Variant report

Variant	rs10801480
Chromosome Location	chr1:195834016-195834017
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:195827750..195829795-chr1:195832219..195835214,2	K562	blood:
2	chr1:195833404..195836340-chr1:195839707..195841267,2	K562	blood:
3	chr1:195833265..195836261-chr1:195994257..195997150,2	K562	blood:
4	chr1:195831209..195836948-chr1:195865315..195869441,6	K562	blood:
5	chr1:195830037..195831904-chr1:195832068..195835892,3	K562	blood:
6	chr1:195832078..195834352-chr1:195866206..195869346,3	K562	blood:
7	chr1:195833669..195835807-chr1:195874591..195877128,2	K562	blood:

No data

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10494733	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10801478	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10801479	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10801481	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10801482	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10801483	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10801484	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10921968	0.94[ASN][1000 genomes]
rs10921969	0.89[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs10921970	0.89[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs10921971	0.87[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs10921972	0.94[ASN][1000 genomes]
rs12093330	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12139103	0.86[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs12140768	0.91[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs12144374	0.89[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs12144425	0.89[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs12725637	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12743539	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4356030	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4408132	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4440839	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4454529	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4559482	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4587547	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4587548	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7534788	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7542834	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:33 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv872937	chr1:195493538-195849028	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
2	nsv1007203	chr1:195672857-195902360	Enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
3	nsv1014402	chr1:195792089-195877256	Enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases
4	esv2757765	chr1:195803764-196119454	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	esv2758989	chr1:195803764-196119454	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv470768	chr1:195804144-195872295	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv872942	chr1:195811203-195844389	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv872943	chr1:195811203-195849028	Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases
9	esv2756364	chr1:195818443-196020535	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	esv2755652	chr1:195819871-195885825	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
11	esv2755902	chr1:195819871-196028887	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
12	nsv1005644	chr1:195820337-195874907	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
13	nsv999005	chr1:195825370-195874907	Enhancers Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
14	nsv872944	chr1:195826738-195853219	Weak transcription Active TSS Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
15	nsv872945	chr1:195826738-195881459	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
16	nsv1004411	chr1:195828499-195874907	Enhancers Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
17	nsv1010327	chr1:195828499-195876292	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
18	esv2760075	chr1:195828511-195874907	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
19	nsv1006423	chr1:195830320-195874907	Flanking Active TSS Weak transcription Enhancers Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
20	nsv1004106	chr1:195830320-195876060	Enhancers Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
21	nsv1009478	chr1:195830320-195876979	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
22	nsv1007929	chr1:195830760-195874907	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
23	nsv548718	chr1:195831030-195869123	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
24	nsv520252	chr1:195831030-195872295	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
25	nsv548719	chr1:195831030-195872295	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
26	nsv548720	chr1:195831030-195874388	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
27	nsv548721	chr1:195831030-195881459	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
28	nsv548722	chr1:195831358-195872295	Enhancers Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
29	nsv872946	chr1:195832253-195859022	Weak transcription Enhancers Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
30	nsv467284	chr1:195832253-195869123	Enhancers Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
31	nsv548723	chr1:195832253-195869123	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
32	nsv872947	chr1:195832253-195881459	Flanking Active TSS Enhancers Active TSS Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
33	nsv8658	chr1:195832644-195835747	Weak transcription Enhancers Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:195821600-195835200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr1:195833600-195834600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr1:195833600-195836600	Active TSS	K562	blood

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