Variant report

Variant	rs17037021
Chromosome Location	chr2:48088412-48088413
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:48086935..48088638-chr2:48134202..48136137,2	K562	blood:
2	chr2:48086644..48088998-chr2:48097721..48100272,2	K562	blood:
3	chr2:48087520..48090249-chr2:48098439..48100478,2	MCF-7	breast:
4	chr2:48087314..48088898-chr2:48131977..48133524,2	MCF-7	breast:
5	chr2:48086453..48088453-chr2:48131130..48133495,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000138081	Chromatin interaction
ENSG00000233230	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10490303	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10495948	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.87[TSI][hapmap];0.85[YRI][hapmap];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17036952	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[MEX][hapmap];0.91[AMR][1000 genomes]
rs17036971	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17037040	1.00[ASW][hapmap];1.00[CEU][hapmap];0.88[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17037055	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs17037062	1.00[CEU][hapmap];0.85[YRI][hapmap];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17037064	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs2134055	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2881863	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3136242	0.91[AMR][1000 genomes]
rs3136274	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3136286	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3136337	0.89[MKK][hapmap]
rs4381823	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs56682209	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56881113	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs58057481	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs58552166	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs59624704	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs60118201	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs60154625	0.81[AFR][1000 genomes]
rs60303023	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6704872	0.88[GIH][hapmap]
rs72876814	0.87[EUR][1000 genomes]
rs7560678	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv998096	chr2:47939614-48131697	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv1009769	chr2:47972642-48509765	Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv535680	chr2:47972642-48509765	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats 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
4	nsv930955	chr2:48040218-48121218	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv530831	chr2:48059709-48632317	Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
6	nsv519831	chr2:48072855-48566031	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
7	nsv523013	chr2:48073117-48146122	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
8	nsv874000	chr2:48078838-48291582	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:48043400-48088600	Weak transcription	Pancreas	Pancrea
2	chr2:48049200-48096000	Weak transcription	Gastric	stomach
3	chr2:48060200-48093000	Weak transcription	Psoas Muscle	Psoas
4	chr2:48061400-48093800	Weak transcription	Brain Cingulate Gyrus	brain
5	chr2:48064000-48095200	Weak transcription	Spleen	Spleen
6	chr2:48065400-48098200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr2:48065400-48114000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr2:48066000-48097400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr2:48066000-48100400	Weak transcription	Thymus	Thymus
10	chr2:48066200-48094600	Weak transcription	Fetal Kidney	kidney
11	chr2:48066400-48092200	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr2:48066400-48097600	Weak transcription	Stomach Smooth Muscle	stomach
13	chr2:48066800-48094200	Weak transcription	HSMM	muscle
14	chr2:48066800-48094400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr2:48067000-48091800	Weak transcription	HUVEC	blood vessel
16	chr2:48067000-48094200	Weak transcription	HMEC	breast
17	chr2:48067000-48094800	Weak transcription	K562	blood
18	chr2:48067000-48095800	Weak transcription	Fetal Thymus	thymus
19	chr2:48067000-48122000	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr2:48067600-48097600	Weak transcription	Dnd41	blood
21	chr2:48067800-48094400	Weak transcription	Right Atrium	heart
22	chr2:48070400-48091800	Weak transcription	Brain Substantia Nigra	brain
23	chr2:48072200-48093000	Weak transcription	Lung	lung
24	chr2:48073000-48095200	Weak transcription	Right Ventricle	heart
25	chr2:48073000-48096000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr2:48073600-48100000	Weak transcription	Fetal Muscle Trunk	muscle
27	chr2:48075600-48094400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr2:48075800-48095800	Weak transcription	Fetal Intestine Large	intestine
29	chr2:48077000-48088600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr2:48077400-48094000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr2:48077800-48089800	Weak transcription	GM12878-XiMat	blood
32	chr2:48078000-48090800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr2:48080200-48088600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr2:48081200-48094200	Weak transcription	Fetal Lung	lung
35	chr2:48081400-48094000	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr2:48083200-48092400	Weak transcription	Left Ventricle	heart
37	chr2:48083400-48089000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr2:48083600-48094200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr2:48083800-48094000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr2:48083800-48096200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr2:48084400-48094200	Weak transcription	Pancreatic Islets	Pancreatic Islet
42	chr2:48084400-48108000	Weak transcription	Primary neutrophils fromperipheralblood	blood
43	chr2:48084600-48091800	Weak transcription	Duodenum Mucosa	Duodenum
44	chr2:48084800-48092200	Weak transcription	Primary B cells from cord blood	blood
45	chr2:48085000-48088800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
46	chr2:48085000-48091600	Weak transcription	Brain Hippocampus Middle	brain
47	chr2:48085000-48092000	Weak transcription	Primary hematopoietic stem cells	blood
48	chr2:48085000-48092200	Weak transcription	Primary B cells from peripheral blood	blood
49	chr2:48085000-48092200	Weak transcription	Brain Anterior Caudate	brain
50	chr2:48085000-48092200	Weak transcription	HepG2	liver

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