Variant report

Variant	rs56028117
Chromosome Location	chr2:64330449-64330450
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10165165	0.81[ASN][1000 genomes]
rs10169847	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10170224	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10175483	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10183513	0.81[ASN][1000 genomes]
rs10191854	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10192104	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10192378	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10201191	0.84[AMR][1000 genomes]
rs10204631	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13385515	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13408188	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13412068	0.99[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13418461	0.81[ASN][1000 genomes]
rs13419918	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13428357	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28757314	0.81[ASN][1000 genomes]
rs28798530	0.81[ASN][1000 genomes]
rs3731962	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3755112	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56301411	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60338887	0.93[ASN][1000 genomes]
rs60882934	1.00[ASN][1000 genomes]
rs7579828	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	nsv531376	chr2:64094322-64521876	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv1013132	chr2:64235175-64631084	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	esv2757803	chr2:64253005-64539556	Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	esv2759055	chr2:64253005-64539556	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
5	nsv428396	chr2:64253005-64539556	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
6	esv34698	chr2:64312142-64521366	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
7	esv34955	chr2:64312182-64521290	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
8	nsv834243	chr2:64316514-64476935	ZNF genes & repeats Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:64313200-64341800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:64317200-64335600	Strong transcription	Primary neutrophils fromperipheralblood	blood
3	chr2:64317800-64333200	Strong transcription	Primary monocytes fromperipheralblood	blood
4	chr2:64318200-64333600	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr2:64318400-64335600	Strong transcription	HUES48 Cell Line	embryonic stem cell
6	chr2:64318800-64336400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr2:64320400-64339200	Weak transcription	NHLF	lung
8	chr2:64320600-64332200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr2:64321000-64332200	Weak transcription	Hela-S3	cervix
10	chr2:64322200-64336200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr2:64322400-64336000	Strong transcription	HUES64 Cell Line	embryonic stem cell
12	chr2:64322800-64332400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
13	chr2:64322800-64335800	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr2:64323400-64333200	Weak transcription	Pancreas	Pancrea
15	chr2:64323400-64334000	Weak transcription	Esophagus	oesophagus
16	chr2:64323400-64341400	Weak transcription	Aorta	Aorta
17	chr2:64323600-64330600	Weak transcription	NHEK	skin
18	chr2:64323600-64333000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr2:64323600-64333000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr2:64323600-64333200	Weak transcription	NHDF-Ad	bronchial
21	chr2:64323600-64336000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr2:64323600-64336000	Weak transcription	Brain Angular Gyrus	brain
23	chr2:64323600-64336000	Weak transcription	Psoas Muscle	Psoas
24	chr2:64323600-64341800	Weak transcription	Right Ventricle	heart
25	chr2:64323600-64364400	Weak transcription	Fetal Brain Male	brain
26	chr2:64323800-64331800	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr2:64323800-64332000	Weak transcription	Brain Anterior Caudate	brain
28	chr2:64323800-64332800	Weak transcription	Fetal Stomach	stomach
29	chr2:64323800-64333000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr2:64323800-64333200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr2:64323800-64341000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr2:64323800-64341600	Weak transcription	Gastric	stomach
33	chr2:64323800-64341600	Weak transcription	K562	blood
34	chr2:64324000-64333200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr2:64324000-64333400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr2:64324000-64336000	Weak transcription	Dnd41	blood
37	chr2:64324000-64341200	Weak transcription	HSMM	muscle
38	chr2:64324000-64341600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr2:64324200-64332600	Weak transcription	Fetal Brain Female	brain
40	chr2:64324400-64330600	Weak transcription	Small Intestine	intestine
41	chr2:64324400-64331600	Weak transcription	Fetal Kidney	kidney
42	chr2:64324400-64332400	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr2:64324400-64332400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr2:64324400-64332800	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr2:64324400-64333000	Weak transcription	Thymus	Thymus
46	chr2:64324400-64335800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr2:64324400-64335800	Weak transcription	Brain Substantia Nigra	brain
48	chr2:64324400-64336000	Weak transcription	Ovary	ovary
49	chr2:64324400-64336000	Weak transcription	Spleen	Spleen
50	chr2:64324400-64338200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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