Variant report

Variant	rs58749284
Chromosome Location	chr19:18342593-18342594
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:18341696..18344028-chr19:18349913..18353399,3	MCF-7	breast:
2	chr19:18341889..18345577-chr19:18390952..18393616,3	K562	blood:
3	chr19:18313058..18316561-chr19:18341943..18344142,3	K562	blood:
4	chr19:18330343..18333323-chr19:18341854..18344260,2	MCF-7	breast:
5	chr19:18334911..18338218-chr19:18340999..18344328,5	MCF-7	breast:
6	chr19:18340431..18343253-chr19:18523946..18525951,2	K562	blood:
7	chr19:18340622..18343311-chr19:18373203..18375324,2	K562	blood:

Variant related genes	Relation type
ENSG00000105649	Chromatin interaction
ENSG00000267959	Chromatin interaction
ENSG00000130522	Chromatin interaction
ENSG00000268650	Chromatin interaction
ENSG00000105650	Chromatin interaction
ENSG00000130518	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10409185	1.00[EUR][1000 genomes]
rs10415054	1.00[EUR][1000 genomes]
rs10451485	1.00[EUR][1000 genomes]
rs11880673	1.00[EUR][1000 genomes]
rs11881620	1.00[EUR][1000 genomes]
rs17882031	1.00[EUR][1000 genomes]
rs28706490	1.00[EUR][1000 genomes]
rs28819668	1.00[EUR][1000 genomes]
rs431777	1.00[EUR][1000 genomes]
rs437698	1.00[EUR][1000 genomes]
rs57757608	1.00[EUR][1000 genomes]
rs6512246	1.00[EUR][1000 genomes]
rs7253479	1.00[EUR][1000 genomes]
rs7256004	1.00[EUR][1000 genomes]
rs73523060	1.00[EUR][1000 genomes]
rs73523064	1.00[EUR][1000 genomes]
rs73523067	1.00[EUR][1000 genomes]
rs73523088	1.00[EUR][1000 genomes]
rs73529387	1.00[EUR][1000 genomes]
rs8101797	1.00[EUR][1000 genomes]
rs8102661	1.00[EUR][1000 genomes]
rs8103073	1.00[EUR][1000 genomes]
rs8103429	1.00[EUR][1000 genomes]
rs8105314	1.00[EUR][1000 genomes]
rs8107049	1.00[EUR][1000 genomes]
rs8107327	1.00[EUR][1000 genomes]
rs8111135	1.00[EUR][1000 genomes]
rs845379	1.00[EUR][1000 genomes]
rs9749302	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1055932	chr19:17923918-18369944	Weak transcription Strong transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
2	nsv543923	chr19:17923918-18369944	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
3	nsv532614	chr19:18033043-18573963	Flanking Active TSS Enhancers Active TSS Genic enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	204 gene(s)	inside rSNPs	diseases
4	esv1837595	chr19:18085428-18393682	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	147 gene(s)	inside rSNPs	diseases
5	nsv833775	chr19:18213761-18390074	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
6	nsv911249	chr19:18224729-18375846	Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
7	nsv911250	chr19:18224729-18376522	Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
8	nsv911251	chr19:18224729-18422364	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
9	nsv911253	chr19:18240127-18418044	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
10	nsv916325	chr19:18244780-18534927	Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	167 gene(s)	inside rSNPs	diseases
11	nsv911260	chr19:18288069-18386798	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
12	nsv911264	chr19:18309365-18369644	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
13	nsv470131	chr19:18326222-18389135	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:18336200-18342600	Weak transcription	Right Atrium	heart
2	chr19:18340800-18342800	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr19:18340800-18343000	Enhancers	Skeletal Muscle Female	skeletal muscle
4	chr19:18340800-18343200	Enhancers	H1 Cell Line	embryonic stem cell
5	chr19:18340800-18345000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr19:18341400-18342600	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
7	chr19:18341400-18342600	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
8	chr19:18341400-18343000	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr19:18341600-18342600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
10	chr19:18341600-18343000	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr19:18341800-18342600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
12	chr19:18341800-18342600	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr19:18341800-18342600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr19:18341800-18342600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
15	chr19:18341800-18342600	Bivalent Enhancer	Stomach Smooth Muscle	stomach
16	chr19:18341800-18342800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr19:18341800-18343000	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr19:18341800-18343000	Bivalent Enhancer	Placenta	Placenta
19	chr19:18341800-18343200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr19:18342000-18342600	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
21	chr19:18342000-18342600	Enhancers	Spleen	Spleen
22	chr19:18342000-18342800	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
23	chr19:18342000-18343000	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr19:18342000-18343400	Enhancers	K562	blood
25	chr19:18342200-18342600	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr19:18342200-18342600	Bivalent Enhancer	Brain Dorsolateral Prefrontal Cortex	brain
27	chr19:18342200-18342600	Enhancers	Gastric	stomach
28	chr19:18342200-18343000	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr19:18342200-18343000	Bivalent Enhancer	Fetal Stomach	stomach
30	chr19:18342200-18344200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
31	chr19:18342400-18342600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr19:18342400-18342600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr19:18342400-18342600	Bivalent Enhancer	Duodenum Mucosa	Duodenum
34	chr19:18342400-18342600	Bivalent Enhancer	Fetal Thymus	thymus
35	chr19:18342400-18342600	Flanking Active TSS	A549	lung
36	chr19:18342400-18342600	Enhancers	GM12878-XiMat	blood
37	chr19:18342400-18343200	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr19:18342400-18343200	Weak transcription	Lung	lung
39	chr19:18342400-18343600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr19:18342400-18344000	Bivalent Enhancer	Primary B cells from cord blood	blood

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