Variant report

Variant	rs2218190
Chromosome Location	chr1:47130594-47130595
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:47128228..47131029-chr1:47131863..47135222,3	MCF-7	breast:
2	chr1:47129860..47131954-chr1:47135983..47137506,2	K562	blood:

Variant related genes	Relation type
ENSG00000123472	Chromatin interaction
ENSG00000186118	Chromatin interaction
ENSG00000233647	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10890409	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10890412	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10890413	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11211334	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11211339	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11211340	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11211353	0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1139759	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12026027	0.83[ASN][1000 genomes]
rs12029031	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12038572	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12048954	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12118483	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12733214	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1440484	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2007344	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2275380	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3737729	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4660950	0.86[AMR][1000 genomes];0.85[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	nsv1001455	chr1:46828004-47326539	Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv534950	chr1:46828004-47326539	Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:47088200-47131600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr1:47101600-47133000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr1:47103000-47132800	Weak transcription	Spleen	Spleen
4	chr1:47105000-47132800	Weak transcription	Stomach Mucosa	stomach
5	chr1:47109400-47132600	Weak transcription	Hela-S3	cervix
6	chr1:47109600-47132600	Weak transcription	HMEC	breast
7	chr1:47115600-47133000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr1:47115800-47132000	Weak transcription	Fetal Heart	heart
9	chr1:47116000-47130600	Weak transcription	Esophagus	oesophagus
10	chr1:47116000-47131800	Weak transcription	Aorta	Aorta
11	chr1:47116600-47131400	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr1:47118000-47132800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr1:47119000-47132400	Weak transcription	A549	lung
14	chr1:47119200-47132400	Weak transcription	Small Intestine	intestine
15	chr1:47121000-47133000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr1:47122200-47131000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr1:47122400-47132000	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr1:47122600-47132200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr1:47122600-47133000	Weak transcription	Gastric	stomach
20	chr1:47122800-47132000	Weak transcription	NHLF	lung
21	chr1:47122800-47132200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr1:47123600-47131400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr1:47123600-47132600	Weak transcription	HUVEC	blood vessel
24	chr1:47123600-47133000	Weak transcription	HSMMtube	muscle
25	chr1:47125200-47133000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr1:47125400-47131600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr1:47125400-47132000	Weak transcription	Fetal Brain Male	brain
28	chr1:47125400-47133000	Weak transcription	NH-A	brain
29	chr1:47126400-47132000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
30	chr1:47127000-47132200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr1:47127400-47131800	Strong transcription	Fetal Stomach	stomach
32	chr1:47127400-47132200	Weak transcription	Fetal Lung	lung
33	chr1:47128600-47131400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr1:47129200-47130600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr1:47129200-47130800	Strong transcription	HUES64 Cell Line	embryonic stem cell
36	chr1:47129200-47130800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr1:47129200-47130800	Strong transcription	Stomach Smooth Muscle	stomach
38	chr1:47129200-47131000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr1:47129200-47131000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
40	chr1:47129200-47131000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr1:47129200-47131000	Strong transcription	Primary T cells fromperipheralblood	blood
42	chr1:47129200-47131000	Strong transcription	Primary T helper cells fromperipheralblood	blood
43	chr1:47129200-47131000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr1:47129200-47131000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr1:47129200-47131000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr1:47129200-47131000	Strong transcription	Duodenum Mucosa	Duodenum
47	chr1:47129200-47131200	Strong transcription	Liver	Liver
48	chr1:47129200-47131400	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr1:47129200-47131600	Strong transcription	Fetal Thymus	thymus
50	chr1:47129200-47132200	Strong transcription	Fetal Intestine Large	intestine

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