Variant report

Variant	rs4798870
Chromosome Location	chr18:9838428-9838429
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:9838309..9840508-chr18:9845163..9848337,3	K562	blood:
2	chr18:9835743..9838576-chr18:9911593..9914261,2	MCF-7	breast:
3	chr18:9835909..9838532-chr18:9841261..9843750,2	MCF-7	breast:
4	chr18:9837439..9839782-chr18:9846585..9850459,4	MCF-7	breast:
5	chr18:9837938..9840066-chr18:9840233..9841907,2	K562	blood:
6	chr18:9836686..9839180-chr18:9928720..9931249,2	K562	blood:
7	chr18:9825919..9829366-chr18:9837136..9840599,3	K562	blood:

Variant related genes	Relation type
ENSG00000272799	Chromatin interaction
ENSG00000168461	Chromatin interaction
ENSG00000101558	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1476847	0.85[CEU][hapmap];0.87[AMR][1000 genomes]
rs16955693	0.85[CEU][hapmap]
rs16955694	0.85[CEU][hapmap]
rs16955697	0.85[CEU][hapmap]
rs16955703	0.85[CEU][hapmap]
rs2284139	0.85[CEU][hapmap]
rs2284142	0.86[CEU][hapmap]
rs2299838	0.86[CEU][hapmap]
rs2903677	0.86[CEU][hapmap];0.84[JPT][hapmap]
rs4485437	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9961019	0.85[CEU][hapmap];0.85[AMR][1000 genomes];0.80[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	nsv469897	chr18:9674498-9870517	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
2	nsv482461	chr18:9674498-9870517	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	nsv833586	chr18:9783830-9971693	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Genic enhancers 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	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:9825400-9849800	Weak transcription	Gastric	stomach
2	chr18:9828400-9846000	Weak transcription	Pancreas	Pancrea
3	chr18:9829000-9841600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr18:9829000-9845200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr18:9829000-9848200	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr18:9829600-9838800	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr18:9829600-9846600	Weak transcription	NHDF-Ad	bronchial
8	chr18:9830400-9839400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr18:9831200-9847200	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr18:9831600-9852400	Weak transcription	A549	lung
11	chr18:9831800-9845200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr18:9832400-9846600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr18:9832800-9845000	Weak transcription	Osteobl	bone
14	chr18:9832800-9865000	Weak transcription	Spleen	Spleen
15	chr18:9833000-9846400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr18:9833200-9842200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr18:9833400-9839400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr18:9834600-9847400	Strong transcription	Primary monocytes fromperipheralblood	blood
19	chr18:9834800-9838800	Enhancers	Fetal Muscle Leg	muscle
20	chr18:9835000-9839600	Enhancers	Rectal Smooth Muscle	rectum
21	chr18:9835000-9840200	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr18:9836000-9840000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr18:9836200-9838600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr18:9836200-9846000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr18:9836200-9846800	Weak transcription	HMEC	breast
26	chr18:9836200-9848200	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr18:9836800-9838600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr18:9836800-9846400	Weak transcription	Fetal Intestine Small	intestine
29	chr18:9836800-9860400	Weak transcription	Brain Hippocampus Middle	brain
30	chr18:9837000-9838600	Weak transcription	Fetal Brain Male	brain
31	chr18:9837000-9838800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr18:9837000-9838800	Weak transcription	Lung	lung
33	chr18:9837000-9841600	Weak transcription	K562	blood
34	chr18:9837000-9844200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr18:9837000-9846200	Weak transcription	Fetal Thymus	thymus
36	chr18:9837200-9841000	Strong transcription	Hela-S3	cervix
37	chr18:9837800-9838600	Strong transcription	Primary B cells from peripheral blood	blood
38	chr18:9837800-9838800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr18:9837800-9840000	Enhancers	Colon Smooth Muscle	Colon
40	chr18:9837800-9840200	Enhancers	H1 Cell Line	embryonic stem cell
41	chr18:9837800-9840200	Enhancers	Fetal Heart	heart
42	chr18:9837800-9841000	Enhancers	Skeletal Muscle Female	skeletal muscle
43	chr18:9837800-9842800	Strong transcription	Primary neutrophils fromperipheralblood	blood
44	chr18:9838000-9838600	Enhancers	Cortex derived primary cultured neurospheres	brain
45	chr18:9838000-9838600	Enhancers	Aorta	Aorta
46	chr18:9838000-9839000	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr18:9838000-9839000	Weak transcription	Fetal Kidney	kidney
48	chr18:9838000-9839200	Enhancers	Placenta	Placenta
49	chr18:9838000-9839200	Flanking Active TSS	Stomach Smooth Muscle	stomach
50	chr18:9838000-9839200	Enhancers	HSMM	muscle

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