Variant report

Variant	rs12079477
Chromosome Location	chr1:161694857-161694858
allele	A/G
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	POLR2A	chr1:161694571-161695004	K562	blood:	n/a	n/a
2	POLR2A	chr1:161694851-161694986	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:161474965..161476524-chr1:161694397..161697249,2	K562	blood:
2	chr1:161694367..161698874-chr1:161718174..161721030,6	MCF-7	breast:
3	chr1:161474965..161477021-chr1:161694558..161697249,2	K562	blood:

Variant related genes	Relation type
FCRLB	TF binding region
ENSG00000081721	Chromatin interaction
ENSG00000143226	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs12728899	0.82[GIH][hapmap]
rs12729592	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12749327	0.82[GIH][hapmap]
rs3738334	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6696500	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67476681	0.85[AFR][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	nsv428257	chr1:161406315-161868263	Bivalent/Poised TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	esv33393	chr1:161478681-162080327	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
3	nsv464184	chr1:161646807-161885352	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	nsv548075	chr1:161646807-161885352	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
5	nsv516773	chr1:161691433-161702763	Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	n/a
6	nsv464195	chr1:161693003-161702792	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	n/a
7	nsv548076	chr1:161693003-161702792	Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12079477	FCGR2B	cis	lymphoblastoid	seeQTL

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:161689000-161695400	Weak transcription	Primary T helper cells fromperipheralblood	blood
2	chr1:161689000-161695600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr1:161692200-161695400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr1:161692200-161695400	Weak transcription	A549	lung
5	chr1:161692200-161695600	Enhancers	K562	blood
6	chr1:161692400-161695000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr1:161692400-161695400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr1:161692400-161695400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr1:161692400-161695400	Weak transcription	HUVEC	blood vessel
10	chr1:161692400-161695400	Weak transcription	NH-A	brain
11	chr1:161692400-161695600	Weak transcription	Gastric	stomach
12	chr1:161692600-161695000	Weak transcription	Spleen	Spleen
13	chr1:161692600-161695400	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr1:161692600-161695400	Weak transcription	NHLF	lung
15	chr1:161692600-161695600	Weak transcription	HSMMtube	muscle
16	chr1:161692800-161695200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr1:161693800-161695000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr1:161693800-161695400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr1:161693800-161695400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr1:161693800-161695400	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr1:161693800-161695600	Enhancers	NHDF-Ad	bronchial
22	chr1:161694000-161695400	Weak transcription	HMEC	breast
23	chr1:161694000-161695400	Weak transcription	NHEK	skin
24	chr1:161694600-161695400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr1:161694600-161695400	Enhancers	Primary B cells from peripheral blood	blood
26	chr1:161694600-161695400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
27	chr1:161694600-161695400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr1:161694600-161695400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr1:161694600-161695600	Enhancers	Primary T helper naive cells from peripheral blood	blood
30	chr1:161694800-161695000	Bivalent/Poised TSS	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr1:161694800-161695200	Enhancers	GM12878-XiMat	blood
32	chr1:161694800-161695200	Weak transcription	Osteobl	bone
33	chr1:161694800-161695400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr1:161694800-161695400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr1:161694800-161695400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr1:161694800-161695400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

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