Variant report

Variant	rs72900761
Chromosome Location	chr4:110566967-110566968
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:110566516..110569395-chr4:110734588..110736719,2	K562	blood:

Variant related genes	Relation type
ENSG00000272795	Chromatin interaction
ENSG00000109534	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs57247132	1.00[AMR][1000 genomes]
rs58830158	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59905504	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60182255	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60632814	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72886507	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72886531	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72886546	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72900779	0.85[AFR][1000 genomes];1.00[AMR][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	nsv461613	chr4:109922064-110593460	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv595129	chr4:109922064-110593460	Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	esv3349784	chr4:110348873-110723163	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:110533000-110573000	Weak transcription	Monocytes-CD14+_RO01746	blood
2	chr4:110546600-110580600	Weak transcription	Thymus	Thymus
3	chr4:110550600-110569200	Weak transcription	GM12878-XiMat	blood
4	chr4:110562200-110567200	Weak transcription	Stomach Mucosa	stomach
5	chr4:110562400-110569000	Weak transcription	Primary B cells from peripheral blood	blood
6	chr4:110562800-110569400	Enhancers	Primary T cells from cord blood	blood
7	chr4:110563200-110567000	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr4:110563600-110567000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr4:110564800-110568800	Enhancers	Primary T killer memory cells from peripheral blood	blood
10	chr4:110564800-110569400	Enhancers	Primary T helper naive cells from peripheral blood	blood
11	chr4:110565000-110569400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr4:110565200-110569400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
13	chr4:110565600-110569400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
14	chr4:110565800-110576600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr4:110566200-110568600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
16	chr4:110566200-110569400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
17	chr4:110566400-110567200	Enhancers	Fetal Thymus	thymus
18	chr4:110566600-110567000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr4:110566600-110567800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
20	chr4:110566600-110569400	Enhancers	Primary T cells fromperipheralblood	blood
21	chr4:110566600-110569400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
22	chr4:110566800-110567200	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr4:110566800-110567200	Enhancers	Fetal Heart	heart
24	chr4:110566800-110567400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
25	chr4:110566800-110567600	Enhancers	Right Atrium	heart
26	chr4:110566800-110567800	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr4:110566800-110568000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
28	chr4:110566800-110569600	Strong transcription	Primary B cells from cord blood	blood

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