Variant report

Variant	rs28375830
Chromosome Location	chr18:7602578-7602579
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	chr18:7601321..7603533-chr18:7605983..7608690,2	K562	blood:

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11876323	0.85[ASN][1000 genomes]
rs11876394	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13313691	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13381320	0.89[ASN][1000 genomes]
rs16952213	0.81[AFR][1000 genomes]
rs16952317	0.81[ASN][1000 genomes]
rs28507304	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4798572	0.80[EUR][1000 genomes]
rs55669819	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55793264	1.00[ASN][1000 genomes]
rs55983357	0.89[ASN][1000 genomes]
rs56079905	1.00[ASN][1000 genomes]
rs56165536	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57109716	0.85[ASN][1000 genomes]
rs58291169	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs58361187	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7226532	0.81[AFR][1000 genomes]
rs7230088	0.81[AFR][1000 genomes]
rs7235826	0.97[EUR][1000 genomes]
rs73387558	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73387591	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8089761	0.97[EUR][1000 genomes]
rs9946337	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9954075	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	esv2656232	chr18:7111033-7658679	Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv532282	chr18:7115075-7608218	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv1064597	chr18:7169490-7762738	Active TSS Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv543636	chr18:7169490-7762738	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv1063350	chr18:7215275-7659999	Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv534374	chr18:7438812-8412546	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
7	nsv458016	chr18:7488133-7934001	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv576399	chr18:7488133-7934001	Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	esv2762810	chr18:7492090-7924728	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	nsv1062911	chr18:7561991-8088274	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
11	nsv543637	chr18:7561991-8088274	Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
12	nsv1064345	chr18:7562051-8088274	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
13	nsv543638	chr18:7562051-8088274	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:7586400-7607600	Weak transcription	Aorta	Aorta
2	chr18:7591600-7603800	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr18:7592800-7603400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr18:7596400-7603400	Weak transcription	Colon Smooth Muscle	Colon
5	chr18:7596400-7603400	Weak transcription	Pancreas	Pancrea
6	chr18:7596400-7603600	Weak transcription	Rectal Smooth Muscle	rectum
7	chr18:7598600-7603600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr18:7599400-7602600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
9	chr18:7599400-7605000	Enhancers	Left Ventricle	heart
10	chr18:7599800-7602800	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr18:7600000-7603400	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr18:7600000-7605600	Weak transcription	Ovary	ovary
13	chr18:7600200-7603400	Weak transcription	Fetal Muscle Leg	muscle
14	chr18:7600200-7603800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr18:7600200-7607400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr18:7600400-7603600	Weak transcription	Small Intestine	intestine
17	chr18:7600400-7607200	Weak transcription	Fetal Brain Female	brain
18	chr18:7600600-7602600	Enhancers	HMEC	breast
19	chr18:7600600-7603800	Weak transcription	Fetal Brain Male	brain
20	chr18:7600600-7603800	Weak transcription	Fetal Lung	lung
21	chr18:7600800-7602800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr18:7600800-7603200	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr18:7600800-7603200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr18:7600800-7603400	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr18:7600800-7603600	Weak transcription	Brain Anterior Caudate	brain
26	chr18:7600800-7607200	Weak transcription	Stomach Smooth Muscle	stomach
27	chr18:7600800-7607800	Weak transcription	Adipose Nuclei	Adipose
28	chr18:7601000-7603200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr18:7601000-7603400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr18:7601000-7603400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr18:7601000-7603400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr18:7601000-7603600	Weak transcription	Psoas Muscle	Psoas
33	chr18:7601000-7605800	Weak transcription	Gastric	stomach
34	chr18:7601000-7607400	Weak transcription	Placenta	Placenta
35	chr18:7601000-7608600	Weak transcription	Fetal Stomach	stomach
36	chr18:7601200-7603400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr18:7601400-7603200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr18:7601600-7602600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr18:7601600-7603600	Weak transcription	Right Atrium	heart
40	chr18:7601600-7605800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr18:7601600-7607200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr18:7601800-7603200	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr18:7601800-7603200	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr18:7601800-7603400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr18:7601800-7605000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr18:7602000-7602800	Enhancers	Skeletal Muscle Male	skeletal muscle
47	chr18:7602000-7603400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr18:7602000-7603600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr18:7602000-7603800	Enhancers	HepG2	liver
50	chr18:7602000-7604000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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