Variant report

Variant	rs12035480
Chromosome Location	chr1:168441687-168441688
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	chr1:168434236..168435916-chr1:168440122..168441908,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs12035479	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1737166	0.85[EUR][1000 genomes]
rs1737167	0.85[EUR][1000 genomes]
rs1737168	0.83[EUR][1000 genomes]
rs1737169	0.83[EUR][1000 genomes]
rs1746250	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1746252	0.85[EUR][1000 genomes]
rs1746253	0.85[EUR][1000 genomes]
rs1746254	0.83[EUR][1000 genomes]
rs858093	0.85[ASN][1000 genomes]
rs858115	0.80[EUR][1000 genomes]
rs858116	0.84[EUR][1000 genomes]
rs858117	0.84[EUR][1000 genomes]
rs858118	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3401824	chr1:168439853-168442701	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
2	esv3443456	chr1:168440262-168441728	Enhancers Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
3	esv3409695	chr1:168440278-168442326	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv1014626	chr1:168441288-168642731	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv535196	chr1:168441288-168642731	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	nsv1011821	chr1:168441488-168642592	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
7	nsv535197	chr1:168441488-168642592	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:168433800-168443400	Weak transcription	Liver	Liver
2	chr1:168434400-168443600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr1:168435800-168451400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr1:168439200-168450200	Weak transcription	Stomach Smooth Muscle	stomach
5	chr1:168439400-168442600	Weak transcription	Fetal Intestine Large	intestine
6	chr1:168439400-168443400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr1:168439400-168443400	Weak transcription	Spleen	Spleen
8	chr1:168439400-168446200	Weak transcription	Primary T cells fromperipheralblood	blood
9	chr1:168439400-168451400	Weak transcription	Ovary	ovary
10	chr1:168440400-168451200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr1:168440400-168453000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr1:168440600-168442400	Weak transcription	HepG2	liver
13	chr1:168440600-168443200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr1:168440600-168443400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr1:168440600-168445800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr1:168440600-168445800	Weak transcription	Colon Smooth Muscle	Colon
17	chr1:168440600-168445800	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr1:168440600-168446000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr1:168440600-168446400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr1:168440800-168443400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr1:168440800-168444200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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