Variant report

Variant	rs73982553
Chromosome Location	chr2:205690144-205690145
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	chr2:205681291..205682929-chr2:205688867..205690549,2	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs16836499	1.00[AMR][1000 genomes]
rs41454345	1.00[AMR][1000 genomes]
rs55885667	1.00[AMR][1000 genomes]
rs55900334	1.00[AMR][1000 genomes]
rs56034781	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57973835	1.00[AMR][1000 genomes]
rs58058037	1.00[AMR][1000 genomes]
rs58415117	0.82[AFR][1000 genomes]
rs59155262	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60803761	1.00[AMR][1000 genomes]
rs6718742	0.82[AFR][1000 genomes]
rs6739672	1.00[AMR][1000 genomes]
rs73982509	1.00[AMR][1000 genomes]
rs73982510	1.00[AMR][1000 genomes]
rs73982518	1.00[AMR][1000 genomes]
rs73982520	1.00[AMR][1000 genomes]
rs73982557	0.82[AFR][1000 genomes]
rs73984285	1.00[AMR][1000 genomes]
rs73984292	1.00[AMR][1000 genomes]
rs73986205	1.00[AMR][1000 genomes]
rs73986206	1.00[AMR][1000 genomes]
rs73986207	1.00[AMR][1000 genomes]
rs7568881	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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	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
4	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
5	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
6	nsv875724	chr2:205572718-205727222	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
7	nsv875725	chr2:205572718-205760800	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
8	nsv875726	chr2:205588773-205700834	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
9	nsv875727	chr2:205626483-205715245	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:205686000-205692600	Weak transcription	Fetal Kidney	kidney
2	chr2:205688400-205690600	Enhancers	Placenta	Placenta
3	chr2:205688800-205690200	Enhancers	Spleen	Spleen
4	chr2:205688800-205690600	Enhancers	Fetal Intestine Large	intestine
5	chr2:205689000-205690600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:205689400-205690400	Enhancers	NHEK	skin
7	chr2:205689600-205690200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
8	chr2:205689600-205690200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr2:205689600-205690200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr2:205689600-205690600	Enhancers	Fetal Intestine Small	intestine
11	chr2:205689600-205690800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr2:205689800-205690200	Enhancers	HSMM	muscle
13	chr2:205689800-205690400	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr2:205689800-205690600	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr2:205689800-205690800	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr2:205689800-205692600	Weak transcription	Left Ventricle	heart
17	chr2:205690000-205690400	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr2:205690000-205690400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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