Variant report

Variant	rs2503820
Chromosome Location	chr6:5401696-5401697
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	chr6:5214686..5215658-chr6:5401229..5403280,10	K562	blood:

Extended variants
information (count: 74 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs11242997	1.00[EUR][1000 genomes]
rs11242998	1.00[EUR][1000 genomes]
rs11242999	1.00[EUR][1000 genomes]
rs13202971	1.00[EUR][1000 genomes]
rs13203250	1.00[EUR][1000 genomes]
rs13212749	1.00[EUR][1000 genomes]
rs13219950	1.00[EUR][1000 genomes]
rs17133271	1.00[EUR][1000 genomes]
rs17139838	1.00[EUR][1000 genomes]
rs17139841	1.00[EUR][1000 genomes]
rs17139848	1.00[EUR][1000 genomes]
rs17139851	1.00[EUR][1000 genomes]
rs17139853	1.00[EUR][1000 genomes]
rs17139856	1.00[EUR][1000 genomes]
rs17139860	1.00[EUR][1000 genomes]
rs34041880	1.00[EUR][1000 genomes]
rs34110180	1.00[EUR][1000 genomes]
rs34120947	1.00[EUR][1000 genomes]
rs34146318	1.00[EUR][1000 genomes]
rs34170037	1.00[EUR][1000 genomes]
rs34211615	1.00[EUR][1000 genomes]
rs34265509	1.00[EUR][1000 genomes]
rs34421021	1.00[EUR][1000 genomes]
rs34440991	1.00[EUR][1000 genomes]
rs34449449	1.00[EUR][1000 genomes]
rs34512910	1.00[EUR][1000 genomes]
rs34713043	1.00[EUR][1000 genomes]
rs34908251	1.00[EUR][1000 genomes]
rs34968842	1.00[EUR][1000 genomes]
rs35039476	1.00[EUR][1000 genomes]
rs35277899	1.00[EUR][1000 genomes]
rs35324863	1.00[EUR][1000 genomes]
rs35587351	1.00[EUR][1000 genomes]
rs35864979	1.00[EUR][1000 genomes]
rs35869391	1.00[EUR][1000 genomes]
rs36010137	1.00[EUR][1000 genomes]
rs36018728	1.00[EUR][1000 genomes]
rs55720402	1.00[EUR][1000 genomes]
rs56034435	1.00[EUR][1000 genomes]
rs56343430	1.00[EUR][1000 genomes]
rs59994371	1.00[EUR][1000 genomes]
rs61089858	1.00[EUR][1000 genomes]
rs6901286	1.00[EUR][1000 genomes]
rs6921627	1.00[EUR][1000 genomes]
rs6935667	1.00[EUR][1000 genomes]
rs6935687	1.00[EUR][1000 genomes]
rs71557549	1.00[EUR][1000 genomes]
rs71557550	1.00[EUR][1000 genomes]
rs71557551	1.00[EUR][1000 genomes]
rs73718006	1.00[EUR][1000 genomes]
rs73718008	1.00[EUR][1000 genomes]
rs73718010	1.00[EUR][1000 genomes]
rs73718012	1.00[EUR][1000 genomes]
rs73719759	1.00[EUR][1000 genomes]
rs73719775	1.00[EUR][1000 genomes]
rs73719776	1.00[EUR][1000 genomes]
rs7744301	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1031837	chr6:4996667-5418726	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
2	nsv1030254	chr6:5132261-5431585	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
3	nsv1019428	chr6:5216835-5627839	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv538118	chr6:5216835-5627839	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv830578	chr6:5264086-5455570	ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv1022738	chr6:5298362-5411645	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	nsv883417	chr6:5307432-5431340	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	nsv883418	chr6:5307432-5501389	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv1015643	chr6:5311590-5452427	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv1034607	chr6:5311590-5573514	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	nsv538120	chr6:5311590-5573514	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
12	nsv916361	chr6:5315853-5695486	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
13	nsv1030744	chr6:5328012-5458222	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
14	nsv1023027	chr6:5377308-5556749	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
15	nsv538121	chr6:5377308-5556749	Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
16	nsv1022505	chr6:5388025-5449240	Enhancers Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
17	nsv5180	chr6:5389197-5434354	Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:5369400-5419800	Weak transcription	Aorta	Aorta
2	chr6:5369600-5417400	Weak transcription	Fetal Intestine Small	intestine
3	chr6:5371000-5411400	Weak transcription	Ovary	ovary
4	chr6:5374400-5431400	Weak transcription	Primary B cells from cord blood	blood
5	chr6:5395400-5431200	Weak transcription	Left Ventricle	heart
6	chr6:5399200-5403000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr6:5399200-5415800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr6:5399200-5440000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr6:5401200-5402600	Weak transcription	NHEK	skin

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