Variant report

Variant	rs7597830
Chromosome Location	chr2:49094708-49094709
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	chr2:48826097..48828718-chr2:49093582..49095780,2	K562	blood:

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10495961	0.90[ASN][1000 genomes]
rs12991843	1.00[ASN][1000 genomes]
rs13009992	0.90[ASN][1000 genomes]
rs13014494	0.95[ASN][1000 genomes]
rs13015025	0.95[ASN][1000 genomes]
rs13025362	0.90[ASN][1000 genomes]
rs13026157	0.90[ASN][1000 genomes]
rs17483876	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17556035	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34339121	0.90[ASN][1000 genomes]
rs34375934	0.90[ASN][1000 genomes]
rs34428472	1.00[ASN][1000 genomes]
rs4374422	0.90[ASN][1000 genomes]
rs4432506	0.90[ASN][1000 genomes]
rs4525742	0.95[ASN][1000 genomes]
rs4533511	0.90[ASN][1000 genomes]
rs4558635	0.95[ASN][1000 genomes]
rs55663001	0.90[ASN][1000 genomes]
rs55712456	1.00[ASN][1000 genomes]
rs55930451	0.90[ASN][1000 genomes]
rs55971673	0.90[ASN][1000 genomes]
rs56963017	0.90[ASN][1000 genomes]
rs57463767	1.00[ASN][1000 genomes]
rs58176203	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58718281	0.90[ASN][1000 genomes]
rs59230684	1.00[ASN][1000 genomes]
rs59263252	1.00[ASN][1000 genomes]
rs60324887	0.85[ASN][1000 genomes]
rs60732263	1.00[ASN][1000 genomes]
rs61020573	1.00[ASN][1000 genomes]
rs6706022	0.90[ASN][1000 genomes]
rs67138907	0.90[ASN][1000 genomes]
rs6721247	0.90[ASN][1000 genomes]
rs6734547	0.90[ASN][1000 genomes]
rs72811832	0.85[ASN][1000 genomes]
rs72811860	0.90[ASN][1000 genomes]
rs72811867	0.90[ASN][1000 genomes]
rs72811870	0.90[ASN][1000 genomes]
rs72811872	0.95[ASN][1000 genomes]
rs72811873	0.95[ASN][1000 genomes]
rs72811885	1.00[ASN][1000 genomes]
rs72811892	1.00[ASN][1000 genomes]
rs72823283	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7423715	1.00[ASN][1000 genomes]
rs7567401	1.00[ASN][1000 genomes]
rs7591357	1.00[ASN][1000 genomes]
rs7594280	1.00[ASN][1000 genomes]
rs7594367	1.00[ASN][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	nsv1002793	chr2:48771220-49466550	ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv1004965	chr2:48796170-49443587	Bivalent Enhancer Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv535684	chr2:48796170-49443587	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv498119	chr2:48808834-49422647	Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	nsv998864	chr2:49015878-49230000	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv874005	chr2:49086399-49142199	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv1013414	chr2:49090394-49191927	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv1012090	chr2:49090394-49192704	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv874006	chr2:49092782-49141414	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:49090200-49095000	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr2:49092800-49098200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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