Variant report

Variant	rs6718622
Chromosome Location	chr2:205560951-205560952
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:205559014..205560952-chr2:205561014..205563058,2	K562	blood:
2	chr2:205559125..205561820-chr2:205566265..205568560,2	MCF-7	breast:
3	chr2:205559014..205561100-chr2:205561558..205564355,2	K562	blood:

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10168631	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10174665	1.00[EUR][1000 genomes]
rs10179131	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10180863	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10184096	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10190242	1.00[EUR][1000 genomes]
rs10199785	1.00[AMR][1000 genomes]
rs10199977	1.00[AMR][1000 genomes]
rs10207338	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12328281	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13387065	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13393921	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13396823	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13409407	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13410864	1.00[AMR][1000 genomes]
rs13412778	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13413975	1.00[AMR][1000 genomes]
rs13417497	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13432594	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17595379	1.00[EUR][1000 genomes]
rs28538804	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28751884	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34575634	1.00[EUR][1000 genomes]
rs60899945	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6755557	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73059097	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73059099	1.00[EUR][1000 genomes]
rs7591676	1.00[EUR][1000 genomes]
rs9653255	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9973966	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv998485	chr2:205407813-206184006	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv536122	chr2:205407813-206184006	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv875722	chr2:205462099-205572718	Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv875723	chr2:205489653-205612846	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv1010210	chr2:205489653-206076013	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv584243	chr2:205539092-205630618	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	esv2757846	chr2:205539832-205841174	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	esv2759111	chr2:205539832-205841174	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:205555600-205562200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr2:205556600-205563600	Weak transcription	NHDF-Ad	bronchial
3	chr2:205557200-205561000	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr2:205557200-205595600	Weak transcription	Aorta	Aorta
5	chr2:205559800-205561000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr2:205560000-205561200	Enhancers	Colon Smooth Muscle	Colon
7	chr2:205560000-205561400	Enhancers	Liver	Liver
8	chr2:205560400-205569600	Weak transcription	Fetal Kidney	kidney
9	chr2:205560600-205561000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr2:205560600-205562200	Weak transcription	Psoas Muscle	Psoas
11	chr2:205560600-205565200	Weak transcription	Fetal Lung	lung
12	chr2:205560800-205561000	Enhancers	Duodenum Smooth Muscle	Duodenum
13	chr2:205560800-205562000	Weak transcription	HSMMtube	muscle
14	chr2:205560800-205565200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr2:205560800-205569800	Weak transcription	HSMM	muscle

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