Variant report

Variant	rs3751375
Chromosome Location	chr13:39606402-39606403
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:39606299..39608281-chr13:39724327..39725956,2	K562	blood:
2	chr13:39599530..39604283-chr13:39604707..39609132,9	K562	blood:

Variant related genes	Relation type
ENSG00000120685	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1012243	0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1043348	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11147746	0.91[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12427448	0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12428640	0.83[EUR][1000 genomes]
rs12428949	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12584883	0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12585367	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17058909	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.81[EUR][1000 genomes]
rs17059019	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17826235	0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2148419	0.89[ASN][1000 genomes]
rs60968029	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61737582	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6563659	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.80[AFR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7323843	0.80[AFR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73456199	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs943225	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs943233	0.87[ASW][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.91[YRI][hapmap];0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2754118	chr13:39347702-40222644	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	esv2753642	chr13:39522300-39649000	Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
3	esv2753553	chr13:39526600-39649000	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:39582000-39608200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr13:39583200-39606600	Strong transcription	Primary monocytes fromperipheralblood	blood
3	chr13:39587800-39608200	Weak transcription	Fetal Brain Male	brain
4	chr13:39588400-39608800	Weak transcription	Stomach Mucosa	stomach
5	chr13:39588600-39608200	Weak transcription	Hela-S3	cervix
6	chr13:39588600-39610400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr13:39589200-39608400	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr13:39589200-39609400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr13:39591200-39608400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr13:39592400-39606600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr13:39594800-39608400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr13:39595000-39606600	Strong transcription	Fetal Thymus	thymus
13	chr13:39598000-39607800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr13:39598000-39609600	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr13:39598200-39608800	Weak transcription	Fetal Heart	heart
16	chr13:39598400-39608400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr13:39598400-39609600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr13:39599000-39608200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr13:39599000-39608400	Weak transcription	Small Intestine	intestine
20	chr13:39599800-39607600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr13:39599800-39608200	Weak transcription	Brain Cingulate Gyrus	brain
22	chr13:39599800-39608400	Weak transcription	Aorta	Aorta
23	chr13:39599800-39608400	Weak transcription	Esophagus	oesophagus
24	chr13:39599800-39608400	Weak transcription	Fetal Intestine Small	intestine
25	chr13:39599800-39608400	Weak transcription	Left Ventricle	heart
26	chr13:39599800-39608400	Weak transcription	Pancreas	Pancrea
27	chr13:39599800-39608400	Weak transcription	Thymus	Thymus
28	chr13:39599800-39608400	Weak transcription	Spleen	Spleen
29	chr13:39599800-39608400	Weak transcription	A549	lung
30	chr13:39599800-39608800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr13:39599800-39609000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr13:39599800-39609400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr13:39599800-39609400	Weak transcription	Fetal Stomach	stomach
34	chr13:39599800-39609400	Weak transcription	Gastric	stomach
35	chr13:39599800-39609400	Weak transcription	Right Ventricle	heart
36	chr13:39599800-39610400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr13:39599800-39610600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr13:39599800-39611200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr13:39600000-39608200	Weak transcription	K562	blood
40	chr13:39600000-39608400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr13:39600000-39608400	Weak transcription	Brain Substantia Nigra	brain
42	chr13:39600400-39608000	Weak transcription	Brain Anterior Caudate	brain
43	chr13:39600600-39608400	Weak transcription	Brain Angular Gyrus	brain
44	chr13:39600600-39610600	Weak transcription	Lung	lung
45	chr13:39601000-39606600	Strong transcription	HUES6 Cell Line	embryonic stem cell
46	chr13:39601000-39608400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
47	chr13:39601000-39608800	Weak transcription	Ovary	ovary
48	chr13:39601200-39606800	Strong transcription	HUES48 Cell Line	embryonic stem cell
49	chr13:39601200-39608200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr13:39601200-39608600	Weak transcription	Primary T killer memory cells from peripheral blood	blood

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