Variant report

Variant	rs11807346
Chromosome Location	chr1:79418190-79418191
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs11799779	1.00[AMR][1000 genomes]
rs11799869	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11800738	1.00[AMR][1000 genomes]
rs11801058	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11801068	1.00[AMR][1000 genomes]
rs11802443	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11804647	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11805804	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11806813	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11807326	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11807833	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11808232	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11810042	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11811821	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11812069	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1489388	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17102521	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17102524	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17102548	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17102553	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17102559	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17102561	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17102563	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17102566	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17102583	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17102585	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1844318	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1906828	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1906829	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1906830	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57126585	1.00[AMR][1000 genomes]
rs57178777	1.00[AMR][1000 genomes]
rs58061451	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58435051	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60091606	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60340422	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60640721	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61126418	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61665004	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61712345	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7339884	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv871835	chr1:78528803-79501129	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv491784	chr1:79146141-79853482	Enhancers Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv526221	chr1:79197624-79487080	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv817535	chr1:79203834-79473089	Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Weak transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv999624	chr1:79230028-79448222	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv535013	chr1:79230028-79448222	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv546619	chr1:79233493-79614989	ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	esv2830430	chr1:79310760-79555593	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv1010441	chr1:79320299-79555315	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	nsv1001894	chr1:79351364-79542576	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	nsv535014	chr1:79351364-79542576	Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
12	nsv871089	chr1:79353655-79471959	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	nsv462106	chr1:79358827-79420491	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
14	nsv546620	chr1:79358827-79420491	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
15	nsv462117	chr1:79358827-79458347	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
16	nsv546621	chr1:79358827-79458347	ZNF genes & repeats Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
17	nsv462128	chr1:79374579-79420491	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
18	nsv546622	chr1:79374579-79420491	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
19	nsv546623	chr1:79374579-79509109	Bivalent/Poised TSS Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
20	nsv546624	chr1:79382009-79420491	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
21	nsv871564	chr1:79382009-79471959	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
22	nsv546626	chr1:79387012-79420491	Weak transcription Strong transcription Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
23	nsv546627	chr1:79403335-79454383	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
24	nsv546628	chr1:79403335-79458347	Strong transcription Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
25	nsv871525	chr1:79403335-79518810	ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
26	nsv871613	chr1:79407980-79471959	Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases
27	nsv871276	chr1:79407980-79520554	Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
28	nsv470720	chr1:79411764-79491206	Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:79412200-79418400	Weak transcription	HUVEC	blood vessel
2	chr1:79413000-79418400	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr1:79414800-79419400	Enhancers	Hela-S3	cervix
4	chr1:79417000-79431400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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