Variant report

Variant	rs73795747
Chromosome Location	chr4:7896246-7896247
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs56125412	1.00[AMR][1000 genomes]
rs58156060	1.00[AMR][1000 genomes]
rs58161931	1.00[AMR][1000 genomes]
rs58578559	1.00[AMR][1000 genomes]
rs60252299	1.00[AMR][1000 genomes]
rs73795054	1.00[AMR][1000 genomes]
rs73795057	1.00[AMR][1000 genomes]
rs73797313	1.00[AMR][1000 genomes]
rs73798024	1.00[AMR][1000 genomes]
rs73798025	1.00[AMR][1000 genomes]
rs73798048	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv491712	chr4:7582506-8155069	Enhancers Bivalent Enhancer Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	esv34140	chr4:7787936-8172491	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
3	esv2754386	chr4:7822449-7992909	Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	esv2756298	chr4:7822449-7992909	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv878578	chr4:7841833-7969594	Enhancers Flanking Active TSS Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7857800-7896400	Weak transcription	Spleen	Spleen
2	chr4:7878200-7898400	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr4:7881800-7896600	Weak transcription	Lung	lung
4	chr4:7883200-7904400	Weak transcription	Gastric	stomach
5	chr4:7886800-7904400	Weak transcription	Small Intestine	intestine
6	chr4:7889200-7901200	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr4:7892000-7897000	Enhancers	Brain Germinal Matrix	brain
8	chr4:7892400-7897000	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr4:7892600-7903800	Weak transcription	Stomach Mucosa	stomach
10	chr4:7893000-7902200	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr4:7893200-7896600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr4:7893200-7903400	Weak transcription	Fetal Kidney	kidney
13	chr4:7893200-7905600	Weak transcription	Brain Angular Gyrus	brain
14	chr4:7893600-7900400	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr4:7893800-7902600	Weak transcription	Primary T helper cells fromperipheralblood	blood
16	chr4:7894200-7896400	Weak transcription	Placenta	Placenta
17	chr4:7894200-7901000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr4:7894200-7902000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr4:7894200-7912400	Weak transcription	Fetal Intestine Large	intestine
20	chr4:7894400-7896600	Weak transcription	Rectal Smooth Muscle	rectum
21	chr4:7894400-7898200	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr4:7894400-7900400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr4:7894400-7901000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr4:7894400-7901000	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr4:7894400-7901400	Weak transcription	Fetal Lung	lung
26	chr4:7894400-7904400	Weak transcription	Left Ventricle	heart
27	chr4:7894400-7906200	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr4:7894600-7896800	Genic enhancers	HSMM	muscle
29	chr4:7894600-7898000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr4:7894600-7898800	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr4:7894600-7898800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr4:7894600-7899600	Weak transcription	Ovary	ovary
33	chr4:7894600-7900400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr4:7894600-7901000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr4:7894600-7902800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr4:7894800-7896400	Weak transcription	Colon Smooth Muscle	Colon
37	chr4:7894800-7899600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr4:7894800-7900200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr4:7895000-7898800	Weak transcription	NHDF-Ad	bronchial
40	chr4:7895000-7899000	Weak transcription	NHLF	lung
41	chr4:7895000-7900200	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr4:7895000-7901000	Weak transcription	HSMMtube	muscle
43	chr4:7895000-7901200	Weak transcription	HUVEC	blood vessel
44	chr4:7895200-7896800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr4:7895200-7899400	Enhancers	Fetal Heart	heart
46	chr4:7895400-7896400	Genic enhancers	Osteobl	bone
47	chr4:7895400-7896800	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr4:7895400-7896800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
49	chr4:7895400-7896800	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr4:7895400-7897000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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