Variant report

Variant	rs13130107
Chromosome Location	chr4:119609246-119609247
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:119608875..119611520-chr4:119620589..119622906,3	K562	blood:

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

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs11722833	0.96[EUR][1000 genomes]
rs12500272	0.96[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs12509236	0.91[EUR][1000 genomes]
rs12509654	0.96[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs13109947	0.81[EUR][1000 genomes]
rs13109966	0.81[EUR][1000 genomes]
rs13114964	0.81[EUR][1000 genomes]
rs17050423	0.81[EUR][1000 genomes]
rs298976	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs298977	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs298980	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs298981	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs298989	1.00[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs298990	0.97[EUR][1000 genomes]
rs298993	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs298997	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs299002	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs299003	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs299004	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34371874	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34384498	0.81[EUR][1000 genomes]
rs399086	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs401950	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs428409	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs437027	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs439159	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4834698	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4834699	0.91[EUR][1000 genomes]
rs960739	0.95[EUR][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	nsv519017	chr4:118828807-119771481	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS 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	39 gene(s)	inside rSNPs	diseases
2	esv3355840	chr4:119296640-119774737	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv427693	chr4:119493919-119674742	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:119607000-119644800	Weak transcription	Small Intestine	intestine
2	chr4:119607200-119609400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr4:119607200-119609400	Weak transcription	Gastric	stomach
4	chr4:119607200-119609400	Weak transcription	Spleen	Spleen
5	chr4:119607200-119610800	Weak transcription	Pancreas	Pancrea
6	chr4:119607200-119615800	Weak transcription	Esophagus	oesophagus
7	chr4:119607200-119659200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr4:119607400-119613200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr4:119607600-119609400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr4:119607600-119613000	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr4:119607600-119615800	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr4:119607800-119610400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr4:119607800-119610400	Weak transcription	Fetal Kidney	kidney
14	chr4:119607800-119610600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr4:119607800-119610800	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr4:119607800-119613200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr4:119607800-119615800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr4:119607800-119615800	Weak transcription	Psoas Muscle	Psoas
19	chr4:119607800-119618000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr4:119607800-119625600	Weak transcription	Aorta	Aorta
21	chr4:119607800-119693800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr4:119608000-119610400	Weak transcription	Primary neutrophils fromperipheralblood	blood
23	chr4:119608000-119610600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr4:119608000-119610600	Weak transcription	Stomach Smooth Muscle	stomach
25	chr4:119608000-119618800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr4:119608000-119645000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr4:119608200-119609400	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr4:119608200-119609400	Weak transcription	Primary B cells from cord blood	blood
29	chr4:119608200-119610400	Weak transcription	Fetal Lung	lung
30	chr4:119608200-119610400	Weak transcription	HUVEC	blood vessel
31	chr4:119608400-119610400	Weak transcription	NH-A	brain
32	chr4:119608400-119610600	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr4:119608400-119610600	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr4:119608400-119611400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr4:119608400-119612000	Weak transcription	HSMM	muscle
36	chr4:119608400-119612600	Weak transcription	NHDF-Ad	bronchial
37	chr4:119608400-119613200	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr4:119608400-119613600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr4:119608400-119613600	Weak transcription	Brain Hippocampus Middle	brain
40	chr4:119608400-119613800	Weak transcription	Brain Germinal Matrix	brain
41	chr4:119608400-119615600	Weak transcription	A549	lung
42	chr4:119608400-119615800	Weak transcription	NHLF	lung
43	chr4:119608400-119618600	Weak transcription	Brain Substantia Nigra	brain
44	chr4:119608600-119609400	Genic enhancers	Dnd41	blood
45	chr4:119608600-119612600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
46	chr4:119608600-119612800	Weak transcription	K562	blood
47	chr4:119608600-119618400	Weak transcription	Colonic Mucosa	Colon
48	chr4:119608600-119635200	Strong transcription	Fetal Thymus	thymus
49	chr4:119608600-119635800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr4:119608600-119674000	Weak transcription	Stomach Mucosa	stomach

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