Variant report

Variant	rs73827923
Chromosome Location	chr4:79187470-79187471
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	chr4:79153666..79155870-chr4:79187424..79190153,2	K562	blood:

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs17003090	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17003102	0.87[AMR][1000 genomes]
rs17003104	0.87[AMR][1000 genomes]
rs17003105	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17003106	0.85[AMR][1000 genomes]
rs17003107	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17003109	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1825417	0.87[AMR][1000 genomes]
rs41391850	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs55714031	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55895609	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs56323989	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs58723665	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs59429199	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs59522692	0.87[AMR][1000 genomes]
rs61150533	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61476761	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6812049	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6821829	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6822437	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6834011	0.98[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs6838026	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6839334	0.87[AMR][1000 genomes]
rs6840763	0.87[AMR][1000 genomes]
rs6855248	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs728200	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73827911	0.85[AMR][1000 genomes]
rs73827912	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs73827913	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs73827916	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73827918	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73827922	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs73827925	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73827930	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73827931	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73827932	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73827934	0.87[AMR][1000 genomes]
rs73827935	0.87[AMR][1000 genomes]
rs73827943	0.87[AMR][1000 genomes]
rs73827946	0.85[AMR][1000 genomes]
rs73827948	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7667557	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7682296	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs7687027	0.87[AMR][1000 genomes]
rs7687406	0.87[AMR][1000 genomes]
rs7688218	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7690232	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7699637	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs994186	0.87[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534024	chr4:78785189-79437403	ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv1009633	chr4:78887573-79652236	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv525530	chr4:79024524-79266563	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
4	nsv1010782	chr4:79057839-79387207	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	nsv829978	chr4:79144453-79291868	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv818246	chr4:79184338-79221851	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:79169600-79187800	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr4:79169800-79197400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr4:79169800-79213800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr4:79174600-79197400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr4:79174800-79214400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr4:79175000-79187600	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr4:79175000-79188000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr4:79176400-79191000	Weak transcription	Psoas Muscle	Psoas
9	chr4:79176600-79189200	Weak transcription	Fetal Heart	heart
10	chr4:79182400-79189600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr4:79185600-79192400	Strong transcription	HUES48 Cell Line	embryonic stem cell
12	chr4:79185800-79187800	Strong transcription	Fetal Kidney	kidney
13	chr4:79185800-79190200	Weak transcription	Stomach Smooth Muscle	stomach
14	chr4:79186000-79187600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
15	chr4:79186000-79192000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
16	chr4:79186200-79187600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
17	chr4:79186200-79187600	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
18	chr4:79186200-79187800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr4:79186200-79188000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr4:79186200-79189000	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr4:79186200-79189000	Strong transcription	Fetal Intestine Large	intestine
22	chr4:79186200-79189600	Strong transcription	HepG2	liver
23	chr4:79186600-79188200	ZNF genes & repeats	Fetal Intestine Small	intestine
24	chr4:79186600-79188400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr4:79186800-79187600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
26	chr4:79187000-79188600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr4:79187200-79187600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr4:79187200-79187600	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
29	chr4:79187200-79187600	ZNF genes & repeats	Left Ventricle	heart
30	chr4:79187200-79187800	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr4:79187200-79187800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
32	chr4:79187200-79187800	ZNF genes & repeats	Fetal Lung	lung
33	chr4:79187400-79187800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr4:79187400-79187800	ZNF genes & repeats	Fetal Stomach	stomach
35	chr4:79187400-79188200	ZNF genes & repeats	HSMMtube	muscle
36	chr4:79187400-79188600	ZNF genes & repeats	Pancreas	Pancrea

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