Variant report

Variant	rs11720480
Chromosome Location	chr3:60316347-60316348
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:60314052..60317809-chr3:60320135..60322733,3	K562	blood:

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10510838	0.93[CEU][hapmap];1.00[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs10510841	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11708562	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs11708661	1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs11711608	0.96[EUR][1000 genomes]
rs11713599	0.83[ASN][1000 genomes]
rs11716358	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs11717219	0.87[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs11717293	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs11717976	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17599894	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs17600161	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17600182	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17606826	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs17658293	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17658860	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs401810	1.00[JPT][hapmap]
rs57923315	0.83[ASN][1000 genomes]
rs58618157	0.83[ASN][1000 genomes]
rs60132759	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs67113918	0.96[EUR][1000 genomes]
rs6771883	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6779494	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6789565	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6789642	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6789978	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6800049	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6800393	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs6802584	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6808467	0.86[CEU][hapmap];0.95[EUR][1000 genomes]
rs73103055	1.00[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs73103073	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73103076	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73103085	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73103091	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73104916	0.83[ASN][1000 genomes]
rs73104921	0.83[ASN][1000 genomes]
rs73104925	0.87[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs73104930	0.83[ASN][1000 genomes]
rs73104932	0.83[ASN][1000 genomes]
rs73104934	0.83[ASN][1000 genomes]
rs73104937	0.83[ASN][1000 genomes]
rs73107018	0.88[ASN][1000 genomes]
rs73107020	0.88[ASN][1000 genomes]
rs73107021	0.88[ASN][1000 genomes]
rs73107051	0.88[ASN][1000 genomes]
rs73107055	0.88[ASN][1000 genomes]
rs73107058	0.88[ASN][1000 genomes]
rs73107060	0.88[ASN][1000 genomes]
rs73107062	0.88[ASN][1000 genomes]
rs9311762	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9878437	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9878446	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9882907	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.94[ASN][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	nsv1014983	chr3:59884024-60558331	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv590387	chr3:59890976-60481459	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1009971	chr3:60070974-60397331	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv529602	chr3:60088353-60830769	Enhancers Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1010969	chr3:60124962-60425297	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
6	esv2422232	chr3:60192201-60334555	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv876844	chr3:60256485-60362565	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv876845	chr3:60256485-60367607	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
9	nsv1001134	chr3:60262617-60344190	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
10	nsv590394	chr3:60289140-60388900	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
11	nsv999794	chr3:60301059-60332871	Enhancers Weak transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
12	nsv1011408	chr3:60307954-60417143	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
13	nsv1011133	chr3:60309541-60417339	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
14	nsv519353	chr3:60310790-60417103	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
15	nsv460568	chr3:60310790-60417103	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
16	nsv590395	chr3:60310790-60417103	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
17	nsv1013291	chr3:60312356-60417339	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:60309400-60321600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr3:60316200-60318400	Enhancers	Dnd41	blood

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