Variant report

Variant	rs73798024
Chromosome Location	chr4:7936320-7936321
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr4:7935981-7936463	PANC-1	pancreas:	n/a	n/a
2	POLR2A	chr4:7936240-7936477	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr4:7935670-7936390	IMR90	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:7930429..7933293-chr4:7935968..7937557,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000228919	TF binding region

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs56125412	1.00[AMR][1000 genomes]
rs58156060	1.00[AFR][1000 genomes];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]
rs73795747	1.00[AMR][1000 genomes]
rs73798025	1.00[AFR][1000 genomes];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:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7926600-7936600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr4:7931400-7939800	Weak transcription	Fetal Kidney	kidney
3	chr4:7931600-7939600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr4:7931600-7939600	Weak transcription	Ovary	ovary
5	chr4:7931600-7939600	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr4:7931600-7939800	Weak transcription	Lung	lung
7	chr4:7931800-7937200	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr4:7931800-7937600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr4:7931800-7938000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr4:7931800-7938600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr4:7931800-7939600	Weak transcription	Brain Angular Gyrus	brain
12	chr4:7932000-7937400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr4:7932000-7938000	Weak transcription	Brain Germinal Matrix	brain
14	chr4:7932000-7938800	Weak transcription	Fetal Lung	lung
15	chr4:7932000-7939600	Weak transcription	Brain Anterior Caudate	brain
16	chr4:7932000-7939600	Weak transcription	Duodenum Mucosa	Duodenum
17	chr4:7932000-7939600	Weak transcription	Left Ventricle	heart
18	chr4:7932000-7939600	Weak transcription	NHLF	lung
19	chr4:7932000-7939800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr4:7932000-7939800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr4:7932000-7939800	Weak transcription	Small Intestine	intestine
22	chr4:7932200-7938400	Weak transcription	Fetal Muscle Trunk	muscle
23	chr4:7932200-7939600	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr4:7932200-7939600	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr4:7932200-7939800	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr4:7932200-7939800	Weak transcription	Pancreas	Pancrea
27	chr4:7932400-7936600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr4:7932400-7937200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr4:7932400-7937400	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr4:7932400-7939600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr4:7932600-7937400	Weak transcription	Primary T helper cells fromperipheralblood	blood
32	chr4:7932800-7939600	Weak transcription	Primary T cells fromperipheralblood	blood
33	chr4:7934200-7936400	Strong transcription	Fetal Stomach	stomach
34	chr4:7934400-7936600	Strong transcription	Fetal Intestine Large	intestine
35	chr4:7934800-7936400	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr4:7934800-7936400	Strong transcription	Fetal Intestine Small	intestine
37	chr4:7935200-7936400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr4:7935400-7936400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr4:7935400-7936400	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr4:7935400-7936400	Enhancers	Esophagus	oesophagus
41	chr4:7935400-7936600	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr4:7935400-7936600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr4:7935400-7936600	Enhancers	HMEC	breast
44	chr4:7935400-7936600	Genic enhancers	HSMM	muscle
45	chr4:7935400-7939600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr4:7935600-7936400	Genic enhancers	NH-A	brain
47	chr4:7935600-7936600	Enhancers	Gastric	stomach
48	chr4:7935600-7936600	Transcr. at gene 5' and 3'	Osteobl	bone
49	chr4:7935600-7939600	Weak transcription	Aorta	Aorta
50	chr4:7935600-7939600	Enhancers	HSMMtube	muscle

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