Variant report

Variant	rs60893927
Chromosome Location	chr2:97040677-97040678
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:96999598..97002888-chr2:97039436..97041804,3	K562	blood:
2	chr2:96999897..97002755-chr2:97039436..97042284,2	K562	blood:
3	chr2:96970065..96972935-chr2:97039577..97041922,2	K562	blood:

Variant related genes	Relation type
ENSG00000121152	Chromatin interaction
ENSG00000144028	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs12611936	1.00[AMR][1000 genomes]
rs12612136	1.00[AMR][1000 genomes]
rs12614113	1.00[AMR][1000 genomes]
rs12614623	1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12616326	1.00[AMR][1000 genomes]
rs12619114	1.00[AMR][1000 genomes]
rs12619490	1.00[AMR][1000 genomes]
rs12619573	1.00[AMR][1000 genomes]
rs12619919	1.00[AMR][1000 genomes]
rs12620576	1.00[AMR][1000 genomes]
rs12620768	1.00[AMR][1000 genomes]
rs12621163	1.00[AMR][1000 genomes]
rs12621619	1.00[AMR][1000 genomes]
rs12621688	1.00[AMR][1000 genomes]
rs2276647	1.00[AMR][1000 genomes]
rs2290908	1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs3813659	1.00[AMR][1000 genomes]
rs3813660	1.00[AMR][1000 genomes]
rs57213829	1.00[AMR][1000 genomes]
rs57319731	1.00[AMR][1000 genomes]
rs57367779	1.00[AMR][1000 genomes]
rs57477571	1.00[AMR][1000 genomes]
rs58132887	1.00[AMR][1000 genomes]
rs58152078	1.00[AMR][1000 genomes]
rs58926149	1.00[AFR][1000 genomes]
rs59168739	1.00[AMR][1000 genomes]
rs59525841	1.00[AMR][1000 genomes]
rs59621486	1.00[AMR][1000 genomes]
rs59911784	1.00[AMR][1000 genomes]
rs59939559	1.00[AMR][1000 genomes]
rs60013962	1.00[AMR][1000 genomes]
rs60020980	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60302421	1.00[AMR][1000 genomes]
rs60596893	1.00[AMR][1000 genomes]
rs61096003	1.00[AMR][1000 genomes]
rs73958190	1.00[AFR][1000 genomes]
rs73958197	1.00[AFR][1000 genomes]
rs73958200	1.00[AFR][1000 genomes]
rs73958202	1.00[AFR][1000 genomes]
rs73960840	1.00[AFR][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	nsv933671	chr2:96739308-97652262	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
2	nsv1000780	chr2:96740430-97671395	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
3	nsv535826	chr2:96740430-97671395	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
4	nsv874677	chr2:96756547-97717345	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
5	nsv1001204	chr2:96766559-97728507	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
6	nsv535827	chr2:96766559-97728507	Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
7	nsv874679	chr2:96860971-97184160	Strong transcription Active TSS Flanking Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
8	nsv508155	chr2:96934695-97138302	Bivalent Enhancer Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised 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	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:97006200-97041000	Strong transcription	Dnd41	blood
2	chr2:97006800-97040800	Strong transcription	HUES6 Cell Line	embryonic stem cell
3	chr2:97007200-97041600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr2:97019200-97042000	Weak transcription	Spleen	Spleen
5	chr2:97020000-97041400	Weak transcription	HSMM	muscle
6	chr2:97029000-97041000	Weak transcription	Primary T cells from cord blood	blood
7	chr2:97032200-97041800	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr2:97036200-97044600	Weak transcription	Gastric	stomach
9	chr2:97036400-97041000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr2:97036600-97043000	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr2:97037000-97041400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr2:97037200-97040800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr2:97037400-97040800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr2:97037800-97041000	Weak transcription	Fetal Intestine Small	intestine
15	chr2:97037800-97044400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr2:97038000-97040800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr2:97038000-97041400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr2:97038000-97041400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr2:97038200-97041200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr2:97039200-97040800	Enhancers	Fetal Heart	heart
21	chr2:97039600-97040800	Enhancers	Adipose Nuclei	Adipose
22	chr2:97039800-97041000	Enhancers	Right Ventricle	heart
23	chr2:97040000-97040800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr2:97040000-97041200	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr2:97040000-97041600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr2:97040000-97042000	Weak transcription	HepG2	liver
27	chr2:97040000-97042000	Weak transcription	NHEK	skin
28	chr2:97040000-97042400	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr2:97040200-97041000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr2:97040200-97041000	Weak transcription	Primary hematopoietic stem cells	blood
31	chr2:97040200-97041400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr2:97040200-97042000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr2:97040200-97042200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr2:97040400-97040800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr2:97040400-97041800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
36	chr2:97040400-97042200	Weak transcription	Monocytes-CD14+_RO01746	blood
37	chr2:97040400-97043000	Weak transcription	Primary neutrophils fromperipheralblood	blood
38	chr2:97040600-97040800	Weak transcription	Fetal Muscle Leg	muscle
39	chr2:97040600-97040800	ZNF genes & repeats	Fetal Thymus	thymus
40	chr2:97040600-97041000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr2:97040600-97041000	Weak transcription	GM12878-XiMat	blood
42	chr2:97040600-97041200	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr2:97040600-97041600	Weak transcription	A549	lung
44	chr2:97040600-97042000	Weak transcription	Thymus	Thymus
45	chr2:97040600-97042000	Weak transcription	K562	blood
46	chr2:97040600-97042200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr2:97040600-97042800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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