Variant report

Variant	rs71602480
Chromosome Location	chr4:596998-596999
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:596564..597094-chr4:694530..695404,2	MCF-7	breast:
2	chr4:594528..597198-chr4:965968..968861,2	K562	blood:
3	chr4:593904..597020-chr4:753917..757326,3	MCF-7	breast:
4	chr4:596111..597042-chr4:667746..668632,4	MCF-7	breast:
5	chr4:596154..597075-chr4:736291..737077,3	MCF-7	breast:
6	chr4:596138..597128-chr4:673282..674051,3	MCF-7	breast:
7	chr4:594354..601823-chr4:659072..674169,20	MCF-7	breast:
8	chr4:596162..597825-chr4:597849..599357,2	MCF-7	breast:
9	chr4:595977..599927-chr4:674651..678190,4	MCF-7	breast:
10	chr4:596548..597072-chr4:667539..668639,3	K562	blood:
11	chr4:595274..598065-chr4:602440..604215,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000145214	Chromatin interaction
ENSG00000169020	Chromatin interaction
ENSG00000215375	Chromatin interaction

Extended variants
information (count: 96 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:85)

rs_ID	r²[population]
rs10012461	0.85[EUR][1000 genomes]
rs10015198	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10018393	0.85[EUR][1000 genomes]
rs10024575	0.85[EUR][1000 genomes]
rs13101691	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13103955	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13104878	0.87[EUR][1000 genomes]
rs13107526	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13110755	0.87[EUR][1000 genomes]
rs13111179	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13114299	0.87[EUR][1000 genomes]
rs13116523	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13117283	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13118033	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13127213	0.96[EUR][1000 genomes]
rs13133935	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13136626	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13139052	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13139089	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13143415	0.91[EUR][1000 genomes]
rs13147797	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13150119	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28648408	0.85[EUR][1000 genomes]
rs28654405	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28682363	0.85[EUR][1000 genomes]
rs28687729	1.00[EUR][1000 genomes]
rs28754934	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34053163	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34075612	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34094325	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34096984	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34165278	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34293668	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34363025	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34366493	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34391278	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34402770	1.00[EUR][1000 genomes]
rs34421911	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34477049	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34568772	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34585712	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34587191	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs34698095	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34953355	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34992186	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35006826	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35137658	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35158410	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35207129	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35219160	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35270524	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35455427	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35535457	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35564967	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35621318	0.87[EUR][1000 genomes]
rs35621580	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35649145	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35694609	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35732782	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35843044	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35853545	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35869797	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35894204	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35896648	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35925646	0.87[EUR][1000 genomes]
rs35935310	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35972513	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs36060793	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs36117387	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61760239	0.87[EUR][1000 genomes]
rs71602477	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71602479	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71602481	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71602482	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71602484	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71602486	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71602489	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71602490	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs71602492	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71602500	0.87[EUR][1000 genomes]
rs7657809	0.85[EUR][1000 genomes]
rs7672426	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7674091	0.85[EUR][1000 genomes]
rs7674895	0.85[EUR][1000 genomes]
rs7685281	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1011715	chr4:43860-823487	Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	esv2830422	chr4:72247-681939	Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
3	nsv532703	chr4:72447-614414	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	nsv931097	chr4:72447-683874	Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Weak transcription 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 miRNA target site	54 gene(s)	inside rSNPs	diseases
5	nsv532702	chr4:72447-755236	Active TSS ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
6	nsv532704	chr4:85040-628550	ZNF genes & repeats Enhancers Bivalent Enhancer Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
7	nsv1005224	chr4:507005-900281	Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Strong transcription Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
8	nsv536976	chr4:507005-900281	Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
9	nsv878245	chr4:509178-694613	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
10	nsv822425	chr4:540105-1413799	Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	108 gene(s)	inside rSNPs	diseases
11	nsv878246	chr4:592507-696848	Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:593600-605800	Weak transcription	Right Atrium	heart
2	chr4:594800-604200	Weak transcription	Brain Anterior Caudate	brain
3	chr4:596400-597000	Enhancers	Brain Inferior Temporal Lobe	brain
4	chr4:596400-597000	Bivalent Enhancer	Duodenum Mucosa	Duodenum
5	chr4:596400-597000	Enhancers	Esophagus	oesophagus
6	chr4:596400-597000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
7	chr4:596400-597000	Enhancers	Gastric	stomach
8	chr4:596600-597000	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr4:596600-597000	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
10	chr4:596600-597000	Enhancers	Brain Angular Gyrus	brain
11	chr4:596600-597000	Enhancers	Fetal Muscle Leg	muscle
12	chr4:596600-597000	Enhancers	Fetal Thymus	thymus
13	chr4:596600-597000	Enhancers	Thymus	Thymus
14	chr4:596600-598600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
15	chr4:596600-598800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr4:596600-599000	Enhancers	Primary hematopoietic stem cells	blood
17	chr4:596800-597000	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr4:596800-597000	Bivalent Enhancer	HepG2	liver
19	chr4:596800-597200	Weak transcription	Pancreas	Pancrea
20	chr4:596800-598000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr4:596800-598600	Enhancers	Primary T cells from cord blood	blood

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