Variant report

Variant	rs2433377
Chromosome Location	chr18:29621579-29621580
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:29616707..29618971-chr18:29620186..29622381,2	K562	blood:

Variant related genes	Relation type
ENSG00000101695	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10438934	0.83[ASN][1000 genomes]
rs12455805	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12455807	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1984583	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2432697	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2901365	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs336273	0.82[ASN][1000 genomes]
rs336274	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs336275	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs336276	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs417944	0.89[ASN][1000 genomes]
rs62093943	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs641777	0.86[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7228224	0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs8089092	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9947278	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1803283	chr18:29591102-29640430	Flanking Bivalent TSS/Enh Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
2	nsv1061305	chr18:29609935-29664528	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:29599600-29629600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr18:29600600-29628400	Weak transcription	Hela-S3	cervix
3	chr18:29600800-29632400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr18:29602600-29628600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr18:29602600-29664200	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr18:29604600-29656000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr18:29606800-29637000	Weak transcription	Brain Anterior Caudate	brain
8	chr18:29609800-29628600	Weak transcription	Small Intestine	intestine
9	chr18:29611600-29628800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr18:29611800-29629000	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr18:29613000-29627000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr18:29615200-29648400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr18:29615800-29628400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr18:29616000-29640200	Weak transcription	Esophagus	oesophagus
15	chr18:29616200-29628800	Weak transcription	Gastric	stomach
16	chr18:29617200-29629600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr18:29618000-29628800	Weak transcription	Left Ventricle	heart
18	chr18:29618000-29629000	Weak transcription	Lung	lung
19	chr18:29618200-29624400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr18:29618200-29624600	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr18:29618400-29639800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr18:29618400-29646800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr18:29618600-29628200	Weak transcription	Fetal Muscle Trunk	muscle
24	chr18:29618600-29628600	Weak transcription	Spleen	Spleen
25	chr18:29618600-29642800	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr18:29619000-29622000	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr18:29619400-29624400	Weak transcription	Fetal Muscle Leg	muscle
28	chr18:29619400-29624600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr18:29619400-29625600	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr18:29619400-29645400	Weak transcription	Fetal Stomach	stomach
31	chr18:29619600-29622000	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr18:29619600-29622400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
33	chr18:29619800-29622000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr18:29619800-29622800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr18:29620000-29623400	Enhancers	Primary B cells from peripheral blood	blood
36	chr18:29620000-29624600	Weak transcription	Fetal Intestine Small	intestine
37	chr18:29620000-29625800	Enhancers	Primary monocytes fromperipheralblood	blood
38	chr18:29620200-29621600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr18:29620200-29622400	Weak transcription	Liver	Liver
40	chr18:29620400-29621600	Flanking Active TSS	Primary T cells from cord blood	blood
41	chr18:29620400-29621600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr18:29620400-29625000	Enhancers	Primary neutrophils fromperipheralblood	blood
43	chr18:29620600-29622200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr18:29620600-29623400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
45	chr18:29620600-29626600	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr18:29620800-29622600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
47	chr18:29621000-29622000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
48	chr18:29621000-29623000	Genic enhancers	Adipose Nuclei	Adipose
49	chr18:29621000-29623600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
50	chr18:29621200-29622000	Weak transcription	Fetal Thymus	thymus

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