Variant report

Variant	rs2941579
Chromosome Location	chr2:54861825-54861826
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:54854025..54856092-chr2:54861803..54863797,2	K562	blood:
2	chr2:54859857..54861976-chr2:54864372..54866931,2	K562	blood:
3	chr2:54856136..54858884-chr2:54860390..54861894,2	MCF-7	breast:

Extended variants
information (count: 8 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10181201	1.00[CHD][hapmap]
rs2941581	0.97[AFR][1000 genomes]
rs2941593	1.00[CHB][hapmap]
rs2941594	1.00[CHB][hapmap]
rs354229	0.90[EUR][1000 genomes]
rs354230	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.94[MEX][hapmap];0.91[TSI][hapmap];0.91[EUR][1000 genomes]
rs4258834	1.00[CHD][hapmap]

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	esv33638	chr2:54765256-55109455	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2941579	C2orf63	cis	parietal	SCAN

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54838800-54893400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr2:54839000-54864200	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr2:54839200-54866000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr2:54839400-54895000	Strong transcription	Primary neutrophils fromperipheralblood	blood
5	chr2:54839600-54862600	Strong transcription	Primary monocytes fromperipheralblood	blood
6	chr2:54841200-54897800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr2:54842000-54863600	Strong transcription	Fetal Brain Female	brain
8	chr2:54842400-54862800	Strong transcription	NHEK	skin
9	chr2:54842600-54892000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr2:54842800-54862400	Strong transcription	H1 Cell Line	embryonic stem cell
11	chr2:54842800-54867800	Strong transcription	H9 Cell Line	embryonic stem cell
12	chr2:54846200-54864400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr2:54846400-54895600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr2:54846400-54896600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
15	chr2:54846600-54898000	Strong transcription	Dnd41	blood
16	chr2:54846800-54895400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr2:54847400-54865800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr2:54848000-54868800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr2:54848600-54892400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr2:54850600-54864200	Genic enhancers	Liver	Liver
21	chr2:54851800-54864200	Genic enhancers	Left Ventricle	heart
22	chr2:54856600-54862000	Genic enhancers	Stomach Smooth Muscle	stomach
23	chr2:54856600-54862600	Genic enhancers	Lung	lung
24	chr2:54856800-54862200	Genic enhancers	Adipose Nuclei	Adipose
25	chr2:54857000-54862000	Genic enhancers	NHLF	lung
26	chr2:54857000-54862400	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr2:54857000-54869400	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr2:54857000-54883400	Strong transcription	Hela-S3	cervix
29	chr2:54857200-54862800	Enhancers	Right Atrium	heart
30	chr2:54857400-54862800	Strong transcription	Fetal Brain Male	brain
31	chr2:54857400-54864000	Genic enhancers	Fetal Lung	lung
32	chr2:54857800-54862400	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr2:54858200-54862000	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr2:54858400-54862200	Strong transcription	Fetal Intestine Large	intestine
35	chr2:54858600-54863800	Strong transcription	Colonic Mucosa	Colon
36	chr2:54858600-54864200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr2:54858800-54864000	Genic enhancers	Fetal Thymus	thymus
38	chr2:54859400-54873400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr2:54859800-54862000	Genic enhancers	Fetal Kidney	kidney
40	chr2:54859800-54862200	Genic enhancers	Duodenum Smooth Muscle	Duodenum
41	chr2:54859800-54864200	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
42	chr2:54860000-54862000	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr2:54860000-54862200	Genic enhancers	HSMM	muscle
44	chr2:54860000-54862600	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr2:54860000-54862600	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr2:54860000-54863000	Genic enhancers	Primary T helper cells fromperipheralblood	blood
47	chr2:54860000-54863800	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
48	chr2:54860200-54862000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
49	chr2:54860200-54862600	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr2:54860200-54862600	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

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