Variant report

Variant	rs13152128
Chromosome Location	chr4:3392350-3392351
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:3391529..3394240-chr4:3404646..3406512,2	K562	blood:
2	chr4:3386670..3388644-chr4:3392209..3394600,2	MCF-7	breast:
3	chr4:3391661..3394248-chr4:3394902..3396855,2	MCF-7	breast:
4	chr4:3391760..3394372-chr4:3396180..3399240,3	K562	blood:

Variant related genes	Relation type
ENSG00000159788	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10029047	0.82[EUR][1000 genomes]
rs12644442	0.96[CEU][hapmap];0.90[JPT][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13109976	0.81[JPT][hapmap]
rs13116176	0.85[JPT][hapmap]
rs13127597	0.91[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1320762	0.85[JPT][hapmap]
rs1320763	0.90[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs1406674	0.92[CEU][hapmap];0.81[JPT][hapmap];0.82[EUR][1000 genomes]
rs1406675	0.92[CEU][hapmap];0.82[JPT][hapmap];0.82[EUR][1000 genomes]
rs16843157	0.81[JPT][hapmap]
rs16844301	0.80[CHB][hapmap]
rs16844307	0.86[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs16844309	0.86[CHB][hapmap];0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs17797467	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1894442	0.83[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1962767	0.92[CEU][hapmap];0.90[JPT][hapmap];0.86[EUR][1000 genomes]
rs3213506	0.81[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs3213507	0.86[CHB][hapmap]
rs4690090	0.91[CHB][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs4690098	0.81[JPT][hapmap]
rs62274930	0.82[ASN][1000 genomes]
rs6446740	0.92[CEU][hapmap];0.81[JPT][hapmap];0.82[EUR][1000 genomes]
rs6828057	0.96[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.82[YRI][hapmap];0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9790656	0.95[CHB][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs9995777	0.96[CEU][hapmap];0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3418626	chr4:2741174-3461492	Genic enhancers Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	esv3397632	chr4:2741239-3460583	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
3	nsv878456	chr4:3215835-3467519	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv428106	chr4:3226182-3752322	Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
5	nsv878462	chr4:3311548-3505448	Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
6	nsv1007847	chr4:3317904-3527357	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
7	nsv537001	chr4:3317904-3527357	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
8	nsv878463	chr4:3363994-3498896	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	nsv428435	chr4:3386773-3623321	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:3386600-3392400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
2	chr4:3386600-3393800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr4:3386800-3393600	Enhancers	H1 Cell Line	embryonic stem cell
4	chr4:3386800-3393600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr4:3386800-3395800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr4:3387600-3392600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr4:3388000-3394400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr4:3388400-3393600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr4:3388600-3392400	Enhancers	Fetal Muscle Trunk	muscle
10	chr4:3388600-3394400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr4:3388800-3392600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
12	chr4:3388800-3392600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr4:3388800-3392800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr4:3388800-3394400	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr4:3389000-3393400	Enhancers	Brain Germinal Matrix	brain
16	chr4:3389200-3395000	Weak transcription	HepG2	liver
17	chr4:3389200-3403400	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr4:3390000-3393400	Enhancers	Placenta	Placenta
19	chr4:3390000-3404600	Weak transcription	Left Ventricle	heart
20	chr4:3390000-3417200	Weak transcription	Gastric	stomach
21	chr4:3390200-3394200	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr4:3390200-3398600	Weak transcription	Brain Angular Gyrus	brain
23	chr4:3390600-3392400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
24	chr4:3391000-3392400	Enhancers	Spleen	Spleen
25	chr4:3391000-3392800	Enhancers	iPS-20b Cell Line	embryonic stem cell
26	chr4:3391000-3394000	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr4:3391000-3398000	Weak transcription	Fetal Brain Female	brain
28	chr4:3391000-3404600	Weak transcription	Aorta	Aorta
29	chr4:3391000-3414000	Weak transcription	Primary T cells from cord blood	blood
30	chr4:3391200-3392400	Enhancers	Right Ventricle	heart
31	chr4:3391200-3392600	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr4:3391200-3392600	Enhancers	Esophagus	oesophagus
33	chr4:3391200-3392600	Genic enhancers	Fetal Stomach	stomach
34	chr4:3391200-3396800	Weak transcription	NHLF	lung
35	chr4:3391200-3398800	Weak transcription	Right Atrium	heart
36	chr4:3391400-3392400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr4:3391400-3392400	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr4:3391400-3392400	Enhancers	Adipose Nuclei	Adipose
39	chr4:3391400-3392600	Enhancers	Brain Anterior Caudate	brain
40	chr4:3391400-3392800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr4:3391400-3407400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr4:3391400-3408800	Weak transcription	Ovary	ovary
43	chr4:3391600-3392600	Enhancers	Primary monocytes fromperipheralblood	blood
44	chr4:3391600-3392600	Enhancers	Primary hematopoietic stem cells short term culture	blood
45	chr4:3391600-3392800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr4:3391600-3392800	Weak transcription	HSMM	muscle
47	chr4:3391600-3394000	Weak transcription	Osteobl	bone
48	chr4:3391600-3395200	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr4:3391600-3397800	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr4:3391600-3399200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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