Variant report

Variant	rs10190558
Chromosome Location	chr2:172266497-172266498
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:172265755..172268604-chr2:172378756..172380414,2	K562	blood:
2	chr2:172260491..172264264-chr2:172264585..172267651,3	K562	blood:
3	chr2:172264614..172267336-chr2:172269012..172271608,3	K562	blood:
4	chr2:172265528..172268533-chr2:172288621..172291396,3	MCF-7	breast:
5	chr2:172257799..172259945-chr2:172263821..172267063,3	K562	blood:
6	chr2:172265513..172268385-chr2:172270721..172272607,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000071967	Chromatin interaction
ENSG00000123600	Chromatin interaction
ENSG00000115827	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10204895	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10469638	1.00[AFR][1000 genomes]
rs11891287	1.00[AMR][1000 genomes]
rs13404032	1.00[AFR][1000 genomes]
rs13413694	1.00[AMR][1000 genomes]
rs6433289	1.00[AMR][1000 genomes]
rs7595340	1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3382346	chr2:172062677-172363892	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172222200-172289600	Weak transcription	Gastric	stomach
2	chr2:172238000-172272400	Weak transcription	Fetal Intestine Large	intestine
3	chr2:172238800-172272400	Weak transcription	Primary T cells from cord blood	blood
4	chr2:172258600-172272400	Weak transcription	A549	lung
5	chr2:172259400-172272200	Weak transcription	Fetal Intestine Small	intestine
6	chr2:172260000-172271000	Weak transcription	K562	blood
7	chr2:172260200-172272200	Weak transcription	HepG2	liver
8	chr2:172261600-172277800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr2:172262400-172268800	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr2:172264800-172272400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr2:172265000-172272200	Weak transcription	Primary B cells from cord blood	blood
12	chr2:172265200-172267200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr2:172265400-172267000	Enhancers	H9 Cell Line	embryonic stem cell
14	chr2:172265400-172267400	Enhancers	H1 Cell Line	embryonic stem cell
15	chr2:172265600-172266600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr2:172265600-172267200	Enhancers	HSMMtube	muscle
17	chr2:172265800-172266600	Active TSS	Breast Myoepithelial Primary Cells	Breast
18	chr2:172265800-172266600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr2:172265800-172267000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr2:172265800-172267000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr2:172265800-172267200	Flanking Active TSS	NHEK	skin
22	chr2:172266000-172266600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
23	chr2:172266000-172266600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr2:172266000-172266600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
25	chr2:172266000-172266800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr2:172266000-172266800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
27	chr2:172266000-172266800	Enhancers	Cortex derived primary cultured neurospheres	brain
28	chr2:172266000-172266800	Enhancers	Duodenum Smooth Muscle	Duodenum
29	chr2:172266000-172266800	Flanking Active TSS	GM12878-XiMat	blood
30	chr2:172266000-172267400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr2:172266000-172267400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
32	chr2:172266000-172268000	Enhancers	Hela-S3	cervix
33	chr2:172266000-172269800	Enhancers	NHDF-Ad	bronchial
34	chr2:172266200-172266600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr2:172266200-172267400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr2:172266400-172266600	Weak transcription	Fetal Brain Female	brain
37	chr2:172266400-172266600	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr2:172266400-172266800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr2:172266400-172266800	Enhancers	Fetal Stomach	stomach
40	chr2:172266400-172266800	Active TSS	HMEC	breast
41	chr2:172266400-172266800	Enhancers	NHLF	lung
42	chr2:172266400-172267200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr2:172266400-172267200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr2:172266400-172267200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr2:172266400-172267200	Weak transcription	Fetal Kidney	kidney
46	chr2:172266400-172267400	Enhancers	iPS-15b Cell Line	embryonic stem cell
47	chr2:172266400-172267400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr2:172266400-172267400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr2:172266400-172267400	Weak transcription	Dnd41	blood
50	chr2:172266400-172267400	Enhancers	NH-A	brain

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