Variant report

Variant	rs1387472
Chromosome Location	chr2:179713073-179713074
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	SPI1	chr2:179713011-179713511	HL-60	blood:	n/a	chr2:179713263-179713276 chr2:179713266-179713275 chr2:179713264-179713277

Variant related genes	Relation type
CCDC141	TF binding region

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10497527	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12464157	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12468141	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12469672	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12476203	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12477340	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13400020	0.93[EUR][1000 genomes]
rs1489481	0.87[ASN][1000 genomes]
rs17453396	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17453403	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4894054	0.87[ASN][1000 genomes]
rs55800269	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs55913885	0.91[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs966449	0.87[ASN][1000 genomes]
rs966783	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834470	chr2:179555152-179728726	Active TSS Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv934108	chr2:179556852-179729925	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv521818	chr2:179710973-179713601	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
4	nsv949133	chr2:179711376-180124327	Flanking Active TSS ZNF genes & repeats Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:179693400-179726000	Weak transcription	Fetal Muscle Trunk	muscle
2	chr2:179694200-179713400	Weak transcription	Spleen	Spleen
3	chr2:179695800-179738400	Weak transcription	Fetal Intestine Large	intestine
4	chr2:179696400-179728800	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr2:179702200-179713200	Weak transcription	Fetal Thymus	thymus
6	chr2:179702200-179749200	Weak transcription	Thymus	Thymus
7	chr2:179702400-179729200	Weak transcription	Lung	lung
8	chr2:179702400-179730000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr2:179702800-179728600	Weak transcription	Pancreas	Pancrea
10	chr2:179704400-179720800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr2:179707200-179721000	Strong transcription	Primary T cells from cord blood	blood
12	chr2:179708000-179727800	Weak transcription	Psoas Muscle	Psoas
13	chr2:179709400-179714800	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr2:179710000-179714200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr2:179710200-179715000	Weak transcription	Ovary	ovary
16	chr2:179710800-179722400	Weak transcription	Fetal Lung	lung
17	chr2:179710800-179724000	Weak transcription	Fetal Intestine Small	intestine
18	chr2:179710800-179782800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr2:179711200-179714400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr2:179711200-179715000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr2:179711400-179714800	Weak transcription	Fetal Brain Male	brain
22	chr2:179711400-179719400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr2:179711400-179720600	Weak transcription	Right Ventricle	heart
24	chr2:179711600-179713800	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr2:179711600-179719800	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr2:179711600-179723800	Weak transcription	Rectal Smooth Muscle	rectum
27	chr2:179711600-179728000	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr2:179711600-179728400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr2:179711800-179714000	Strong transcription	Fetal Muscle Leg	muscle
30	chr2:179712000-179713400	Strong transcription	Primary B cells from cord blood	blood
31	chr2:179712000-179719200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr2:179712000-179727000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr2:179712200-179713400	Strong transcription	Primary B cells from peripheral blood	blood
34	chr2:179712200-179725800	Weak transcription	Left Ventricle	heart
35	chr2:179712400-179713400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr2:179712600-179713400	Strong transcription	Primary T helper naive cells from peripheral blood	blood
37	chr2:179712600-179713400	Strong transcription	Skeletal Muscle Female	skeletal muscle
38	chr2:179712600-179714200	Strong transcription	HSMMtube	muscle
39	chr2:179712600-179718200	Strong transcription	Primary T helper cells fromperipheralblood	blood
40	chr2:179712800-179713200	Strong transcription	Fetal Heart	heart
41	chr2:179712800-179713400	Strong transcription	H9 Cell Line	embryonic stem cell
42	chr2:179713000-179714600	Strong transcription	Primary T helper cells PMA-I stimulated	--
43	chr2:179713000-179721400	Weak transcription	Primary hematopoietic stem cells	blood
44	chr2:179713000-179724400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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