	Right Atrium	heart
3	chr19:18984000-19004200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr19:18985600-19004400	Weak transcription	Fetal Brain Male	brain
5	chr19:18987200-19004200	Weak transcription	HSMMtube	muscle
6	chr19:18988000-19005400	Weak transcription	A549	lung
7	chr19:18988200-19004800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr19:18991400-19004400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr19:18994400-19004800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr19:18994600-19004400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr19:18994800-19005400	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr19:18995000-19004800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr19:18995000-19005200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr19:18995200-19005200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr19:18997800-19004200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr19:18997800-19005200	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr19:18998200-19004800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr19:18998200-19005200	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr19:18998200-19005400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr19:18998400-19005200	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr19:18999800-19004200	Strong transcription	Brain Germinal Matrix	brain
22	chr19:19000200-19004200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr19:19000800-19004200	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr19:19001400-19004400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr19:19001800-19004400	Genic enhancers	Fetal Muscle Leg	muscle
26	chr19:19002000-19005200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr19:19002400-19004200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr19:19002400-19004200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr19:19002600-19004200	Strong transcription	Brain Inferior Temporal Lobe	brain
30	chr19:19003400-19004200	Genic enhancers	Fetal Muscle Trunk	muscle
31	chr19:19003600-19004200	Weak transcription	Fetal Brain Female	brain
32	chr19:19003800-19004600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr19:19004000-19004200	Genic enhancers	Brain Anterior Caudate	brain
34	chr19:19004000-19004200	Genic enhancers	Brain Cingulate Gyrus	brain
35	chr19:19004000-19004200	Genic enhancers	Brain Substantia Nigra	brain
36	chr19:19004000-19004200	Genic enhancers	Fetal Stomach	stomach
37	chr19:19004000-19004200	Genic enhancers	Skeletal Muscle Male	skeletal muscle
38	chr19:19004000-19004400	Transcr. at gene 5' and 3'	Brain Hippocampus Middle	brain
39	chr19:19004000-19004600	Genic enhancers	Brain Angular Gyrus	brain
40	chr19:19004000-19004600	Enhancers	Psoas Muscle	Psoas
41	chr19:19004000-19004600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle

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