Variant report

Variant	rs17023418
Chromosome Location	chr2:100626325-100626326
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA3	chr2:100626125-100626400	T-47D	breast:	n/a	n/a
2	SPI1	chr2:100625994-100626456	HL-60	blood:	n/a	chr2:100626226-100626235 chr2:100626224-100626237 chr2:100626156-100626169

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:100615299..100618134-chr2:100624767..100626661,2	K562	blood:

Variant related genes	Relation type
AFF3	TF binding region

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10191655	1.00[EUR][1000 genomes]
rs13417574	1.00[EUR][1000 genomes]
rs17023423	1.00[YRI][hapmap];1.00[EUR][1000 genomes]
rs17023450	1.00[EUR][1000 genomes]
rs28757637	1.00[EUR][1000 genomes]
rs6743560	1.00[EUR][1000 genomes]
rs72966498	1.00[EUR][1000 genomes]
rs72968866	1.00[EUR][1000 genomes]
rs7604438	1.00[EUR][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	nsv1003343	chr2:100241560-100848900	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv535843	chr2:100241560-100848900	Genic enhancers Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:100592600-100626400	Weak transcription	NH-A	brain
2	chr2:100605200-100627200	Weak transcription	Primary T helper cells fromperipheralblood	blood
3	chr2:100605400-100627800	Weak transcription	Right Ventricle	heart
4	chr2:100612000-100634200	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr2:100615600-100626600	Strong transcription	Primary T cells from cord blood	blood
6	chr2:100615600-100638400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr2:100617600-100627400	Weak transcription	Fetal Muscle Trunk	muscle
8	chr2:100620200-100628000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr2:100620600-100635200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr2:100621600-100626600	Strong transcription	Dnd41	blood
11	chr2:100623400-100627600	Weak transcription	Right Atrium	heart
12	chr2:100623600-100628000	Weak transcription	Aorta	Aorta
13	chr2:100623600-100632400	Weak transcription	Spleen	Spleen
14	chr2:100623600-100633400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr2:100623800-100626400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr2:100623800-100627600	Weak transcription	Ovary	ovary
17	chr2:100623800-100630200	Weak transcription	Liver	Liver
18	chr2:100623800-100635200	Weak transcription	Brain Angular Gyrus	brain
19	chr2:100624000-100626800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr2:100624000-100634200	Weak transcription	Adipose Nuclei	Adipose
21	chr2:100624200-100626600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr2:100624200-100629400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr2:100624200-100632600	Weak transcription	Gastric	stomach
24	chr2:100624800-100657800	Weak transcription	Brain Germinal Matrix	brain
25	chr2:100625000-100626600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr2:100625000-100626600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr2:100625000-100627200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr2:100625000-100631200	Enhancers	NHDF-Ad	bronchial
29	chr2:100625200-100626400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr2:100625200-100626600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr2:100625200-100628400	Enhancers	Colon Smooth Muscle	Colon
32	chr2:100625200-100628600	Enhancers	Rectal Smooth Muscle	rectum
33	chr2:100625200-100628800	Enhancers	Osteobl	bone
34	chr2:100625200-100630200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr2:100625200-100631200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr2:100625200-100631200	Enhancers	NHLF	lung
37	chr2:100625200-100634600	Weak transcription	Fetal Thymus	thymus
38	chr2:100625400-100626600	Enhancers	Fetal Brain Male	brain
39	chr2:100625400-100626800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
40	chr2:100625400-100627000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr2:100625400-100628800	Enhancers	Fetal Stomach	stomach
42	chr2:100625400-100631200	Enhancers	Fetal Heart	heart
43	chr2:100625600-100626400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr2:100625600-100626600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
45	chr2:100625600-100626600	Enhancers	Primary hematopoietic stem cells short term culture	blood
46	chr2:100625600-100626600	Enhancers	Stomach Smooth Muscle	stomach
47	chr2:100625600-100632600	Weak transcription	Thymus	Thymus
48	chr2:100625800-100626600	Bivalent Enhancer	HUVEC	blood vessel
49	chr2:100625800-100626800	Genic enhancers	Primary hematopoietic stem cells	blood
50	chr2:100625800-100627200	Genic enhancers	Primary B cells from peripheral blood	blood

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